| - GRCh37:
- Chr22:51169391-51169392
- GRCh38:
- Chr22:50730963-50730964
| SHANK3 | H1693fs | Phelan-McDermid syndrome | Pathogenic
(Sep 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51160646-51160647
- GRCh38:
- Chr22:50722218-50722219
| SHANK3 | R1539fs | Phelan-McDermid syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr22:51160396-51160397
- GRCh38:
- Chr22:50721968-50721969
| SHANK3 | S1455fs | Phelan-McDermid syndrome | Pathogenic
(Oct 9, 2023) | no assertion criteria provided |
| - GRCh38:
- Chr22:49757859-50740457
| ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LMF2, LOC105373100, LOC105377205, LOC108281149, LOC121627956, LOC121853047, LOC121853048, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067797, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR6821, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TRABD, TRABD-AS1, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic
(Aug 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51158950-51158984
- GRCh38:
- Chr22:50720522-50720556
| SHANK3 | D972fs | Phelan-McDermid syndrome | Likely pathogenic
(May 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159425
- GRCh38:
- Chr22:50720997
| SHANK3 | E1130fs | Phelan-McDermid syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr22:51160376
- GRCh38:
- Chr22:50721948
| SHANK3 | T1448fs | Phelan-McDermid syndrome | Pathogenic
(Apr 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51113522
- GRCh38:
- Chr22:50675094
| SHANK3 | Q112P, Q37P | Phelan-McDermid syndrome | Likely benign
(Dec 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr22:51159604
- GRCh38:
- Chr22:50721176
| SHANK3 | R1115*, R1190* | Phelan-McDermid syndrome | Likely pathogenic
(Dec 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51142677
- GRCh38:
- Chr22:50704249
| LOC126863188, SHANK3 | | Phelan-McDermid syndrome | Pathogenic
(Jan 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51117304
- GRCh38:
- Chr22:50678876
| SHANK3 | A186T, A261T | Phelan-McDermid syndrome | Uncertain significance
(Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159478-51159484
- GRCh38:
- Chr22:50721050-50721056
| SHANK3 | P1148fs | Phelan-McDermid syndrome | Likely pathogenic
(Nov 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51117323
- GRCh38:
- Chr22:50678895
| SHANK3 | R192H, R267H | Phelan-McDermid syndrome | Uncertain significance
(Oct 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51117023
- GRCh38:
- Chr22:50678595
| SHANK3 | K117R, K192R | Phelan-McDermid syndrome | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51117071
- GRCh38:
- Chr22:50678643
| SHANK3 | R133H, R208H | Phelan-McDermid syndrome | Uncertain significance
(Jun 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159984-51159985
- GRCh38:
- Chr22:50721556-50721557
| SHANK3 | M1317fs | Phelan-McDermid syndrome | Likely pathogenic
(Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51112997
- GRCh38:
- Chr22:50674569
| SHANK3 | G52E | Phelan-McDermid syndrome | Uncertain significance
(Dec 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51169483-51169484
- GRCh38:
- Chr22:50731055-50731056
| SHANK3 | G1723fs | Phelan-McDermid syndrome | Likely pathogenic
(Feb 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51169225-51169226
- GRCh38:
- Chr22:50730797-50730798
| SHANK3 | Y1636* | Phelan-McDermid syndrome | Pathogenic
(Nov 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51133241
- GRCh38:
- Chr22:50694813
| SHANK3 | R357*, R432* | Phelan-McDermid syndrome | Pathogenic
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51117559
- GRCh38:
- Chr22:50679131
| SHANK3 | H238R, H313R | Phelan-McDermid syndrome | Uncertain significance
(May 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51169223
- GRCh38:
- Chr22:50730795
| SHANK3 | S1560W, S1635W | Phelan-McDermid syndrome | Uncertain significance
(Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:107826166
- GRCh38:
- ChrX:108582936
| COL4A5 | K330R | Phelan-McDermid syndrome | Uncertain significance
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51169227
- GRCh38:
- Chr22:50730799
| SHANK3 | Y1561*, Y1636* | Phelan-McDermid syndrome | Pathogenic
(Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159670-51159671
- GRCh38:
- Chr22:50721242-50721243
| SHANK3 | D1212fs | Phelan-McDermid syndrome | Pathogenic
(Nov 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159535-51159568
- GRCh38:
- Chr22:50721107-50721140
| SHANK3 | F1168fs | Phelan-McDermid syndrome | Pathogenic
(Nov 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159987-51159988
- GRCh38:
- Chr22:50721559-50721560
| SHANK3 | Q1318fs | Phelan-McDermid syndrome | Pathogenic
(Nov 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51153393-51153396
- GRCh38:
- Chr22:50714965-50714968
| SHANK3 | D804fs | Phelan-McDermid syndrome | Pathogenic
(Nov 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159286
- GRCh38:
- Chr22:50720858
| SHANK3 | F1084fs | Phelan-McDermid syndrome | Pathogenic
(Apr 5, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr22:51117595
- GRCh38:
- Chr22:50679167
| SHANK3 | G250V, G325V | Phelan-McDermid syndrome | Uncertain significance
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51144583-51144591
- GRCh38:
- Chr22:50706155-50706163
| SHANK3 | | Phelan-McDermid syndrome | Uncertain significance
(Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159725
- GRCh38:
- Chr22:50721297
| SHANK3 | S1155C, S1230C | Phelan-McDermid syndrome | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51158904-51158905
- GRCh38:
- Chr22:50720476-50720477
| SHANK3 | Y957fs | Phelan-McDermid syndrome | Likely pathogenic
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159004
- GRCh38:
- Chr22:50720576
| SHANK3 | E991fs | Phelan-McDermid syndrome | Likely pathogenic
(May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51160025
- GRCh38:
- Chr22:50721597
| SHANK3 | R1255Q, R1330Q | Phelan-McDermid syndrome | Uncertain significance
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51160513
- GRCh38:
- Chr22:50722085
| SHANK3 | L1418F, L1493F | Phelan-McDermid syndrome | Uncertain significance
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51160766
- GRCh38:
- Chr22:50722338
| SHANK3 | Q1502R, Q1577R | Phelan-McDermid syndrome | Uncertain significance
(Jan 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159215-51159216
- GRCh38:
- Chr22:50720787-50720788
| SHANK3 | T1063fs | Phelan-McDermid syndrome | Likely pathogenic
(Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159476
- GRCh38:
- Chr22:50721048
| SHANK3 | P1148fs | Phelan-McDermid syndrome | Likely pathogenic
(Oct 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51158907
- GRCh38:
- Chr22:50720479
| SHANK3 | Y882*, Y957* | Phelan-McDermid syndrome | Pathogenic
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:49602454-51183869
| ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, ODF3B, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SHANK3, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr22:51121452-51197838
| ACR, SHANK3 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| | | R300L, R375L | Phelan-McDermid syndrome | Uncertain significance
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159424
- GRCh38:
- Chr22:50720996
| SHANK3 | E1130fs | Phelan-McDermid syndrome | Pathogenic
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51117289
- GRCh38:
- Chr22:50678861
| SHANK3 | R256C | Phelan-McDermid syndrome | Uncertain significance
(Jun 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159986-51159998
- GRCh38:
- Chr22:50721558-50721570
| SHANK3 | Q1318fs | Phelan-McDermid syndrome | Pathogenic
(Mar 24, 2021) | criteria provided, single submitter |
| | SHANK3 | A319V, A394V | Phelan-McDermid syndrome | Uncertain significance
(Apr 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51153350
- GRCh38:
- Chr22:50714922
| SHANK3 | | Phelan-McDermid syndrome | Uncertain significance
(Jul 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159900-51159901
- GRCh38:
- Chr22:50721472-50721473
| SHANK3 | A1289fs | Phelan-McDermid syndrome | Pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:51169208
- GRCh38:
- Chr22:50730780
| SHANK3 | P1630L | Phelan-McDermid syndrome | Uncertain significance
(Aug 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51150063
- GRCh38:
- Chr22:50711635
| SHANK3 | | Phelan-McDermid syndrome | Likely pathogenic
(Nov 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51133259
- GRCh38:
- Chr22:50694831
| SHANK3 | G438S | not provided, Phelan-McDermid syndrome | Uncertain significance
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:51133520
- GRCh38:
- Chr22:50695092
| SHANK3 | | Phelan-McDermid syndrome | Benign
(Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42321321-51244066
| A4GALT, ACR, ADM2, ALG12, ARFGAP3, ARHGAP8, ARSA, ATP5MGL, ATXN10, BIK, BRD1, CDPF1, CELSR1, CENPM, CERK, CHKB, CPT1B, CRELD2, CYB5R3, CYP2D6, DENND6B, EFCAB6, FAM118A, FBLN1, GRAMD4, GTSE1, HDAC10, IL17REL, KIAA0930, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MCAT, MIOX, MIRLET7A3, MIRLET7B, MLC1, MOV10L1, MPPED1, NAGA, NCAPH2, NDUFA6, NFAM1, NUP50, ODF3B, PACSIN2, PANX2, PARVB, PARVG, PHETA2, PHF21B, PIM3, PKDREJ, PLXNB2, PNPLA3, PNPLA5, POLDIP3, PPARA, PPP6R2, PRR34, PRR5, PRR5-ARHGAP8, RABL2B, RIBC2, RRP7A, RTL6, SAMM50, SBF1, SCO2, SCUBE1, SELENOO, SEPTIN3, SERHL2, SHANK3, SHISAL1, SMC1B, SMDT1, SULT4A1, SYCE3, TAFA5, TBC1D22A, TCF20, TNFRSF13C, TRABD, TRMU, TSPO, TTC38, TTLL1, TTLL12, TTLL8, TUBGCP6, TYMP, UPK3A, WBP2NL, WNT7B, ZBED4 | | Phelan-McDermid syndrome | Pathogenic
(Feb 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51160309-51160310
- GRCh38:
- Chr22:50721881-50721882
| SHANK3 | E1425fs | Phelan-McDermid syndrome | Likely pathogenic
(Jan 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51133283
- GRCh38:
- Chr22:50694855
| SHANK3 | Q446* | Phelan-McDermid syndrome | Pathogenic
(Feb 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51169479
- GRCh38:
- Chr22:50731051
| SHANK3 | | Inborn genetic diseases, not provided, Phelan-McDermid syndrome
| Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:51117811
- GRCh38:
- Chr22:50679383
| SHANK3 | N355K | Phelan-McDermid syndrome | Likely pathogenic
(Oct 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51121760
- GRCh38:
- Chr22:50683332
| SHANK3 | | not provided, Phelan-McDermid syndrome, Schizophrenia 15
| Benign/Likely benign
(Dec 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:51159050
- GRCh38:
- Chr22:50720622
| SHANK3 | P1005L | Phelan-McDermid syndrome | Uncertain significance
(Sep 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51160768
- GRCh38:
- Chr22:50722340
| SHANK3 | Q1578* | Phelan-McDermid syndrome | Likely pathogenic
(Jun 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51113506
- GRCh38:
- Chr22:50675078
| SHANK3 | V107L | Phelan-McDermid syndrome | Uncertain significance
(Mar 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51117022
- GRCh38:
- Chr22:50678594
| SHANK3 | K192* | Phelan-McDermid syndrome | Pathogenic
(Sep 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51113602
- GRCh38:
- Chr22:50675174
| SHANK3 | A139T | Phelan-McDermid syndrome | Uncertain significance
(Feb 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51142321
- GRCh38:
- Chr22:50703893
| LOC126863188, SHANK3 | R624P | Phelan-McDermid syndrome | Likely pathogenic
(Nov 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51169376
- GRCh38:
- Chr22:50730948
| SHANK3 | S1686W | not provided, Phelan-McDermid syndrome | Uncertain significance
(Jan 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:51158684
- GRCh38:
- Chr22:50720256
| SHANK3 | R883P | not provided, Phelan-McDermid syndrome | Uncertain significance
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:51159348
- GRCh38:
- Chr22:50720920
| SHANK3 | L1105fs | Schizophrenia 15, Phelan-McDermid syndrome | Likely pathogenic
(May 11, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr22:51160144-51160146
- GRCh38:
- Chr22:50721716-50721718
| SHANK3 | E1371del | not provided | Uncertain significance
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51160326-51160327
- GRCh38:
- Chr22:50721898-50721899
| SHANK3 | V1432fs | not provided, Intellectual disability, Phelan-McDermid syndrome
| Pathogenic
(Dec 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh38:
- Chr22:44702479-50806138
| CPT1B, CRELD2, LOC126863182, LOC126863183, LOC130067728, LOC130067729, LOC130067730, LOC130067731, LOC130067732, LOC130067735, LOC130067736, LOC130067741, LOC130067742, LOC130067662, LOC130067663, LOC126863186, LOC126863187, LOC126863188, LOC129391291, LOC130067661, LOC128772436, LOC128772437, LOC130067733, LOC130067734, LOC130067737, LOC130067738, LOC130067739, LOC130067740, LOC130067743, LOC130067744, LOC130067745, DENND6B, EPIC1, FAM118A, FBLN1, KLHDC7B, KLHDC7B-DT, LINC00898, LINC00899, GRAMD4, GTSE1, GTSE1-DT, HDAC10, IL17REL, KIAA0930, LOC126863184, LOC126863185, LOC128772438, LOC129391286, LOC129391287, LOC129391288, LOC129391289, LOC129391290, ACR, ADM2, ALG12, ARHGAP8, ARSA, ATXN10, BRD1, CDPF1, CELSR1, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, LINC01310, LINC01589, LINC01644, LINC02925, LINC02939, LMF2, LOC101927551, LOC105373064, LOC105373100, LOC105377205, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108660404, LOC110121397, LOC111556137, LOC111828508, LOC111828509, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004364, LOC114827849, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853046, LOC121853047, LOC121853048, LOC125446255, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863164, LOC126863165, LOC126863166, LOC126863167, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC130067664, LOC130067665, LOC130067666, LOC130067667, LOC130067668, LOC130067669, LOC130067670, LOC130067671, LOC130067672, LOC130067673, LOC130067674, LOC130067675, LOC130067676, LOC130067677, LOC130067678, LOC130067679, LOC130067680, LOC130067681, LOC130067682, LOC130067683, LOC130067684, LOC130067685, LOC130067686, LOC130067687, LOC130067688, LOC130067689, LOC130067690, LOC130067691, LOC130067692, LOC130067693, LOC130067694, LOC130067695, LOC130067696, LOC130067697, LOC130067698, LOC130067699, LOC130067700, LOC130067701, LOC130067702, LOC130067703, LOC130067704, LOC130067705, LOC130067706, LOC130067707, LOC130067708, LOC130067709, LOC130067710, LOC130067711, LOC130067712, LOC130067713, LOC130067714, LOC130067715, LOC130067716, LOC130067717, LOC130067718, LOC130067719, LOC130067720, LOC130067721, LOC130067722, LOC130067723, LOC130067724, LOC130067725, LOC130067726, LOC130067727, LOC130067746, LOC130067747, LOC130067748, LOC130067749, LOC130067750, LOC130067751, LOC130067752, LOC130067753, LOC130067754, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067759, LOC130067760, LOC130067761, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067797, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC130067889, LOC132090653, LOC132090654, LOC132090655, LOC132090656, LOC132090657, LOC132090923, LOC132090924, LOC284933, LOC339685, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR1249, MIR3201, MIR3619, MIR3667, MIR3667HG, MIR4535, MIR4762, MIR4763, MIR6821, MIRLET7A3, MIRLET7B, MIRLET7BHG, MLC1, MOV10L1, NCAPH2, NHIP, NUP50, NUP50-DT, PANX2, PHF21B, PIM3, PKDREJ, PLXNB2, PPARA, PPP6R2, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, RABL2B, RIBC2, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SMC1B, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TBC1D22A-DT, TRABD, TRABD-AS1, TRMU, TTC38, TTLL8, TUBGCP6, TYMP, UPK3A, WNT7B, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:44245760-50806121
| LOC121627953, LOC121627954, LOC121627955, LOC130067688, LOC130067729, LOC130067730, LOC130067813, LOC132090923, LOC132090924, MIRLET7A3, LOC130067825, LOC130067826, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067827, LOC130067823, LOC130067824, LOC284933, LOC339685, MAPK11, MAPK12, MIR3667, MIR3667HG, MIR4763, MIR6821, MAPK8IP2, MIOX, MIR12114, MIR1249, MIR3201, MIR3619, LOC130067731, LOC130067732, LOC130067737, LOC130067738, LOC130067733, LOC130067734, LOC130067735, LOC130067736, LOC130067739, LOC130067740, LOC130067741, LOC130067742, LOC130067743, LOC130067744, LOC130067745, LOC130067746, LOC130067747, LOC130067748, LOC130067749, LOC130067750, MIR4535, MIR4762, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC121627956, LOC121853046, LOC126863165, LOC126863166, LOC126863167, ACR, ADM2, ALG12, LOC121853047, LOC121853048, LOC125446255, LOC125446257, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863163, LOC126863164, LOC125446258, ARHGAP8, ARSA, ATXN10, BRD1, CDPF1, CELSR1, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, EPIC1, FAM118A, FBLN1, GRAMD4, GTSE1, GTSE1-DT, HDAC10, IL17REL, KIAA0930, KLHDC7B, KLHDC7B-DT, LINC00207, LINC00229, LINC00898, LINC00899, LINC01310, LINC01589, LINC01644, LINC01656, LINC02925, LINC02939, LMF2, LOC101927551, LOC105373064, LOC105373100, LOC105377205, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108660404, LOC110121397, LOC111556137, LOC111828508, LOC111828509, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004364, LOC114827849, LOC121627951, LOC121627952, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC128772436, LOC128772437, LOC128772438, LOC129391286, LOC129391287, LOC129391288, LOC129391289, LOC129391290, LOC129391291, LOC130067657, LOC130067658, LOC130067659, LOC130067660, LOC130067661, LOC130067662, LOC130067663, LOC130067664, LOC130067665, LOC130067666, LOC130067667, LOC130067668, LOC130067669, LOC130067670, LOC130067671, LOC130067672, LOC130067673, LOC130067674, LOC130067675, LOC130067676, LOC130067677, LOC130067678, LOC130067679, LOC130067680, LOC130067681, LOC130067682, LOC130067683, LOC130067684, LOC130067685, LOC130067686, LOC130067687, LOC130067689, LOC130067690, LOC130067691, LOC130067692, LOC130067693, LOC130067694, LOC130067695, LOC130067696, LOC130067697, LOC130067698, LOC130067699, LOC130067700, LOC130067701, LOC130067702, LOC130067703, LOC130067704, LOC130067705, LOC130067706, LOC130067707, LOC130067708, LOC130067709, LOC130067710, LOC130067711, LOC130067712, LOC130067713, LOC130067714, LOC130067715, LOC130067716, LOC130067717, LOC130067718, LOC130067719, LOC130067720, LOC130067721, LOC130067722, LOC130067723, LOC130067724, LOC130067725, LOC130067726, LOC130067727, LOC130067728, LOC130067751, LOC130067752, LOC130067753, LOC130067754, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067759, LOC130067760, LOC130067761, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067797, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC130067889, LOC132090653, LOC132090654, LOC132090655, LOC132090656, LOC132090657, MIRLET7B, MIRLET7BHG, MLC1, MOV10L1, NCAPH2, NHIP, NUP50, NUP50-DT, PANX2, PHF21B, PIM3, PKDREJ, PLXNB2, PPARA, PPP6R2, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, RABL2B, RIBC2, RTL6, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SHISAL1, SMC1B, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TBC1D22A-DT, TRABD, TRABD-AS1, TRMU, TTC38, TTLL8, TUBGCP6, TYMP, UPK3A, WNT7B, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:49181210-50759297
| DENND6B, HDAC10, LOC130067815, LOC130067816, MLC1, ZBED4, PLXNB2, TYMP, PIM3, LOC130067817, LOC130067818, LOC130067819, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067820, LOC130067821, LMF2, LOC105373100, LOC130067830, LOC130067831, MOV10L1, NCAPH2, PANX2, PPP6R2, SBF1, SCO2, SELENOO, SELENOO-AS1, IL17REL, LOC121627956, LOC121853047, LOC121853048, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126863182, KLHDC7B, KLHDC7B-DT, LOC105377205, LOC108281149, LOC111828509, ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC129391289, LOC129391290, LOC129391291, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067797, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC132090657, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR3667, MIR3667HG, MIR6821, SHANK3, SYCE3, TRABD, TRABD-AS1, TTLL8, TUBGCP6 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:46467175-50759338
| LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067785, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC130067786, LOC130067787, LOC130067800, LOC130067801, LOC130067788, LOC130067789, LOC130067790, LOC130067794, LOC130067795, LOC130067796, LOC130067791, LOC130067792, LOC130067793, LOC130067797, LOC130067798, LOC130067799, LOC130067749, LOC130067750, LOC130067751, LOC130067752, LOC130067753, LOC130067754, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067759, LOC130067760, LOC130067761, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC132090653, LOC132090654, LOC132090655, LOC132090656, LOC132090657, LOC132090923, LOC132090924, LOC284933, LOC339685, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR3201, MIR3667, MIR3667HG, MIR4535, MIR6821, MLC1, MOV10L1, NCAPH2, NHIP, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TBC1D22A-DT, TRABD, TRABD-AS1, TTLL8, TUBGCP6, TYMP, ZBED4, ACR, ADM2, ALG12, ARSA, BRD1, CELSR1, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, EPIC1, GRAMD4, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC00898, LINC01310, LINC01644, LINC02925, LMF2, LOC105373100, LOC105377205, LOC107832855, LOC108281149, LOC111828509, LOC112695106, LOC112695107, LOC112695108, LOC114827849, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853047, LOC121853048, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC129391286, LOC129391287, LOC129391288, LOC129391289, LOC129391290, LOC129391291, LOC130067720, LOC130067721, LOC130067722, LOC130067723, LOC130067724, LOC130067725, LOC130067726, LOC130067727, LOC130067728, LOC130067729, LOC130067730, LOC130067731, LOC130067732, LOC130067733, LOC130067734, LOC130067735, LOC130067736, LOC130067737, LOC130067738, LOC130067739, LOC130067740, LOC130067741, LOC130067742, LOC130067743, LOC130067744, LOC130067745, LOC130067746, LOC130067747, LOC130067748 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:45819932-50737806
| ADM2, ALG12, ARSA, ATXN10, BRD1, CDPF1, CELSR1, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, EPIC1, GRAMD4, GTSE1, GTSE1-DT, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC00898, LINC00899, LINC01310, LINC01644, LINC02925, LINC02939, LMF2, LOC105373100, LOC105377205, LOC107832855, LOC107985535, LOC108281149, LOC110121397, LOC111828508, LOC111828509, LOC112695106, LOC112695107, LOC112695108, LOC114827849, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853047, LOC121853048, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863167, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC129391286, LOC129391287, LOC129391288, LOC129391289, LOC129391290, LOC129391291, LOC130067693, LOC130067694, LOC130067695, LOC130067696, LOC130067697, LOC130067698, LOC130067699, LOC130067700, LOC130067701, LOC130067702, LOC130067703, LOC130067704, LOC130067705, LOC130067706, LOC130067707, LOC130067708, LOC130067709, LOC130067710, LOC130067711, LOC130067712, LOC130067713, LOC130067714, LOC130067715, LOC130067716, LOC130067717, LOC130067718, LOC130067719, LOC130067720, LOC130067721, LOC130067722, LOC130067723, LOC130067724, LOC130067725, LOC130067726, LOC130067727, LOC130067728, LOC130067729, LOC130067730, LOC130067731, LOC130067732, LOC130067733, LOC130067734, LOC130067735, LOC130067736, LOC130067737, LOC130067738, LOC130067739, LOC130067740, LOC130067741, LOC130067742, LOC130067743, LOC130067744, LOC130067745, LOC130067746, LOC130067747, LOC130067748, LOC130067749, LOC130067750, LOC130067751, LOC130067752, LOC130067753, LOC130067754, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067759, LOC130067760, LOC130067761, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067797, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC132090653, LOC132090654, LOC132090655, LOC132090656, LOC132090657, LOC132090923, LOC132090924, LOC284933, LOC339685, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR3201, MIR3619, MIR3667, MIR3667HG, MIR4535, MIR4763, MIR6821, MIRLET7A3, MIRLET7B, MIRLET7BHG, MLC1, MOV10L1, NCAPH2, NHIP, PANX2, PIM3, PKDREJ, PLXNB2, PPARA, PPP6R2, PRR34, PRR34-AS1, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TBC1D22A-DT, TRABD, TRABD-AS1, TRMU, TTC38, TTLL8, TUBGCP6, TYMP, WNT7B, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:48500337-50739785
| ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC01310, LMF2, LOC105373100, LOC105377205, LOC108281149, LOC111828509, LOC112695107, LOC112695108, LOC121627956, LOC121853047, LOC121853048, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC129391288, LOC129391289, LOC129391290, LOC129391291, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067797, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC132090653, LOC132090654, LOC132090655, LOC132090656, LOC132090657, LOC132090923, LOC132090924, LOC284933, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR3667, MIR3667HG, MIR4535, MIR6821, MLC1, MOV10L1, NCAPH2, NHIP, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TAFA5, TRABD, TRABD-AS1, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:43802117-50806121
| DENND6B, EFCAB6, GRAMD4, GTSE1, KLHDC7B, FAM118A, FBLN1, GTSE1-DT, HDAC10, EFCAB6-DT, IL17REL, KIAA0930, EPIC1, ACR, ADM2, ALG12, ARHGAP8, ARSA, ATXN10, BRD1, CDPF1, CELSR1, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, KLHDC7B-DT, LINC00207, LINC00229, LINC00898, LINC00899, LINC01310, LINC01589, LINC01644, LINC01656, LINC02925, LINC02939, LMF2, LOC101927551, LOC105373064, LOC105373100, LOC105377205, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108660404, LOC110121397, LOC111556137, LOC111828508, LOC111828509, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004363, LOC114004364, LOC114827849, LOC121627950, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853046, LOC121853047, LOC121853048, LOC125446255, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863162, LOC126863163, LOC126863164, LOC126863165, LOC126863166, LOC126863167, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC128772436, LOC128772437, LOC128772438, LOC129391286, LOC129391287, LOC129391288, LOC129391289, LOC129391290, LOC129391291, LOC130067637, LOC130067638, LOC130067639, LOC130067640, LOC130067641, LOC130067642, LOC130067643, LOC130067644, LOC130067645, LOC130067646, LOC130067647, LOC130067648, LOC130067649, LOC130067650, LOC130067651, LOC130067652, LOC130067653, LOC130067654, LOC130067655, LOC130067656, LOC130067657, LOC130067658, LOC130067659, LOC130067660, LOC130067661, LOC130067662, LOC130067663, LOC130067664, LOC130067665, LOC130067666, LOC130067667, LOC130067668, LOC130067669, LOC130067670, LOC130067671, LOC130067672, LOC130067673, LOC130067674, LOC130067675, LOC130067676, LOC130067677, LOC130067678, LOC130067679, LOC130067680, LOC130067681, LOC130067682, LOC130067683, LOC130067684, LOC130067685, LOC130067686, LOC130067687, LOC130067688, LOC130067689, LOC130067690, LOC130067691, LOC130067692, LOC130067693, LOC130067694, LOC130067695, LOC130067696, LOC130067697, LOC130067698, LOC130067699, LOC130067700, LOC130067701, LOC130067702, LOC130067703, LOC130067704, LOC130067705, LOC130067706, LOC130067707, LOC130067708, LOC130067709, LOC130067710, LOC130067711, LOC130067712, LOC130067713, LOC130067714, LOC130067715, LOC130067716, LOC130067717, LOC130067718, LOC130067719, LOC130067720, LOC130067721, LOC130067722, LOC130067723, LOC130067724, LOC130067725, LOC130067726, LOC130067727, LOC130067728, LOC130067729, LOC130067730, LOC130067731, LOC130067732, LOC130067733, LOC130067734, LOC130067735, LOC130067736, LOC130067737, LOC130067738, LOC130067739, LOC130067740, LOC130067741, LOC130067742, LOC130067743, LOC130067744, LOC130067745, LOC130067746, LOC130067747, LOC130067748, LOC130067749, LOC130067750, LOC130067751, LOC130067752, LOC130067753, LOC130067754, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067759, LOC130067760, LOC130067761, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067797, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC130067889, LOC132090653, LOC132090654, LOC132090655, LOC132090656, LOC132090657, LOC132090923, LOC132090924, LOC284933, LOC339685, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR1249, MIR3201, MIR3619, MIR3667, MIR3667HG, MIR4535, MIR4762, MIR4763, MIR6821, MIRLET7A3, MIRLET7B, MIRLET7BHG, MLC1, MOV10L1, NCAPH2, NHIP, NUP50, NUP50-DT, PANX2, PARVB, PARVG, PHF21B, PIM3, PKDREJ, PLXNB2, PNPLA3, PNPLA5, PPARA, PPP6R2, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, RABL2B, RIBC2, RTL6, SAMM50, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SHISAL1, SMC1B, SULT4A1, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TBC1D22A-DT, TRABD, TRABD-AS1, TRMU, TRU-TCA2-1, TTC38, TTLL8, TUBGCP6, TYMP, UPK3A, WNT7B, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:46489644-50806138
| LOC126863185, LOC126863186, LOC126863187, LOC130067797, LOC130067798, LOC130067799, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC132090655, LOC130067888, LOC130067889, LOC132090653, LOC132090654, LOC132090656, LOC130067809, LOC130067810, LOC132090657, LOC132090923, LOC132090924, LOC284933, LOC130067725, LOC130067726, LOC130067727, LOC130067728, LOC130067729, LOC130067730, LOC130067731, LOC130067732, LOC129391286, LOC129391287, LOC129391288, LOC129391289, LOC129391290, LOC129391291, LOC130067721, LOC130067722, LOC130067723, LOC130067724, LOC130067800, LOC130067801, LOC130067802, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067803, LOC130067804, LOC130067805, LOC130067806, ACR, ADM2, LOC130067807, LOC130067808, LOC126863188, ALG12, ARSA, BRD1, CELSR1, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, EPIC1, GRAMD4, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC00898, LINC01310, LINC01644, LINC02925, LMF2, LOC105373100, LOC105377205, LOC107832855, LOC108281149, LOC111828509, LOC112695106, LOC112695107, LOC112695108, LOC114827849, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853047, LOC121853048, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC130067733, LOC130067734, LOC130067735, LOC130067736, LOC130067737, LOC130067738, LOC130067739, LOC130067740, LOC130067741, LOC130067742, LOC130067743, LOC130067744, LOC130067745, LOC130067746, LOC130067747, LOC130067748, LOC130067749, LOC130067750, LOC130067751, LOC130067752, LOC130067753, LOC130067754, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067759, LOC130067760, LOC130067761, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC339685, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR3201, MIR3667, MIR3667HG, MIR4535, MIR6821, MLC1, MOV10L1, NCAPH2, NHIP, PANX2, PIM3, PLXNB2, PPP6R2, RABL2B, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TBC1D22A-DT, TRABD, TRABD-AS1, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:47447433-50806138
| LOC126863188, LOC129391286, LOC130067829, LOC130067830, LOC130067831, PANX2, PIM3, PLXNB2, PPP6R2, RABL2B, SCO2, LOC130067835, LOC130067836, LOC130067837, LOC130067841, LOC130067842, LOC130067845, LOC130067846, LOC130067847, LOC130067838, LOC130067839, LOC130067840, SELENOO, SELENOO-AS1, TYMP, ZBED4, SBF1, TUBGCP6, LOC129391287, LOC129391288, LOC129391289, LOC130067759, LOC130067760, LOC130067761, LOC130067764, LOC130067765, LOC129391290, LOC129391291, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067762, LOC130067763, LOC130067832, LOC130067833, LOC130067843, LOC130067844, LOC130067848, LOC130067849, LOC130067850, LOC130067834, BRD1, CHKB, CHKB-CPT1B, HDAC10, IL17REL, KLHDC7B, ALG12, ARSA, CHKB-DT, CIMAP1B, CPT1B, ACR, ADM2, CRELD2, DENND6B, EPIC1, KLHDC7B-DT, LINC00898, LINC01310, LINC01644, LMF2, LOC105373100, LOC105377205, LOC107832855, LOC108281149, LOC111828509, LOC112695106, LOC112695107, LOC112695108, LOC121627955, LOC121627956, LOC121853047, LOC121853048, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067797, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC130067889, LOC132090653, LOC132090654, LOC132090655, LOC132090656, LOC132090657, LOC132090923, LOC132090924, LOC284933, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR3201, MIR3667, MIR3667HG, MIR4535, MIR6821, MLC1, MOV10L1, NCAPH2, NHIP, SHANK3, SYCE3, TAFA5, TRABD, TRABD-AS1, TTLL8 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:48500344-50780581
| LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC130067839, LOC130067840, LOC130067841, LOC130067842, TRABD-AS1, TTLL8, TUBGCP6, TYMP, LOC126863187, LOC130067843, LOC130067844, LOC130067845, ZBED4, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067855, LOC130067856, LOC130067846, LOC130067847, LOC130067852, LOC130067853, LOC130067854, LOC130067857, LOC130067858, LOC130067774, LOC130067775, LOC130067776, LOC129391290, LOC129391291, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067859, LOC130067860, LOC126863188, LOC129391288, LOC129391289, LOC130067771, LOC130067772, LOC130067773, LOC130067767, LOC130067768, LOC130067769, LOC130067770, ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC01310, LMF2, LOC105373100, LOC105377205, LOC108281149, LOC111828509, LOC112695107, LOC112695108, LOC121627956, LOC121853047, LOC121853048, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126863181, LOC126863182, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067797, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC132090653, LOC132090654, LOC132090655, LOC132090656, LOC132090657, LOC132090923, LOC132090924, LOC284933, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR3667, MIR3667HG, MIR4535, MIR6821, MLC1, MOV10L1, NCAPH2, NHIP, PANX2, PIM3, PLXNB2, PPP6R2, RABL2B, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TAFA5, TRABD | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:47705262-50739836
| LOC130067774, LOC130067775, LOC130067872, LOC130067873, LOC130067776, LOC130067777, LOC130067778, LOC130067874, LOC130067875, LOC130067876, LOC132090657, LOC132090923, LOC132090924, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC132090653, LOC284933, MAPK11, MAPK12, LOC132090654, LOC132090655, LOC132090656, LOC130067795, LOC130067796, LOC130067797, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, CHKB, ARSA, BRD1, CHKB-CPT1B, CHKB-DT, CIMAP1B, ADM2, ALG12, ACR, CPT1B, CRELD2, DENND6B, EPIC1, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC01310, LMF2, LOC105373100, LOC105377205, LOC107832855, LOC108281149, LOC111828509, LOC112695107, LOC112695108, LOC121627956, LOC121853047, LOC121853048, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC129391286, LOC129391287, LOC129391288, LOC129391289, LOC129391290, LOC129391291, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067759, LOC130067760, LOC130067761, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, MAPK8IP2, MIOX, MIR12114, MIR3201, MIR3667, MIR3667HG, MIR4535, MIR6821, MLC1, MOV10L1, NCAPH2, NHIP, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TAFA5, TRABD, TRABD-AS1, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:45708330-50737364
| TRABD, TRABD-AS1, TRMU, TTC38, TTLL8, TYMP, WNT7B, TUBGCP6, ZBED4, MIR3201, MIR3619, MIR3667, MIR3667HG, MIR4535, MIR4762, MIR4763, MIR6821, MIRLET7A3, MIRLET7B, MIRLET7BHG, MLC1, MOV10L1, NCAPH2, NHIP, PANX2, PIM3, PKDREJ, PLXNB2, PPARA, PPP6R2, PRR34, PRR34-AS1, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TBC1D22A-DT, ADM2, ALG12, ARSA, ATXN10, BRD1, CDPF1, CELSR1, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, EPIC1, GRAMD4, GTSE1, GTSE1-DT, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC00898, LINC00899, LINC01310, LINC01644, LINC02925, LINC02939, LMF2, LOC105373100, LOC105377205, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108660404, LOC110121397, LOC111828508, LOC111828509, LOC112695106, LOC112695107, LOC112695108, LOC114827849, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853047, LOC121853048, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863167, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC129391286, LOC129391287, LOC129391288, LOC129391289, LOC129391290, LOC129391291, LOC130067691, LOC130067692, LOC130067693, LOC130067694, LOC130067695, LOC130067696, LOC130067697, LOC130067698, LOC130067699, LOC130067700, LOC130067701, LOC130067702, LOC130067703, LOC130067704, LOC130067705, LOC130067706, LOC130067707, LOC130067708, LOC130067709, LOC130067710, LOC130067711, LOC130067712, LOC130067713, LOC130067714, LOC130067715, LOC130067716, LOC130067717, LOC130067718, LOC130067719, LOC130067720, LOC130067721, LOC130067722, LOC130067723, LOC130067724, LOC130067725, LOC130067726, LOC130067727, LOC130067728, LOC130067729, LOC130067730, LOC130067731, LOC130067732, LOC130067733, LOC130067734, LOC130067735, LOC130067736, LOC130067737, LOC130067738, LOC130067739, LOC130067740, LOC130067741, LOC130067742, LOC130067743, LOC130067744, LOC130067745, LOC130067746, LOC130067747, LOC130067748, LOC130067749, LOC130067750, LOC130067751, LOC130067752, LOC130067753, LOC130067754, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067759, LOC130067760, LOC130067761, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067797, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC132090653, LOC132090654, LOC132090655, LOC132090656, LOC132090657, LOC132090923, LOC132090924, LOC284933, LOC339685, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:46269281-50740560
| ACR, ADM2, ALG12, ARSA, BRD1, CELSR1, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, EPIC1, GRAMD4, GTSE1, GTSE1-DT, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC00898, LINC01310, LINC01644, LINC02925, LMF2, LOC105373100, LOC105377205, LOC107832855, LOC108281149, LOC111828509, LOC112695106, LOC112695107, LOC112695108, LOC114827849, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853047, LOC121853048, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC129391286, LOC129391287, LOC129391288, LOC129391289, LOC129391290, LOC129391291, LOC130067714, LOC130067715, LOC130067716, LOC130067717, LOC130067718, LOC130067719, LOC130067720, LOC130067721, LOC130067722, LOC130067723, LOC130067724, LOC130067725, LOC130067726, LOC130067727, LOC130067728, LOC130067729, LOC130067730, LOC130067731, LOC130067732, LOC130067733, LOC130067734, LOC130067735, LOC130067736, LOC130067737, LOC130067738, LOC130067739, LOC130067740, LOC130067741, LOC130067742, LOC130067743, LOC130067744, LOC130067745, LOC130067746, LOC130067747, LOC130067748, LOC130067749, LOC130067750, LOC130067751, LOC130067752, LOC130067753, LOC130067754, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067759, LOC130067760, LOC130067761, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067797, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC132090653, LOC132090654, LOC132090655, LOC132090656, LOC132090657, LOC132090923, LOC132090924, LOC284933, LOC339685, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR3201, MIR3667, MIR3667HG, MIR4535, MIR6821, MLC1, MOV10L1, NCAPH2, NHIP, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TBC1D22A-DT, TRABD, TRABD-AS1, TRMU, TTC38, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:47513236-50806138
| ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, EPIC1, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC00898, LINC01310, LMF2, LOC105373100, LOC105377205, LOC107832855, LOC108281149, LOC111828509, LOC112695106, LOC112695107, LOC112695108, LOC121627956, LOC121853047, LOC121853048, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC129391286, LOC129391287, LOC129391288, LOC129391289, LOC129391290, LOC129391291, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067759, LOC130067760, LOC130067761, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067797, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC130067889, LOC132090653, LOC132090654, LOC132090655, LOC132090656, LOC132090657, LOC132090923, LOC132090924, LOC284933, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR3201, MIR3667, MIR3667HG, MIR4535, MIR6821, MLC1, MOV10L1, NCAPH2, NHIP, PANX2, PIM3, PLXNB2, PPP6R2, RABL2B, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TAFA5, TRABD, TRABD-AS1, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:43032129-50739836
| CRELD2, DENND6B, EFCAB6, LOC126863170, LOC126863171, LOC130067679, LOC130067680, LOC130067696, LOC130067697, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863174, LOC126863175, LOC130067681, LOC130067682, LOC130067689, LOC130067690, EPIC1, FAM118A, FBLN1, GRAMD4, GTSE1, GTSE1-DT, HDAC10, LOC130067691, LOC130067692, LOC130067693, LOC130067694, LOC130067695, LOC130067683, LOC130067684, LOC130067685, LOC130067686, LOC130067687, LOC130067688, LOC126863172, LOC126863173, IL17REL, KIAA0930, KLHDC7B-DT, LINC00207, LINC00229, EFCAB6-AS1, EFCAB6-DT, KLHDC7B, ACR, ADM2, ALG12, ARHGAP8, ARSA, ATXN10, BIK, BRD1, CDPF1, CELSR1, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, LINC00898, LINC00899, LINC01310, LINC01589, LINC01639, LINC01644, LINC01656, LINC02925, LINC02939, LMF2, LOC101927551, LOC105373064, LOC105373100, LOC105377205, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108660404, LOC110121397, LOC111556137, LOC111828508, LOC111828509, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004363, LOC114004364, LOC114827849, LOC121627948, LOC121627949, LOC121627950, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853045, LOC121853046, LOC121853047, LOC121853048, LOC125446254, LOC125446255, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863161, LOC126863162, LOC126863163, LOC126863164, LOC126863165, LOC126863166, LOC126863167, LOC126863168, LOC126863169, LOC126863188, LOC128772436, LOC128772437, LOC128772438, LOC129391285, LOC129391286, LOC129391287, LOC129391288, LOC129391289, LOC129391290, LOC129391291, LOC130067626, LOC130067627, LOC130067628, LOC130067629, LOC130067630, LOC130067631, LOC130067632, LOC130067633, LOC130067634, LOC130067635, LOC130067636, LOC130067637, LOC130067638, LOC130067639, LOC130067640, LOC130067641, LOC130067642, LOC130067643, LOC130067644, LOC130067645, LOC130067646, LOC130067647, LOC130067648, LOC130067649, LOC130067650, LOC130067651, LOC130067652, LOC130067653, LOC130067654, LOC130067655, LOC130067656, LOC130067657, LOC130067658, LOC130067659, LOC130067660, LOC130067661, LOC130067662, LOC130067663, LOC130067664, LOC130067665, LOC130067666, LOC130067667, LOC130067668, LOC130067669, LOC130067670, LOC130067671, LOC130067672, LOC130067673, LOC130067674, LOC130067675, LOC130067676, LOC130067677, LOC130067678, LOC130067698, LOC130067699, LOC130067700, LOC130067701, LOC130067702, LOC130067703, LOC130067704, LOC130067705, LOC130067706, LOC130067707, LOC130067708, LOC130067709, LOC130067710, LOC130067711, LOC130067712, LOC130067713, LOC130067714, LOC130067715, LOC130067716, LOC130067717, LOC130067718, LOC130067719, LOC130067720, LOC130067721, LOC130067722, LOC130067723, LOC130067724, LOC130067725, LOC130067726, LOC130067727, LOC130067728, LOC130067729, LOC130067730, LOC130067731, LOC130067732, LOC130067733, LOC130067734, LOC130067735, LOC130067736, LOC130067737, LOC130067738, LOC130067739, LOC130067740, LOC130067741, LOC130067742, LOC130067743, LOC130067744, LOC130067745, LOC130067746, LOC130067747, LOC130067748, LOC130067749, LOC130067750, LOC130067751, LOC130067752, LOC130067753, LOC130067754, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067759, LOC130067760, LOC130067761, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, LOC130067772, LOC130067773, LOC130067774, LOC130067775, LOC130067776, LOC130067777, LOC130067778, LOC130067779, LOC130067780, LOC130067781, LOC130067782, LOC130067783, LOC130067784, LOC130067785, LOC130067786, LOC130067787, LOC130067788, LOC130067789, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, LOC130067795, LOC130067796, LOC130067797, LOC130067798, LOC130067799, LOC130067800, LOC130067801, LOC130067802, LOC130067803, LOC130067804, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC132090652, LOC132090653, LOC132090654, LOC132090655, LOC132090656, LOC132090657, LOC132090923, LOC132090924, LOC284933, LOC339685, MAPK11, MAPK12, MAPK8IP2, MCAT, MIOX, MIR12114, MIR1249, MIR3201, MIR3619, MIR3667, MIR3667HG, MIR4535, MIR4762, MIR4763, MIR6821, MIRLET7A3, MIRLET7B, MIRLET7BHG, MLC1, MOV10L1, MPPED1, NCAPH2, NHIP, NUP50, NUP50-DT, PANX2, PARVB, PARVG, PHF21B, PIM3, PKDREJ, PLXNB2, PNPLA3, PNPLA5, PPARA, PPP6R2, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, RIBC2, RTL6, SAMM50, SBF1, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SELENOO, SELENOO-AS1, SHANK3, SHISAL1, SMC1B, SULT4A1, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TBC1D22A-DT, TRABD, TRABD-AS1, TRMU, TRU-TCA2-1, TSPO, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBGCP6, TYMP, UPK3A, WNT7B, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:47823120-50759410
| LOC130067781, LOC130067782, LOC130067783, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067873, LOC130067874, LOC130067872, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067784, LOC130067785, LOC130067790, LOC130067791, LOC130067792, LOC130067793, LOC130067794, CPT1B, CRELD2, CHKB, CHKB-CPT1B, CHKB-DT, HDAC10, LOC130067795, LOC130067796, LOC130067799, LOC130067800, LOC130067786, LOC130067787, LOC130067797, LOC130067798, LOC130067788, LOC130067789, DENND6B, EPIC1, CIMAP1B, ACR, ADM2, ALG12, ARSA, BRD1, IL17REL, KLHDC7B, KLHDC7B-DT, LINC01310, LMF2, LOC105373100, LOC105377205, LOC107832855, LOC108281149, LOC111828509, LOC112695107, LOC112695108, LOC121627956, LOC121853047, LOC121853048, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC129391286, LOC129391287, LOC129391288, LOC129391289, LOC129391290, LOC129391291, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067759, LOC130067760, LOC130067761, LOC130067762, LOC130067763, LOC130067764, LOC130067765, LOC130067766, LOC130067767, LOC130067768, LOC130067769, LOC130067770, LOC130067771, |