| - GRCh37:
- Chr2:145157369-145157370
- GRCh38:
- Chr2:144399802-144399803
| ZEB2 | K438fs, K462fs | Neurodevelopmental disorder | Likely pathogenic
(May 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:98609847
- GRCh38:
- Chr7:99012224
| TRRAP | A3788T, A3817T, A3831T | Neurodevelopmental disorder | Uncertain significance
(May 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:23411986-23411987
- GRCh38:
- ChrX:23393869-23393870
| PTCHD1 | | Neurodevelopmental disorder | Uncertain significance
(Apr 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:90003770
- GRCh38:
- Chr12:89609993
| ATP2B1 | G609S, G645S, G711S, G715S, G730S, G749S, G783S, G796S | Neurodevelopmental disorder | Uncertain significance
(Apr 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99478232-99478233
- GRCh38:
- Chr15:98935003-98935004
| IGF1R | E1045fs, E1046fs | Neurodevelopmental disorder | Likely pathogenic
(Apr 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:123184085
- GRCh38:
- ChrX:124050235
| STAG2 | W315R | Neurodevelopmental disorder | Likely pathogenic
(Apr 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:5568800-5568802
- GRCh38:
- Chr7:5529169-5529171
| ACTB | K118del | Neurodevelopmental disorder | Uncertain significance
(Apr 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118376054
- GRCh38:
- Chr11:118505339
| KMT2A | P3147fs, P3150fs, P3180fs | Neurodevelopmental disorder | Likely pathogenic
(Apr 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:197740546
- GRCh38:
- Chr2:196875822
| PGAP1 | | Neurodevelopmental disorder | Uncertain significance
(Mar 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41782203-41782204
- GRCh38:
- ChrX:41922950-41922951
| CASK | E13fs | Neurodevelopmental disorder | Pathogenic
(Mar 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35737920
- GRCh38:
- Chr9:35737923
| GBA2 | H777P | Neurodevelopmental disorder | Likely pathogenic
(Mar 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:151866266
- GRCh38:
- Chr7:152169181
| KMT2C | | Neurodevelopmental disorder | Uncertain significance
(Mar 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:77090971
- GRCh38:
- Chr11:77379926
| PAK1 | V87F | Neurodevelopmental disorder | Uncertain significance
(Mar 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123978404
- GRCh38:
- Chr4:123057249
| AFG2A | F724S, F725S | Neurodevelopmental disorder | Likely pathogenic
(Mar 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:58617073
- GRCh38:
- Chr16:58583169
| CNOT1 | R274C | Neurodevelopmental disorder | Uncertain significance
(Mar 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:140281050
- GRCh38:
- Chr4:139359896
| NAA15 | | Neurodevelopmental disorder | Likely pathogenic
(Mar 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155349875
- GRCh38:
- Chr1:155380084
| ASH1L | Q2046*, Q2051* | Neurodevelopmental disorder | Likely pathogenic
(Mar 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65548089
- GRCh38:
- Chr7:66083102
| ASL | M125T | Neurodevelopmental disorder | Likely pathogenic
(Mar 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:112341764
- GRCh38:
- Chr10:110582006
| SMC3 | A211S | Neurodevelopmental disorder | Uncertain significance
(Feb 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:31004188
- GRCh38:
- Chr16:30992867
| STX1B | L274P | Neurodevelopmental disorder | Uncertain significance
(Feb 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:52093402
- GRCh38:
- Chr12:51699618
| SCN8A | S252* | Neurodevelopmental disorder | Pathogenic
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118391264-118392369
- GRCh38:
- Chr11:118520549-118521654
| KMT2A, TTC36-AS1 | | Neurodevelopmental disorder | Likely pathogenic
(Jan 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:44920567
- GRCh38:
- ChrX:45061322
| KDM6A | | Neurodevelopmental disorder | Likely pathogenic
(Jan 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65486633
- GRCh38:
- Chr11:65719162
| KAT5, RNASEH2C | S456T, S489T, S508T, S541T | Neurodevelopmental disorder | Uncertain significance
(Jan 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:90003803
- GRCh38:
- Chr12:89610026
| ATP2B1 | V598I, V634I, V700I, V704I, V719I, V738I, V772I, V785I | Neurodevelopmental disorder | Uncertain significance
(Jan 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:131761789
- GRCh38:
- Chr10:129963525
| EBF3 | | Neurodevelopmental disorder | Uncertain significance
(Jan 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:13828725
- GRCh38:
- Chr12:13675791
| GRIN2B | P360L | Neurodevelopmental disorder | Likely pathogenic
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:412251
- GRCh38:
- Chr10:366311
| DIP2C | Y745fs | Neurodevelopmental disorder | Uncertain significance
(Jan 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:11061986
- GRCh38:
- Chr3:11020300
| SLC6A1 | S187G, S67G, S9G | Neurodevelopmental disorder | Uncertain significance
(Jan 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:85696217
- GRCh38:
- Chr4:84775064
| WDFY3 | | Neurodevelopmental disorder | Uncertain significance
(Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70501298
- GRCh38:
- Chr16:70467395
| FCSK | R169Q | Neurodevelopmental disorder | Uncertain significance
(Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70513492
- GRCh38:
- Chr16:70479589
| FCSK | N1055S | Neurodevelopmental disorder | Uncertain significance
(Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:2456696
- GRCh38:
- Chr19:2456698
| LMNB2, LOC130063065 | S79L | Neurodevelopmental disorder | Uncertain significance
(Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:2456813
- GRCh38:
- Chr19:2456815
| LMNB2 | R40L | Neurodevelopmental disorder | Uncertain significance
(Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:151396016
- GRCh38:
- Chr1:151423540
| POGZ | H417R, H450R, H459R, H503R, H512R, H519R | Neurodevelopmental disorder | Likely pathogenic
(Jan 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:96422611-96422612
- GRCh38:
- Chr9:93660329-93660330
| PHF2 | T493fs | Neurodevelopmental disorder | Uncertain significance
(Jan 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81072445-81072446
- GRCh38:
- Chr10:79312688-79312689
| ZMIZ1 | D1051fs | Neurodevelopmental disorder | Uncertain significance
(Jan 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:128948763
- GRCh38:
- ChrX:129814787
| ZDHHC9 | D166H | Neurodevelopmental disorder | Uncertain significance
(Jan 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118360551
- GRCh38:
- Chr11:118489836
| KMT2A | E1508D, E1541D | Neurodevelopmental disorder | Uncertain significance
(Jan 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:152845578
- GRCh38:
- ChrX:153580120
| ATP2B3 | T1162M | Neurodevelopmental disorder | Uncertain significance
(Jan 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13319569
- GRCh38:
- Chr19:13208755
| CACNA1A, LOC130063717 | | Neurodevelopmental disorder | Uncertain significance
(Jan 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:89995161
- GRCh38:
- Chr12:89601384
| ATP2B1 | S1024*, S1037*, S850*, S886*, S952*, S956*, S971*, S990* | Neurodevelopmental disorder | Likely pathogenic
(Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20577155
- GRCh38:
- Chr13:20003015
| ZMYM2 | L251*, L273*, L338* | Neurodevelopmental disorder | Pathogenic
(Dec 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:79947390
- GRCh38:
- ChrX:80691891
| BRWD3 | W1138* | Neurodevelopmental disorder | Likely pathogenic
(Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:114058216
- GRCh38:
- Chr3:114339369
| ZBTB20 | L548R, L621R | Neurodevelopmental disorder | Likely pathogenic
(Dec 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:14313480
- GRCh38:
- Chr9:14313481
| NFIB | | Neurodevelopmental disorder | Uncertain significance
(Dec 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:65944238-65944241
- GRCh38:
- Chr17:67948122-67948125
| BPTF | D2566fs, D2583fs | Neurodevelopmental disorder | Likely pathogenic
(Nov 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:25462017
- GRCh38:
- Chr2:25239148
| DNMT3A | N574S, N608S, N645S, N797S | Neurodevelopmental disorder | Uncertain significance
(Nov 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:21862090-21862091
- GRCh38:
- Chr14:21393931-21393932
| CHD8 | F1676fs, F1955fs | Neurodevelopmental disorder | Pathogenic
(Nov 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:17700776-17700777
- GRCh38:
- Chr17:17797462-17797463
| RAI1 | C1516fs | Neurodevelopmental disorder | Likely pathogenic
(Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:54856193
- GRCh38:
- Chr2:54629056
| SPTBN1 | W628*, W641* | Neurodevelopmental disorder | Likely pathogenic
(Nov 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:230632345
- GRCh38:
- Chr2:229767629
| TRIP12 | Y1698*, Y1968*, Y1969*, Y1996*, Y2001*, Y2009*, Y2016*, Y2017*, Y2038*, Y2039*, Y2043*, Y2044* | Neurodevelopmental disorder | Likely pathogenic
(Nov 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:89347481
- GRCh38:
- Chr16:89281073
| ANKRD11 | M1825fs | Neurodevelopmental disorder | Pathogenic
(Nov 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:28878766-28878767
- GRCh38:
- Chr10:28589837-28589838
| WAC | E117fs, E162fs | Neurodevelopmental disorder | Pathogenic
(Nov 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99460023-99460034
- GRCh38:
- Chr15:98916794-98916805
| IGF1R | | Neurodevelopmental disorder | Likely pathogenic
(Nov 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:114058233
- GRCh38:
- Chr3:114339386
| ZBTB20 | F542L, F615L | Neurodevelopmental disorder | Uncertain significance
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:90002047
- GRCh38:
- Chr16:89935639
| TUBB3 | H324Q, H396Q | Neurodevelopmental disorder | Uncertain significance
(Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13192671
- GRCh38:
- Chr19:13081857
| NFIX | | Neurodevelopmental disorder | Likely pathogenic
(Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155448800-155448801
- GRCh38:
- Chr1:155479009-155479010
| ASH1L | F1287fs | Neurodevelopmental disorder | Pathogenic
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:89346661-89346662
- GRCh38:
- Chr16:89280253-89280254
| ANKRD11 | P2097fs | Neurodevelopmental disorder | Likely pathogenic
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27876195
- GRCh38:
- Chr1:27549684
| AHDC1 | S811* | Neurodevelopmental disorder | Pathogenic
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:14263422
- GRCh38:
- Chr19:14152610
| ADGRL1, ADGRL1-AS1 | R1143*, R1148* | Neurodevelopmental disorder | Uncertain significance
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:140291445
- GRCh38:
- Chr4:139370291
| NAA15 | N614fs | Neurodevelopmental disorder | Likely pathogenic
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:62070997-62070998
- GRCh38:
- Chr20:63439644-63439645
| KCNQ2 | A294fs | Neurodevelopmental disorder | Likely pathogenic
(Nov 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131380027-131380030
- GRCh38:
- Chr9:128617748-128617751
| SPTAN1 | P1798fs, P1803fs, P1818fs, P1823fs, P1835fs | Neurodevelopmental disorder | Likely pathogenic
(Nov 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:75607087
- GRCh38:
- Chr10:73847329
| CAMK2G | D135N, D157N, D17N, D231N, D239N | Neurodevelopmental disorder | Uncertain significance
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:25672408
- GRCh38:
- Chr3:25630917
| TOP2B | E425G, E430G | Neurodevelopmental disorder | Uncertain significance
(Sep 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153049238
- GRCh38:
- ChrX:153783783
| SRPK3 | K268T, K269T | Neurodevelopmental disorder | Uncertain significance
(Sep 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:25966355
- GRCh38:
- Chr2:25743486
| ASXL2 | P691S, P893S, P951S | Neurodevelopmental disorder | Uncertain significance
(Sep 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48508134
- GRCh38:
- Chr3:48466735
| ATRIP, ATRIP-TREX1, TREX1 | Q18fs, Q28fs | Neurodevelopmental disorder | Likely pathogenic
(Aug 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:149602609
- GRCh38:
- Chr5:150223046
| CAMK2A | D459G, D470G | Neurodevelopmental disorder | Uncertain significance
(Aug 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:37063891
- GRCh38:
- Chr5:37063789
| NIPBL | | Neurodevelopmental disorder | Likely pathogenic
(Aug 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:52159593
- GRCh38:
- Chr12:51765809
| SCN8A | Q895E | Neurodevelopmental disorder | Likely pathogenic
(Aug 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:5567427-5567428
- GRCh38:
- Chr7:5527796-5527797
| ACTB | Q360fs | Neurodevelopmental disorder | Likely pathogenic
(Aug 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:12734895
- GRCh38:
- ChrX:12716776
| FRMPD4 | L733V, L765V, L770V, L773V, L775V, L810V | Neurodevelopmental disorder | Uncertain significance
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42777384
- GRCh38:
- Chr19:42273232
| CIC | K483N | Neurodevelopmental disorder | Uncertain significance
(Jun 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:28879654-28879655
- GRCh38:
- Chr10:28590725-28590726
| WAC | R124fs, R169fs | Neurodevelopmental disorder | Likely pathogenic
(Jun 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:7527938
- GRCh38:
- Chr1:7467878
| CAMTA1 | R133G, R163G | Neurodevelopmental disorder | Likely pathogenic
(May 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr20:485774-485776
- GRCh38:
- Chr20:505130-505132
| CSNK2A1 | V67del | Neurodevelopmental disorder | Uncertain significance
(May 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48050439
- GRCh38:
- Chr2:47823300
| FBXO11 | Y403H, Y487H | Neurodevelopmental disorder | Uncertain significance
(May 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:50480651
- GRCh38:
- Chr12:50086868
| SMARCD1 | R174H | Neurodevelopmental disorder | Uncertain significance
(May 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr21:38850565
- GRCh38:
- Chr21:37478263
| DYRK1A | S59C, S88C, S97C | Neurodevelopmental disorder | Uncertain significance
(May 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:40041594
- GRCh38:
- Chr7:40001995
| CDK13 | D773H | Neurodevelopmental disorder | Likely pathogenic
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:111541792
- GRCh38:
- Chr7:111901736
| DOCK4 | V420M | Neurodevelopmental disorder | Uncertain significance
(Oct 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:111585797
- GRCh38:
- Chr7:111945742
| DOCK4 | P253L | Neurodevelopmental disorder | Uncertain significance
(Oct 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:111448918
- GRCh38:
- Chr7:111808862
| DOCK4, DOCK4-AS1 | V1042A | Neurodevelopmental disorder | Uncertain significance
(Oct 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:111405257
- GRCh38:
- Chr7:111765201
| DOCK4 | D1304fs, D1313fs | Neurodevelopmental disorder | Likely pathogenic
(Oct 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:111474709
- GRCh38:
- Chr7:111834653
| DOCK4 | R924* | Neurodevelopmental disorder | Likely pathogenic
(Oct 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:111580250
- GRCh38:
- Chr7:111940195
| DOCK4 | R298* | Neurodevelopmental disorder | Likely pathogenic
(Oct 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:111368345
- GRCh38:
- Chr7:111728289
| DOCK4 | K1962N, K1971N | Neurodevelopmental disorder | Uncertain significance
(Oct 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:111400359
- GRCh38:
- Chr7:111760303
| DOCK4 | R1338Q, R1347Q | Neurodevelopmental disorder | Uncertain significance
(Oct 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:111430628
- GRCh38:
- Chr7:111790572
| DOCK4 | I1067T | Neurodevelopmental disorder | Likely pathogenic
(Oct 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:111448912
- GRCh38:
- Chr7:111808856
| DOCK4, DOCK4-AS1 | M1044T | Neurodevelopmental disorder | Likely pathogenic
(Oct 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:111451991
- GRCh38:
- Chr7:111811935
| DOCK4, DOCK4-AS1 | T982I | Neurodevelopmental disorder | Likely pathogenic
(Oct 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1475838
- GRCh38:
- Chr11:1454608
| BRSK2 | | Neurodevelopmental disorder | Likely pathogenic
(Aug 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35737333
- GRCh38:
- Chr9:35737336
| GBA2 | R873C | Neurodevelopmental disorder, Hereditary spastic paraplegia 46 | Conflicting interpretations of pathogenicity
(Mar 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh38:
- Chr8:449893-23854904
| BIN3, HR, LOC124049163, LOC129389958, LOC129389959, LOC129999865, LOC129999960, LOC129999963, LOC129999961, LOC129999869, LOC129999870, LOC129999871, LOC129999872, LOC129999873, LOC129999874, LOC129999964, LOC129999965, LOC129999966, LOC129999967, LOC129999968, LOC129999969, LOC129389960, LOC129389961, LOC129999778, LOC129999779, LOC129999780, LOC129999781, LOC124153116, LOC124153117, LOC124049165, LOC129389962, LOC129389963, LOC129389964, LOC129389965, LOC129389966, LOC129999777, LOC129999962, LOC129999866, LOC129999867, LOC129999868, INTS10, KBTBD11, KBTBD11-AS1, KBTBD11-OT1, LGI3, LINC00208, LINC00529, LOC124049164, LOC124049166, LOC124110275, LOC124110276, LOC124110277, LOC124153111, LOC124153112, LOC124153113, BIN3-IT1, BLK, BMP1, C8orf48, C8orf58, C8orf74, CCAR2, CSGALNACT1, LOC124153114, LOC124153115, HRURF, AGPAT5, ANGPT2, ARHGEF10, ASAH1, ASAH1-AS1, ATP6V1B2, CHMP7, CLDN23, CLN8, CLN8-AS1, CNOT7, CRE3, CSMD1, CTSB, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109B, DEFB130A, DEFB130B, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DLC1, DLGAP2, DLGAP2-AS1, DMTN, DOK2, EGR3, ENTPD4, ENTPD4-DT, ERI1, ERICH1, FAM167A, FAM167A-AS1, FAM66A, FAM66B, FAM66D, FAM66E, FAM85A, FAM85B, FAM86B1, FAM86B2, FAM86B2-DT, FAM90A10, FAM90A11, FAM90A12, FAM90A13, FAM90A14, FAM90A15, FAM90A16, FAM90A17, FAM90A18, FAM90A19, FAM90A20, FAM90A22, FAM90A23, FAM90A24, FAM90A3, FAM90A5, FAM90A7, FAM90A8, FAM90A9, FBXO25, FDFT1, FGF17, FGF20, FGL1, FHIP2B, GATA4, GFRA2, GS1-24F4.2, LINC00681, LINC00965, LINC02153, LINC02905, LINC02949, LINC02950, LINC03019, LINC03021, LINC03022, LINC03023, LINC03093, LOC100128993, LOC101928095, LOC101929128, LOC101929237, LOC101929258, LOC101929269, LOC102723313, LOC102725080, LOC105377777, LOC105377785, LOC105377796, LOC105379224, LOC105379230, LOC105379292, LOC105379301, LOC105379311, LOC105379314, LOC105379327, LOC106783493, LOC107522030, LOC107986876, LOC110120689, LOC110120768, LOC110120769, LOC110120770, LOC110121280, LOC110121281, LOC111255642, LOC111255645, LOC111365225, LOC111818956, LOC113788244, LOC113788245, LOC113788246, LOC113788268, LOC113788269, LOC113788270, LOC113788271, LOC113788286, LOC113788289, LOC113788294, LOC114827823, LOC114827837, LOC116186920, LOC116186921, LOC116186922, LOC116186923, LOC116186924, LOC121268919, LOC121268920, LOC121268921, LOC121294073, LOC121294074, LOC121294075, LOC121294076, LOC121740708, LOC121740709, LOC121740710, LOC121740711, LOC123987604, LOC123987605, LOC123987606, LOC123987607, LOC123987608, LOC123987609, LOC123987610, LOC123987611, LOC123987612, LOC123987613, LOC124049158, LOC124049159, LOC124049160, LOC124049161, LOC124049162, LOC124153118, LOC124153119, LOC124153120, LOC124153121, LOC124153122, LOC124153123, LOC124153124, LOC126088091, LOC126088092, LOC126264116, LOC126860266, LOC126860267, LOC126860268, LOC126860269, LOC126860270, LOC126860271, LOC126860272, LOC126860273, LOC126860274, LOC126860275, LOC126860276, LOC126860277, LOC126860278, LOC126860279, LOC126860280, LOC126860281, LOC126860282, LOC126860283, LOC126860284, LOC126860285, LOC126860286, LOC126860287, LOC126860288, LOC126860289, LOC126860290, LOC126860291, LOC126860292, LOC126860293, LOC126860294, LOC126860295, LOC126860296, LOC126860297, LOC126860298, LOC126860299, LOC126860300, LOC126860301, LOC126860302, LOC126860303, LOC126860304, LOC126860305, LOC126860306, LOC126860307, LOC126860308, LOC126860309, LOC126860310, LOC126860311, LOC126860312, LOC126860313, LOC126860314, LOC126860315, LOC126860316, LOC126860317, LOC126860318, LOC126860319, LOC126860320, LOC126860321, LOC126860322, LOC126860323, LOC126860324, LOC126860325, LOC126860326, LOC126860327, LOC128462397, LOC128772327, LOC128772328, LOC128966594, LOC129389951, LOC129389952, LOC129389953, LOC129389954, LOC129389955, LOC129389956, LOC129389957, LOC129999782, LOC129999783, LOC129999784, LOC129999785, LOC129999786, LOC129999787, LOC129999788, LOC129999789, LOC129999790, LOC129999791, LOC129999792, LOC129999793, LOC129999794, LOC129999795, LOC129999796, LOC129999797, LOC129999798, LOC129999799, LOC129999800, LOC129999801, LOC129999802, LOC129999803, LOC129999804, LOC129999805, LOC129999806, LOC129999807, LOC129999808, LOC129999809, LOC129999810, LOC129999811, LOC129999812, LOC129999813, LOC129999814, LOC129999815, LOC129999816, LOC129999817, LOC129999818, LOC129999819, LOC129999820, LOC129999821, LOC129999822, LOC129999823, LOC129999824, LOC129999825, LOC129999826, LOC129999827, LOC129999828, LOC129999829, LOC129999830, LOC129999831, LOC129999832, LOC129999833, LOC129999834, LOC129999835, LOC129999836, LOC129999837, LOC129999838, LOC129999839, LOC129999840, LOC129999841, LOC129999842, LOC129999843, LOC129999844, LOC129999845, LOC129999846, LOC129999847, LOC129999848, LOC129999849, LOC129999850, LOC129999851, LOC129999852, LOC129999853, LOC129999854, LOC129999855, LOC129999856, LOC129999857, LOC129999858, LOC129999859, LOC129999860, LOC129999861, LOC129999862, LOC129999863, LOC129999864, LOC129999875, LOC129999876, LOC129999877, LOC129999878, LOC129999879, LOC129999880, LOC129999881, LOC129999882, LOC129999883, LOC129999884, LOC129999885, LOC129999886, LOC129999887, LOC129999888, LOC129999889, LOC129999890, LOC129999891, LOC129999892, LOC129999893, LOC129999894, LOC129999895, LOC129999896, LOC129999897, LOC129999898, LOC129999899, LOC129999900, LOC129999901, LOC129999902, LOC129999903, LOC129999904, LOC129999905, LOC129999906, LOC129999907, LOC129999908, LOC129999909, LOC129999910, LOC129999911, LOC129999912, LOC129999913, LOC129999914, LOC129999915, LOC129999916, LOC129999917, LOC129999918, LOC129999919, LOC129999920, LOC129999921, LOC129999922, LOC129999923, LOC129999924, LOC129999925, LOC129999926, LOC129999927, LOC129999928, LOC129999929, LOC129999930, LOC129999931, LOC129999932, LOC129999933, LOC129999934, LOC129999935, LOC129999936, LOC129999937, LOC129999938, LOC129999939, LOC129999940, LOC129999941, LOC129999942, LOC129999943, LOC129999944, LOC129999945, LOC129999946, LOC129999947, LOC129999948, LOC129999949, LOC129999950, LOC129999951, LOC129999952, LOC129999953, LOC129999954, LOC129999955, LOC129999956, LOC129999957, LOC129999958, LOC129999959, LOC129999970, LOC129999971, LOC129999972, LOC129999973, LOC129999974, LOC129999975, LOC129999976, LOC129999977, LOC129999978, LOC129999979, LOC129999980, LOC129999981, LOC129999982, LOC129999983, LOC129999984, LOC129999985, LOC129999986, LOC129999987, LOC129999988, LOC129999989, LOC129999990, LOC129999991, LOC129999992, LOC129999993, LOC129999994, LOC129999995, LOC129999996, LOC129999997, LOC129999998, LOC129999999, LOC130000000, LOC130000001, LOC130000002, LOC130000003, LOC130000004, LOC130000005, LOC130000006, LOC130000007, LOC130000008, LOC130000009, LOC130000010, LOC130000011, LOC130000012, LOC130000013, LOC130000014, LOC130000015, LOC130000016, LOC130000017, LOC130000018, LOC130000019, LOC130000020, LOC130000021, LOC130000022, LOC130000023, LOC130000024, LOC130000025, LOC130000026, LOC130000027, LOC130000028, LOC130000029, LOC130000030, LOC130000031, LOC130000032, LOC130000033, LOC130000034, LOC130000035, LOC130000036, LOC130000037, LOC130000038, LOC130000039, LOC130000040, LOC130000041, LOC130000042, LOC132089561, LOC132089562, LOC132089563, LOC132089564, LOC132089565, LOC132089566, LOC132089567, LOC132089568, LOC132089569, LOC132089570, LOC132089571, LOC132089572, LOC132089573, LOC132089574, LOC132089575, LOC132089576, LOC132089577, LOC132089578, LOC132089579, LOC132089580, LOC132089581, LOC132089582, LOC132089583, LOC132089584, LOC132089585, LOC132089586, LOC132089587, LOC132089588, LOC132089589, LOC132089590, LOC132089591, LOC132089592, LOC132089593, LOC132089594, LOC132089595, LOC132089596, LOC132089598, LOC132089602, LOC132089603, LOC132089604, LOC132090783, LOC132090784, LOC132090785, LOC132205968, LOC132205969, LOC157273, LOC254896, LOC286083, LOC401442, LOC729732, LONRF1, LOXL2, LOXL2-AS1, LPL, LZTS1, LZTS1-AS1, MCPH1, MCPH1-AS1, MCPH1-DT, MFHAS1, MICU3, MIR124-1, MIR124-1HG, MIR1322, MIR320A, MIR3674, MIR383, MIR3926-1, MIR3926-2, MIR4286, MIR4659A, MIR4659B, MIR4660, MIR548I3, MIR548V, MIR5692A2, MIR596, MIR597, MIR598, MIR7160, MIR8055, MSR1, MSRA, MTMR7, MTMR9, MTUS1, MTUS1-DT, MYOM2, NAT1, NAT2, NEIL2, NKX2-6, NKX3-1, NPM2, NUDT18, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PINX1, PINX1-DT, PIWIL2, PIWIL2-DT, POLR3D, PPP1R3B, PPP1R3B-DT, PPP3CC, PRAG1, PRR23D1, PRR23D2, PRSS51, PRSS55, PSD3, R3HCC1, REEP4, RHOBTB2, RP1L1, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC25A37, SLC35G5, SLC39A14, SLC7A2, SNORA99, SNORD3F, SNORD3I, SORBS3, SOX7, SPAG11A, SPAG11B, STC1, TDH-AS1, TDRP, TNFRSF10A, TNFRSF10A-DT, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNKS, TRMT9B, TUSC3, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, VPS37A, XKR5, XKR6, XPO7, ZDHHC2, ZNF705B, ZNF705D, ZNF705G | | Neurodevelopmental disorder | Pathogenic
(Aug 24, 2023) | criteria provided, single submitter |
| - GRCh38:
- Chr20:62632017-63794804
| ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, EEF1A2, FLJ16779, FNDC11, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, KCNQ2-AS1, LIME1, LINC00029, LINC00659, LINC01056, LINC01749, LOC100130587, LOC112694727, LOC114004357, LOC114803474, LOC121627914, LOC121853019, LOC121853020, LOC125387317, LOC125387318, LOC125387319, LOC125387320, LOC126863083, LOC126863084, LOC126863085, LOC126863086, LOC126863087, LOC128772425, LOC128772426, LOC129391208, LOC129391209, LOC129391210, LOC129391211, LOC129391212, LOC130066320, LOC130066321, LOC130066322, LOC130066323, LOC130066324, LOC130066325, LOC130066326, LOC130066327, LOC130066328, LOC130066329, LOC130066330, LOC130066331, LOC130066332, LOC130066333, LOC130066334, LOC130066335, LOC130066336, LOC130066337, LOC130066338, LOC130066339, LOC130066340, LOC130066341, LOC130066342, LOC130066343, LOC130066344, LOC130066345, LOC130066346, LOC130066347, LOC130066348, LOC130066349, LOC130066350, LOC130066351, LOC130066352, LOC130066353, LOC130066354, LOC130066355, LOC130066356, LOC130066357, LOC130066358, LOC130066359, LOC130066360, LOC130066361, LOC130066362, LOC130066363, LOC130066364, LOC130066365, LOC130066366, LOC130066367, LOC130066368, LOC130066369, LOC130066370, LOC130066371, LOC130066372, LOC130066373, LOC130066374, LOC130066375, LOC130066376, LOC130066377, LOC130066378, LOC130066379, LOC130066380, LOC130066381, LOC130066382, LOC130066383, LOC130066384, LOC130066385, LOC130066386, LOC130066387, LOC130066388, LOC130066389, LOC130066390, LOC130066391, LOC130066392, LOC130066393, LOC130066394, LOC130066395, LOC130066396, LOC130066397, LOC130066398, LOC132090594, LOC132090595, LOC132090596, LOC132090597, LOC132090598, LOC132090599, LOC132090600, LOC132090601, LOC132090602, LOC132090603, LOC132090911, LOC132090912, LOC132090913, LOC132090914, LOC132090915, MHENCR, MIR124-3, MIR3196, MIR4326, MRGBP, NKAIN4, NTSR1, OGFR, OGFR-AS1, PPDPF, PTK6, RTEL1, RTEL1-TNFRSF6B, SLC17A9, SLC2A4RG, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SNORA117, SRMS, STMN3, TCFL5, TNFRSF6B, YTHDF1, ZBTB46, ZBTB46-AS2, ZGPAT | | Neurodevelopmental disorder | Pathogenic
(Aug 24, 2023) | criteria provided, single submitter |
| - GRCh38:
- Chr8:115586904-135607135
| LINC03024, LOC126860503, LOC130001032, LOC130001136, LOC130001137, LOC130001138, LOC130001139, LOC130001140, LOC130001141, LOC130001142, LOC130001143, LOC130001144, LOC130001033, LOC130001037, LOC130001038, LOC126860509, LOC126860510, LOC126860511, LOC126860505, LOC130001039, LOC130001040, LOC130001034, LOC130001035, LOC130001036, LOC101927513, LOC101927543, LOC106867047, LOC101927588, LOC101927657, LOC101927798, LOC101927822, LOC101927845, LOC105375713, LOC105375742, LOC105375743, LOC105375747, LOC105375750, LOC105375751, LOC105375759, LOC126860504, LOC126860506, LOC126860507, LOC126860508, AARD, ADCY8, ANXA13, ASAP1, ASAP1-IT1, ASAP1-IT2, ATAD2, C8orf76, CASC11, CASC19, CASC21, CASC8, CCAT1, CCAT2, CCDC26, CCN3, CCN4, COL14A1, COLEC10, CYRIB, DEPTOR, DERL1, DNAAF11, DSCC1, EFR3A, EIF3H, ENPP2, EXT1, FAM83A, FAM83A-AS1, FAM91A1, FBXO32, FER1L6, FER1L6-AS1, FER1L6-AS2, GSDMC, HAS2, HAS2-AS1, HHLA1, HPYR1, KCNQ3, KHDRBS3, KLHL38, LINC00536, LINC00824, LINC00861, LINC00964, LINC00976, LINC00977, LINC01151, LINC01591, LINC02855, LINC02912, LINC02964, LOC108228207, LOC108254690, LOC108281119, LOC108353813, LOC108491824, LOC110121123, LOC110121191, LOC110121217, LOC111365157, LOC111365183, LOC111556135, LOC111589211, LOC113788247, LOC113788248, LOC113788249, LOC113788251, LOC113788252, LOC113788253, LOC113788254, LOC113788255, LOC113788256, LOC113788257, LOC113788258, LOC114827840, LOC121331310, LOC121331311, LOC121331312, LOC121740726, LOC121740727, LOC121740728, LOC121740729, LOC121740730, LOC121740731, LOC121740732, LOC121740733, LOC124174319, LOC124188206, LOC124188207, LOC124188208, LOC124188209, LOC124188210, LOC124188211, LOC124188212, LOC124188213, LOC124188215, LOC124188217, LOC124188218, LOC124188219, LOC124188220, LOC124188221, LOC124188222, LOC124188223, LOC124188224, LOC124188225, LOC124188226, LOC124188227, LOC124188228, LOC124188229, LOC124188230, LOC124188231, LOC124188233, LOC124188234, LOC124188235, LOC124188236, LOC124188237, LOC126860476, LOC126860477, LOC126860478, LOC126860479, LOC126860480, LOC126860481, LOC126860482, LOC126860483, LOC126860484, LOC126860485, LOC126860486, LOC126860487, LOC126860488, LOC126860489, LOC126860490, LOC126860491, LOC126860492, LOC126860493, LOC126860494, LOC126860495, LOC126860496, LOC126860497, LOC126860498, LOC126860499, LOC126860500, LOC126860501, LOC126860502, LOC126860512, LOC126860513, LOC126860514, LOC126860515, LOC126860516, LOC126860517, LOC126860518, LOC126860519, LOC126860520, LOC126860521, LOC126860522, LOC126860523, LOC126860524, LOC126860525, LOC126860526, LOC126860527, LOC126860528, LOC126860529, LOC126860530, LOC126860531, LOC126860532, LOC126860533, LOC126860534, LOC127460344, LOC128598887, LOC128598888, LOC128598889, LOC128598890, LOC128598891, LOC129390042, LOC129390043, LOC129390044, LOC129390045, LOC129390046, LOC129390047, LOC129390048, LOC129390049, LOC129390050, LOC129390051, LOC129390052, LOC129390053, LOC129390054, LOC129390055, LOC129929031, LOC130000983, LOC130000984, LOC130000985, LOC130000986, LOC130000987, LOC130000988, LOC130000989, LOC130000990, LOC130000991, LOC130000992, LOC130000993, LOC130000994, LOC130000995, LOC130000996, LOC130000997, LOC130000998, LOC130000999, LOC130001000, LOC130001001, LOC130001002, LOC130001003, LOC130001004, LOC130001005, LOC130001006, LOC130001007, LOC130001008, LOC130001009, LOC130001010, LOC130001011, LOC130001012, LOC130001013, LOC130001014, LOC130001015, LOC130001016, LOC130001017, LOC130001018, LOC130001019, LOC130001020, LOC130001021, LOC130001022, LOC130001023, LOC130001024, LOC130001025, LOC130001026, LOC130001027, LOC130001028, LOC130001029, LOC130001030, LOC130001031, LOC130001041, LOC130001042, LOC130001043, LOC130001044, LOC130001045, LOC130001046, LOC130001047, LOC130001048, LOC130001049, LOC130001050, LOC130001051, LOC130001052, LOC130001053, LOC130001054, LOC130001055, LOC130001056, LOC130001057, LOC130001058, LOC130001059, LOC130001060, LOC130001061, LOC130001062, LOC130001063, LOC130001064, LOC130001065, LOC130001066, LOC130001067, LOC130001068, LOC130001069, LOC130001070, LOC130001071, LOC130001072, LOC130001073, LOC130001074, LOC130001075, LOC130001076, LOC130001077, LOC130001078, LOC130001079, LOC130001080, LOC130001081, LOC130001082, LOC130001083, LOC130001084, LOC130001085, LOC130001086, LOC130001087, LOC130001088, LOC130001089, LOC130001090, LOC130001091, LOC130001092, LOC130001093, LOC130001094, LOC130001095, LOC130001096, LOC130001097, LOC130001098, LOC130001099, LOC130001100, LOC130001101, LOC130001102, LOC130001103, LOC130001104, LOC130001105, LOC130001106, LOC130001107, LOC130001108, LOC130001109, LOC130001110, LOC130001111, LOC130001112, LOC130001113, LOC130001114, LOC130001115, LOC130001116, LOC130001117, LOC130001118, LOC130001119, LOC130001120, LOC130001121, LOC130001122, LOC130001123, LOC130001124, LOC130001125, LOC130001126, LOC130001127, LOC130001128, LOC130001129, LOC130001130, LOC130001131, LOC130001132, LOC130001133, LOC130001134, LOC130001135, LOC130001145, LOC130001146, LOC130001147, LOC130001148, LOC130001149, LOC130001150, LOC130001151, LOC130001152, LOC130001153, LOC130001154, LOC130001155, LOC130001156, LOC130001157, LOC130001158, LOC130001159, LOC130001160, LOC130001161, LOC130001162, LOC130001163, LOC130001164, LOC130001165, LOC130001166, LOC130001167, LOC130001168, LOC130001169, LOC130001170, LOC130001171, LOC130001172, LOC130001173, LOC130001174, LOC130001175, LOC130001176, LOC130001177, LOC130001178, LOC130001179, LOC130001180, LOC130001181, LOC130001182, LOC130001183, LOC130001184, LOC130001185, LOC130001186, LOC130001187, LOC130001188, LOC130001189, LOC130001190, LOC130001191, LOC130001192, LOC130001193, LOC130001194, LOC130001195, LOC130001196, LOC130001197, LOC130001198, LOC130001199, LOC130001200, LOC130001201, LOC130001202, LOC130001203, LOC130001204, LOC130001205, LOC130001206, LOC130001207, LOC130001208, LOC130001209, LOC130001210, LOC130001211, LOC130001212, LOC130001213, LOC130001214, LOC130001215, LOC130001216, LOC130001217, LOC130001218, LOC130001219, LOC130001220, LOC130001221, LOC130001222, LOC130001223, LOC130001224, LOC130001225, LOC130001226, LOC130001227, LOC130001228, LOC130001229, LOC130001230, LOC130001231, LOC130001232, LOC130001233, LOC130001234, LOC130001235, LOC130001236, LOC130001237, LOC130001238, LOC130001239, LOC130001240, LOC130001241, LOC130001242, LOC130001243, LOC130001244, LOC130001245, LOC130001246, LOC130001247, LOC132089557, LOC132089558, LOC132089559, LOC132089560, LRATD2, MAL2, MAL2-AS1, MED30, MIR1204, MIR1205, MIR1206, MIR1207, MIR1208, MIR30B, MIR30D, MIR30DHG, MIR3610, MIR3686, MIR4662A, MIR4662B, MIR4663, MIR5194, MIR548AA1, MIR548AZ, MIR548D1, MIR6844, MIR7848, MRPL13, MTBP, MTSS1, MYC, NCRNA00250, NDRG1, NDUFB9, NSMCE2, NTAQ1, OC90, PCAT1, PCAT2, PHF20L1, POU5F1B, PRNCR1, PTCSC1, PVT1, RAD21, RAD21-AS1, RNF139, RNF139-DT, SAMD12, SAMD12-AS1, SLA, SLC30A8, SMILR, SNORD168, SNTB1, SQLE, SQLE-DT, ST3GAL1, ST3GAL1-DT, TAF2, TATDN1, TBC1D31, TG, TMEM65, TMEM71, TNFRSF11B, TRIB1, TRIB1AL, TRM-CAT1-1, TRMT12, TRPS1, UTP23, WASHC5, WASHC5-AS1, ZFAT, ZFAT-AS1, ZHX1, ZHX1-C8orf76, ZHX2, ZNF572 | | Neurodevelopmental disorder | Pathogenic
(Aug 24, 2023) | criteria provided, single submitter |
| - GRCh38:
- Chr4:85624-57073230
| ADGRA3, IGFBP7, LOC112939924, LOC112939928, LOC126806943, LOC126807046, LOC129992001, LOC129992002, LOC129992115, LOC129992116, LOC129992117, LOC129992118, LOC129992007, LOC129992008, LOC129992009, LOC129992010, LOC129992011, LOC129992012, LOC129992013, LOC129992014, LOC129992015, LOC129992016, LOC129992003, LOC129992004, LOC129992017, LOC129992018, LOC129992005, LOC129992006, LOC126807052, LOC126807053, LOC126807054, LOC126807048, LOC126807049, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC126806948, LOC126806949, LOC112978667, LOC112978668, LOC126806950, LOC126806951, LOC126807047, LOC126807050, LOC126807051, LOC112939929, LOC112939930, JAKMIP1-DT, KCNIP4, KCNIP4-IT1, KCTD8, KDR, KIAA0232, LOC112939931, LOC112939932, LOC112939933, LOC112939934, LOC112939935, LOC112939936, LOC112942284, LOC112942285, LOC112942286, LOC112942287, ADRA2C, AFAP1, AFAP1-AS1, ANAPC4, APBB2, ARAP2, ARL9, ATP10D, LOC112978663, LOC112978664, JAKMIP1, KIT, AASDH, ABLIM2, ACOX3, ADD1, ATP5ME, ATP8A1, ATP8A1-DT, BEND4, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf19, C4orf50, CC2D2A, CCDC149, CCDC96, CCKAR, CD38, CEP135, CFAP99, CHIC2, CHRNA9, CLNK, CLOCK, CLRN2, CNGA1, COMMD8, CORIN, COX7B2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRACD, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CWH43, CYTL1, DANCR, DCAF16, DCAF4L1, DCUN1D4, DEFB131A, DGKQ, DHX15, DOK7, DRD5, DTHD1, ERVMER34-1, EVC, EVC2, EXOC1, EXOC1L, FAM114A1, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FIP1L1, FRYL, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GBA3, GNPDA2, GPR78, GRK4, GRPEL1, GRXCR1, GSX2, GUF1, HAUS3, HGFAC, HMX1, HOPX, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, KLB, KLF3, KLF3-AS1, KLHL5, LAP3, LCORL, LDB2, LETM1, LGI2, LIAS, LIMCH1, LINC00504, LINC00682, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01258, LINC01259, LINC01396, LINC01587, LINC01618, LINC02171, LINC02260, LINC02261, LINC02265, LINC02270, LINC02278, LINC02283, LINC02353, LINC02360, LINC02364, LINC02383, LINC02447, LINC02472, LINC02473, LINC02475, LINC02480, LINC02481, LINC02482, LINC02484, LINC02493, LINC02497, LINC02501, LINC02505, LINC02506, LINC02513, LINC02517, LINC02616, LNX1, LNX1-AS1, LNX1-AS2, LOC100129931, LOC100130872, LOC100505912, LOC100506444, LOC101927157, LOC101927179, LOC101928279, LOC101928306, LOC101928532, LOC101928622, LOC101928721, LOC101929161, LOC105374338, LOC105374344, LOC105374409, LOC105374426, LOC105374428, LOC105374438, LOC105374511, LOC105374516, LOC105374556, LOC105374557, LOC105377651, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110011216, LOC110120633, LOC110120693, LOC110120742, LOC110120745, LOC110120757, LOC110120784, LOC110120787, LOC110121111, LOC110121177, LOC110121183, LOC110121237, LOC110121305, LOC110121309, LOC111365176, LOC111465010, LOC111465013, LOC111519897, LOC111721707, LOC111828517, LOC112997536, LOC114004382, LOC114004383, LOC114004385, LOC114004386, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC116158486, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121048741, LOC121048742, LOC121048743, LOC121048744, LOC121048745, LOC121053178, LOC121053179, LOC121053180, LOC121725168, LOC121725169, LOC121725170, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, LOC123477707, LOC123477708, LOC123477709, LOC123477710, LOC123477711, LOC123477712, LOC123477713, LOC123477714, LOC123477715, LOC123477716, LOC123477717, LOC123477718, LOC123477719, LOC123477720, LOC123477721, LOC123477723, LOC123477724, LOC123477725, LOC123477726, LOC123477727, LOC123477728, LOC123477729, LOC123477730, LOC123477731, LOC123477732, LOC123477733, LOC123477734, LOC123477735, LOC123477736, LOC123477737, LOC123477738, LOC123477739, LOC123477740, LOC123477741, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC126806939, LOC126806940, LOC126806941, LOC126806942, LOC126806952, LOC126806953, LOC126806954, LOC126806955, LOC126806956, LOC126806957, LOC126806958, LOC126806959, LOC126806960, LOC126806961, LOC126806962, LOC126806963, LOC126806964, LOC126806965, LOC126806966, LOC126806967, LOC126806968, LOC126806969, LOC126806970, LOC126806971, LOC126806972, LOC126806973, LOC126806974, LOC126806975, LOC126806976, LOC126806977, LOC126806978, LOC126806979, LOC126806980, LOC126806981, LOC126806982, LOC126806983, LOC126806984, LOC126806985, LOC126806986, LOC126806987, LOC126806988, LOC126806989, LOC126806990, LOC126806991, LOC126806992, LOC126806993, LOC126806994, LOC126806995, LOC126806996, LOC126806997, LOC126806998, LOC126806999, LOC126807000, LOC126807001, LOC126807002, LOC126807003, LOC126807004, LOC126807005, LOC126807006, LOC126807007, LOC126807008, LOC126807009, LOC126807010, LOC126807011, LOC126807012, LOC126807013, LOC126807014, LOC126807015, LOC126807016, LOC126807017, LOC126807018, LOC126807019, LOC126807020, LOC126807021, LOC126807022, LOC126807023, LOC126807024, LOC126807025, LOC126807026, LOC126807027, LOC126807028, LOC126807029, LOC126807030, LOC126807031, LOC126807032, LOC126807033, LOC126807034, LOC126807035, LOC126807036, LOC126807037, LOC126807038, LOC126807040, LOC126807041, LOC126807042, LOC126807043, LOC126807044, LOC126807045, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC128125818, LOC128854699, LOC128854700, LOC128854701, LOC128854702, LOC129389202, LOC129389203, LOC129389204, LOC129389205, LOC129389206, LOC129389207, LOC129389208, LOC129389209, LOC129389210, LOC129929027, LOC129991944, LOC129991945, LOC129991946, LOC129991947, LOC129991948, LOC129991949, LOC129991950, LOC129991951, LOC129991952, LOC129991953, LOC129991954, LOC129991955, LOC129991956, LOC129991957, LOC129991958, LOC129991959, LOC129991960, LOC129991961, LOC129991962, LOC129991963, LOC129991964, LOC129991965, LOC129991966, LOC129991967, LOC129991968, LOC129991969, LOC129991970, LOC129991971, LOC129991972, LOC129991973, LOC129991974, LOC129991975, LOC129991976, LOC129991977, LOC129991978, LOC129991979, LOC129991980, LOC129991981, LOC129991982, LOC129991983, LOC129991984, LOC129991985, LOC129991986, LOC129991987, LOC129991988, LOC129991989, LOC129991990, LOC129991991, LOC129991992, LOC129991993, LOC129991994, LOC129991995, LOC129991996, LOC129991997, LOC129991998, LOC129991999, LOC129992000, LOC129992019, LOC129992020, LOC129992021, LOC129992022, LOC129992023, LOC129992024, LOC129992025, LOC129992026, LOC129992027, LOC129992028, LOC129992029, LOC129992030, LOC129992031, LOC129992032, LOC129992033, LOC129992034, LOC129992035, LOC129992036, LOC129992037, LOC129992038, LOC129992039, LOC129992040, LOC129992041, LOC129992042, LOC129992043, LOC129992044, LOC129992045, LOC129992046, LOC129992047, LOC129992048, LOC129992049, LOC129992050, LOC129992051, LOC129992052, LOC129992053, LOC129992054, LOC129992055, LOC129992056, LOC129992057, LOC129992058, LOC129992059, LOC129992060, LOC129992061, LOC129992062, LOC129992063, LOC129992064, LOC129992065, LOC129992066, LOC129992067, LOC129992068, LOC129992069, LOC129992070, LOC129992071, LOC129992072, LOC129992073, LOC129992074, LOC129992075, LOC129992076, LOC129992077, LOC129992078, LOC129992079, LOC129992080, LOC129992081, LOC129992082, LOC129992083, LOC129992084, LOC129992085, LOC129992086, LOC129992087, LOC129992088, LOC129992089, LOC129992090, LOC129992091, LOC129992092, LOC129992093, LOC129992094, LOC129992095, LOC129992096, LOC129992097, LOC129992098, LOC129992099, LOC129992100, LOC129992101, LOC129992102, LOC129992103, LOC129992104, LOC129992105, LOC129992106, LOC129992107, LOC129992108, LOC129992109, LOC129992110, LOC129992111, LOC129992112, LOC129992113, LOC129992114, LOC129992119, LOC129992120, LOC129992121, LOC129992122, LOC129992123, LOC129992124, LOC129992125, LOC129992126, LOC129992127, LOC129992128, LOC129992129, LOC129992130, LOC129992131, LOC129992132, LOC129992133, LOC129992134, LOC129992135, LOC129992136, LOC129992137, LOC129992138, LOC129992139, LOC129992140, LOC129992141, LOC129992142, LOC129992143, LOC129992144, LOC129992145, LOC129992146, LOC129992147, LOC129992148, LOC129992149, LOC129992150, LOC129992151, LOC129992152, LOC129992153, LOC129992154, LOC129992155, LOC129992156, LOC129992157, LOC129992158, LOC129992159, LOC129992160, LOC129992161, LOC129992162, LOC129992163, LOC129992164, LOC129992165, LOC129992166, LOC129992167, LOC129992168, LOC129992169, LOC129992170, LOC129992171, LOC129992172, LOC129992173, LOC129992174, LOC129992175, LOC129992176, LOC129992177, LOC129992178, LOC129992179, LOC129992180, LOC129992181, LOC129992182, LOC129992183, LOC129992184, LOC129992185, LOC129992186, LOC129992187, LOC129992188, LOC129992189, LOC129992190, LOC129992191, LOC129992192, LOC129992193, LOC129992194, LOC129992195, LOC129992196, LOC129992197, LOC129992198, LOC129992199, LOC129992200, LOC129992201, LOC129992202, LOC129992203, LOC129992204, LOC129992205, LOC129992206, LOC129992207, LOC129992208, LOC129992209, LOC129992210, LOC129992211, LOC129992212, LOC129992213, LOC129992214, LOC129992215, LOC129992216, LOC129992217, LOC129992218, LOC129992219, LOC129992220, LOC129992221, LOC129992222, LOC129992223, LOC129992224, LOC129992225, LOC129992226, LOC129992227, LOC129992228, LOC129992229, LOC129992230, LOC129992231, LOC129992232, LOC129992233, LOC129992234, LOC129992235, LOC129992236, LOC129992237, LOC129992238, LOC129992239, LOC129992240, LOC129992241, LOC129992242, LOC129992243, LOC129992244, LOC129992245, LOC129992246, LOC129992247, LOC129992248, LOC129992249, LOC129992250, LOC129992251, LOC129992252, LOC129992253, LOC129992254, LOC129992255, LOC129992256, LOC129992257, LOC129992258, LOC129992259, LOC129992260, LOC129992261, LOC129992262, LOC129992263, LOC129992264, LOC129992265, LOC129992266, LOC129992267, LOC129992268, LOC129992269, LOC129992270, LOC129992271, LOC129992272, LOC129992273, LOC129992274, LOC129992275, LOC129992276, LOC129992277, LOC129992278, LOC129992279, LOC129992280, LOC129992281, LOC129992282, LOC129992283, LOC129992284, LOC129992285, LOC129992286, LOC129992287, LOC129992288, LOC129992289, LOC129992290, LOC129992291, LOC129992292, LOC129992293, LOC129992294, LOC129992295, LOC129992296, LOC129992297, LOC129992298, LOC129992299, LOC129992300, LOC129992301, LOC129992302, LOC129992303, LOC129992304, LOC129992305, LOC129992306, LOC129992307, LOC129992308, LOC129992309, LOC129992310, LOC129992311, LOC129992312, LOC129992313, LOC129992314, LOC129992315, LOC129992316, LOC129992317, LOC129992318, LOC129992319, LOC129992320, LOC129992321, LOC129992322, LOC129992323, LOC129992324, LOC129992325, LOC129992326, LOC129992327, LOC129992328, LOC129992329, LOC129992330, LOC129992331, LOC129992332, LOC129992333, LOC129992334, LOC129992335, LOC129992336, LOC129992337, LOC129992338, LOC129992339, LOC129992340, LOC129992341, LOC129992342, LOC129992343, LOC129992344, LOC129992345, LOC129992346, LOC129992347, LOC129992348, LOC129992349, LOC129992350, LOC129992351, LOC129992352, LOC129992353, LOC129992354, LOC129992355, LOC129992356, LOC129992357, LOC129992358, LOC129992359, LOC129992360, LOC129992361, LOC129992362, LOC129992363, LOC129992364, LOC129992365, LOC129992366, LOC129992367, LOC129992368, LOC129992369, LOC129992370, LOC129992371, LOC129992372, LOC129992373, LOC129992374, LOC129992375, LOC129992376, LOC129992377, LOC129992378, LOC129992379, LOC129992380, LOC129992381, LOC129992382, LOC129992383, LOC129992384, LOC129992385, LOC129992386, LOC129992387, LOC129992388, LOC129992389, LOC129992390, LOC129992391, LOC129992392, LOC129992393, LOC129992394, LOC129992395, LOC129992396, LOC129992397, LOC129992398, LOC129992399, LOC129992400, LOC129992401, LOC129992402, LOC129992403, LOC129992404, LOC129992405, LOC129992406, LOC129992407, LOC129992408, LOC129992409, LOC129992410, LOC129992411, LOC129992412, LOC129992413, LOC129992414, LOC129992415, LOC129992416, LOC129992417, LOC129992418, LOC129992419, LOC129992420, LOC129992421, LOC129992422, LOC129992423, LOC129992424, LOC129992425, LOC129992426, LOC129992427, LOC129992428, LOC129992429, LOC129992430, LOC129992431, LOC129992432, LOC129992433, LOC129992434, LOC129992435, LOC129992436, LOC129992437, LOC129992438, LOC129992439, LOC129992440, LOC129992441, LOC129992442, LOC129992443, LOC129992444, LOC129992445, LOC129992446, LOC129992447, LOC129992448, LOC129992449, LOC129992450, LOC129992451, LOC129992452, LOC129992453, LOC129992454, LOC129992455, LOC129992456, LOC129992457, LOC129992458, LOC129992459, LOC129992460, LOC129992461, LOC129992462, LOC129992463, LOC129992464, LOC129992465, LOC129992466, LOC129992467, LOC129992468, LOC129992469, LOC129992470, LOC129992471, LOC129992472, LOC129992473, LOC129992474, LOC129992475, LOC129992476, LOC129992477, LOC129992478, LOC129992479, LOC129992480, LOC129992481, LOC129992482, LOC129992483, LOC129992484, LOC129992485, LOC129992486, LOC129992487, LOC129992488, LOC129992489, LOC129992490, LOC129992491, LOC129992492, LOC129992493, LOC129992494, LOC129992495, LOC129992496, LOC129992497, LOC129992498, LOC129992499, LOC129992500, LOC129992501, LOC129992502, LOC129992503, LOC129992504, LOC129992505, LOC129992506, LOC129992507, LOC129992508, LOC129992509, LOC129992510, LOC129992511, LOC129992512, LOC129992513, LOC129992514, LOC129992515, LOC129992516, LOC129992517, LOC129992518, LOC129992519, LOC129992520, LOC129992521, LOC129992522, LOC129992523, LOC129992524, LOC129992525, LOC129992526, LOC129992527, LOC129992528, LOC129992529, LOC129992530, LOC129992531, LOC129992532, LOC129992533, LOC129992534, LOC129992535, LOC129992536, LOC129992537, LOC129992538, LOC129992539, LOC129992540, LOC129992541, LOC129992542, LOC129992543, LOC129992544, LOC129992545, LOC129992546, LOC129992547, LOC129992548, LOC129992549, LOC129992550, LOC129992551, LOC129992552, LOC129992553, LOC129992554, LOC129992555, LOC129992556, LOC129992557, LOC129992558, LOC129992559, LOC129992560, LOC129992561, LOC129992562, LOC129992563, LOC129992564, LOC129992565, LOC129992566, LOC129992567, LOC129992568, LOC129992569, LOC129992570, LOC129992571, LOC129992572, LOC129992573, LOC129992574, LOC129992575, LOC129992576, LOC129992577, LOC129992578, LOC129992579, LOC129992580, LOC129992581, LOC129992582, LOC129992583, LOC129992584, LOC129992585, LOC129992586, LOC129992587, LOC129992588, LOC129992589, LOC129992590, LOC129992591, LOC129992592, LOC129992593, LOC129992594, LOC129992595, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, LOC129992607, LOC129992608, LOC129992609, LOC129992610, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617, LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, LOC132089075, LOC132089111, LOC132089112, LOC132089113, LOC132089114, LOC132089115, LOC132089116, LOC132089117, LOC132089118, LOC132089119, LOC132089120, LOC132089121, LOC132089122, LOC132089123, LOC132089124, LOC132089125, LOC132089126, LOC132089127, LOC132089128, LOC132089129, LOC132089130, LOC132089131, LOC132089132, LOC132089133, LOC132089134, LOC132089135, LOC132089136, LOC132089137, LOC132089138, LOC132089139, LOC132089140, LOC132089141, LOC132089142, LOC132089143, LOC132089144, LOC132089145, LOC132089146, LOC132089147, LOC132089148, LOC132089149, LOC132089150, LOC132089151, LOC132089152, LOC132089153, LOC132089154, LOC132089155, LOC132089156, LOC132089157, LOC132089158, LOC132090704, LOC132090705, LOC132090706, LOC132090707, LOC132205958, LOC389199, LOC439933, LRPAP1, LRRC66, LYAR, MAEA, MAN2B2, MED28, MED28-DT, MFSD10, MIR12113, MIR12115, MIR1255B1, MIR218-1, MIR3138, MIR378D1, MIR4274, MIR4275, MIR4449, MIR4798, MIR4800, MIR4801, MIR4802, MIR5091, MIR548I2, MIR5591, MIR571, MIR572, MIR573, MIR574, MIR7978, MIR8053, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, N4BP2, NAT8L, NCAPG, NELFA, NFXL1, NICOL1, NIPAL1, NKX1-1, NKX3-2, NMU, NOA1, NOP14, NOP14-AS1, NSD2, NSG1, NSUN7, NWD2, OCIAD1, OCIAD1-AS1, OCIAD2, OTOP1, PACRGL, PAICS, PCDH7, PCGF3, PCGF3-AS1, PDCL2, PDE6B, PDE6B-AS1, PDGFRA, PDS5A, PGM2, PHOX2B, PHOX2B-AS1, PI4K2B, PIGG, POLN, POLR2B, PPARGC1A, PPAT, PPP2R2C, PROM1, PSAPL1, PTTG2, QDPR, RAB28, RASL11B, RBM47, RBPJ, RELL1, REST, RFC1, RGS12, RHOH, RNF212, RNF4, RPL9, S100P, SCARNA22, SCFD2, SEL1L3, SEPSECS, SEPSECS-AS1, SGCB, SH3BP2, SH3TC1, SHISA3, SLAIN2, SLBP, SLC10A4, SLC26A1, SLC2A9, SLC2A9-AS1, SLC30A9, SLC34A2, SLC49A3, SLIT2, SLIT2-IT1, SMIM14, SMIM14-DT, SMIM20, SNORA26, SNORA75B, SNORD162, SOD3, SORCS2, SPATA18, SPINK2, SPMAP2L, SPON2, SRD5A3, SRD5A3-AS1, SRP72, STIM2, STIM2-AS1, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TAPT1, TAPT1-AS1, TBC1D1, TBC1D14, TBC1D19, TEC, TLR1, TLR10, TLR6, TMEM128, TMEM129, TMEM156, TMEM165, TMEM175, TMEM271, TMEM33, TNIP2, TRMT44, TXK, UBE2K, UCHL1, UCHL1-DT, UGDH, UGDH-AS1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP46, USP46-DT, UVSSA, WDR1, WDR19, WFS1, YIPF7, ZAR1, ZBTB49, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732 | | Neurodevelopmental disorder | Pathogenic
(Aug 24, 2023) | criteria provided, single submitter |