| - 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, LOC108281149, LOC121627956, LOC121853047, LOC121853048, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR6821, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TRABD, 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 | Phelan-McDermid syndrome | Uncertain significance
(Apr 17, 2019) | criteria provided, single submitter |
| - 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 | | Phelan-McDermid syndrome, Inborn genetic diseases, not provided
| Conflicting interpretations of pathogenicity
(Oct 2, 2021) | 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 | Phelan-McDermid syndrome, not provided | 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, Phelan-McDermid syndrome, Intellectual disability
| Pathogenic
(Dec 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh38:
- Chr22:44702479-50806138
| ARSA, LOC121627954, LOC121627955, MIR3667, MIR3667HG, MIR4535, MIR4762, MOV10L1, PPP6R2, PRR34, MIRLET7B, MIRLET7BHG, MLC1, ATXN10, BRD1, LOC121627956, LOC121853046, LOC126863173, LOC126863174, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863164, LOC126863165, LOC126863166, LOC126863167, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, CDPF1, CELSR1, LOC121853047, LOC121853048, LOC125446255, MIR4763, MIR6821, MIRLET7A3, NCAPH2, NHIP, NUP50, FAM118A, FBLN1, GRAMD4, GTSE1, GTSE1-DT, HDAC10, IL17REL, KIAA0930, KLHDC7B, DENND6B, EPIC1, CHKB-DT, CIMAP1B, CPT1B, CRELD2, NUP50-DT, PANX2, PHF21B, PIM3, PKDREJ, CERK, CHKB, CHKB-CPT1B, PLXNB2, PPARA, ACR, ADM2, ALG12, ARHGAP8, KLHDC7B-DT, LINC00898, LINC00899, LINC01310, LINC01589, LINC01644, LINC02939, LMF2, LOC101927551, LOC105373064, LOC105373100, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108660404, LOC110121397, LOC111556137, LOC111828508, LOC111828509, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004364, LOC114827849, LOC121627951, LOC121627952, LOC121627953, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC128772436, LOC128772437, LOC128772438, LOC284933, LOC339685, LOC90834, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR1249, MIR3201, MIR3619, PRR34-AS1, PRR5, PRR5-ARHGAP8, RABL2B, RIBC2, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SMC1B, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TRABD, TRMU, TTC38, TTLL8, TUBGCP6, TYMP, UPK3A, WNT7B, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:44245760-50806121
| ACR, LOC125446259, LOC125446260, MIRLET7B, MIRLET7BHG, LOC125446261, LOC125446262, MLC1, MOV10L1, ADM2, ALG12, ARHGAP8, ARSA, ATXN10, LOC126088082, LOC126863163, LOC126863164, NCAPH2, NHIP, NUP50, NUP50-DT, PANX2, PRR5, PRR5-ARHGAP8, RIBC2, RTL6, LOC126863176, LOC126863177, LOC126863174, LOC126863175, PHF21B, PIM3, PLXNB2, PPARA, PPP6R2, RABL2B, PKDREJ, PRR34, PRR34-AS1, HDAC10, IL17REL, KIAA0930, KLHDC7B, LINC00229, LINC00898, LINC00899, KLHDC7B-DT, LINC00207, LINC01310, LINC01589, LINC01644, LOC126863165, LOC126863166, LOC126863178, LOC126863179, LOC126863167, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LINC01656, LINC02939, LMF2, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, EPIC1, FAM118A, FBLN1, GRAMD4, CHKB, CELSR1, CERK, BRD1, CDPF1, GTSE1, GTSE1-DT, LOC101927551, LOC105373064, LOC105373100, 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, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC128772436, LOC128772437, LOC128772438, LOC284933, LOC339685, LOC90834, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR1249, MIR3201, MIR3619, MIR3667, MIR3667HG, MIR4535, MIR4762, MIR4763, MIR6821, MIRLET7A3, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SHISAL1, SMC1B, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TRABD, TRMU, TTC38, TTLL8, TUBGCP6, TYMP, UPK3A, WNT7B, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:49181210-50759297
| ALG12, ARSA, ZBED4, BRD1, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LOC108281149, LOC111828509, LOC121627956, LOC125446260, LOC125446261, LOC125446262, LMF2, LOC105373100, LOC121853047, LOC121853048, LOC125446259, ACR, ADM2, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC90834, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR3667, MIR3667HG, MIR6821, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:46467175-50759338
| LOC125446262, LOC126088082, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863187, LOC126863188, LOC284933, LOC339685, LOC90834, MAPK11, LOC126863184, LOC126863185, LOC126863186, LOC126863176, LOC126863177, LOC126863178, LOC126863179, ACR, ADM2, BRD1, CELSR1, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CRELD2, ALG12, ARSA, CIMAP1B, CPT1B, LOC126863180, LOC126863181, LOC126863182, LOC126863183, DENND6B, EPIC1, GRAMD4, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC00898, LINC01310, LINC01644, LMF2, LOC105373100, LOC107832855, LOC108281149, LOC111828509, LOC112695106, LOC112695107, LOC112695108, LOC114827849, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853047, LOC121853048, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, 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, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:45819932-50737806
| BRD1, CDPF1, CELSR1, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, TBC1D22A, TBC1D22A-AS1, TRABD, TRMU, TTC38, TTLL8, CERK, CHKB, LOC126863178, LOC126863179, CHKB-CPT1B, CHKB-DT, LOC126863180, TUBGCP6, WNT7B, ZBED4, TYMP, MAPK8IP2, MIOX, MIR12114, MIR3201, MIR3619, MIR3667, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC284933, LOC339685, LOC90834, CRELD2, DENND6B, EPIC1, GRAMD4, GTSE1, GTSE1-DT, MAPK11, MAPK12, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC00898, LINC00899, LINC02939, CIMAP1B, CPT1B, LOC126863181, LOC126863182, LOC126863183, LINC01310, LINC01644, ADM2, ALG12, ARSA, ATXN10, LMF2, LOC105373100, 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, 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 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:48500337-50739785
| LOC112695107, LOC112695108, LOC121627956, LOC121853047, LOC121853048, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126863181, LOC126863184, LOC126863188, LOC284933, LOC126863183, LOC126863185, LOC126863186, LOC126863187, LOC90834, MAPK11, MAPK12, LOC126863182, ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC01310, LMF2, LOC105373100, LOC108281149, LOC111828509, MAPK8IP2, MIOX, MIR12114, MIR3667, MIR3667HG, MIR4535, MIR6821, MLC1, MOV10L1, NCAPH2, NHIP, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TAFA5, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:43802117-50806121
| CHKB-DT, CIMAP1B, LOC121627955, LOC121627956, MIR1249, MIR3201, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, CPT1B, CRELD2, LOC121853046, MIR3619, DENND6B, EFCAB6, EFCAB6-DT, LOC121853047, LOC121853048, LOC125446255, MIR3667, MIR3667HG, MIR4535, TRABD, TRMU, WNT7B, ZBED4, TUBGCP6, TYMP, UPK3A, NUP50, NUP50-DT, PANX2, PARVB, MIR6821, MIRLET7A3, MIRLET7B, MIRLET7BHG, MLC1, MOV10L1, TRU-TCA2-1, TTC38, TTLL8, NCAPH2, NHIP, LOC126863164, LOC126863165, LOC126863167, LOC126863168, LOC126863169, LOC126863170, LOC126863166, MIR4762, MIR4763, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863162, LOC126863163, LINC00899, LINC01310, KLHDC7B, KLHDC7B-DT, LINC00207, LOC125446257, LOC125446258, LOC125446259, FBLN1, GRAMD4, GTSE1, GTSE1-DT, HDAC10, IL17REL, KIAA0930, LINC00229, LINC00898, EPIC1, FAM118A, ACR, ADM2, ALG12, ARHGAP8, ARSA, ATXN10, BRD1, CDPF1, CELSR1, CERK, CHKB, CHKB-CPT1B, LINC01589, LINC01644, LINC01656, LINC02939, LMF2, LOC101927551, LOC105373064, LOC105373100, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108660404, LOC110121397, LOC111556137, LOC111828508, LOC111828509, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004363, LOC114004364, LOC114827849, LOC121627950, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC128772436, LOC128772437, LOC128772438, LOC284933, LOC339685, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, 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 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:46489644-50806138
| 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, LMF2, LOC105373100, 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, LOC284933, LOC339685, LOC90834, 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, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:47447433-50806138
| ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, EPIC1, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC00898, LINC01310, LINC01644, LMF2, LOC105373100, 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, LOC126863188, LOC284933, LOC90834, 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, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:48500344-50780581
| ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC01310, LMF2, LOC105373100, LOC108281149, LOC111828509, LOC112695107, LOC112695108, LOC121627956, LOC121853047, LOC121853048, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC284933, LOC90834, 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, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:47705262-50739836
| ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, EPIC1, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC01310, LMF2, LOC105373100, LOC107832855, LOC108281149, LOC111828509, LOC112695107, LOC112695108, LOC121627956, LOC121853047, LOC121853048, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC284933, LOC90834, 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, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:45708330-50737364
| LOC111828508, LOC111828509, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR3201, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853047, LOC121853048, LOC125446257, LOC125446258, LOC125446259, ADM2, ARSA, CDPF1, CELSR1, ALG12, ATXN10, BRD1, LOC112695106, LOC112695107, LOC112695108, LOC114827849, LOC125446260, LOC125446261, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, EPIC1, GRAMD4, GTSE1, GTSE1-DT, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC00898, LINC00899, LINC01310, LINC01644, LINC02939, LMF2, LOC105373100, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108660404, LOC110121397, LOC125446262, LOC126088082, LOC126863167, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC284933, LOC339685, LOC90834, MAPK11, 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, TRABD, TRMU, TTC38, TTLL8, TUBGCP6, TYMP, WNT7B, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:46269281-50740560
| CPT1B, CRELD2, SELENOO, SELENOO-AS1, TRMU, TTC38, TTLL8, ZBED4, TUBGCP6, TYMP, LOC126863175, LOC126863176, LOC126088082, LOC126863168, LOC125446262, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, DENND6B, EPIC1, IL17REL, KLHDC7B, KLHDC7B-DT, LINC00898, LINC01310, LINC01644, LMF2, LOC105373100, GRAMD4, GTSE1, GTSE1-DT, HDAC10, ACR, ADM2, ALG12, ARSA, BRD1, CELSR1, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, LOC107832855, LOC108281149, LOC111828509, LOC112695106, LOC112695107, LOC112695108, LOC114827849, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853047, LOC121853048, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC284933, LOC339685, LOC90834, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MIR3201, MIR3667, MIR3667HG, MIR4535, MIR6821, MLC1, MOV10L1, NCAPH2, NHIP, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SHANK3, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TRABD | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:47513236-50806138
| LOC126863185, LOC126863186, MIR3667HG, MIR4535, LOC126863187, LOC126863188, LOC284933, ADM2, ALG12, ARSA, BRD1, CHKB, CPT1B, CRELD2, DENND6B, ACR, LOC90834, MAPK11, MAPK12, MAPK8IP2, MIR6821, MLC1, MIOX, MIR12114, MIR3201, MIR3667, CHKB-CPT1B, CHKB-DT, CIMAP1B, EPIC1, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC00898, LINC01310, LMF2, LOC105373100, LOC107832855, LOC108281149, LOC111828509, LOC112695106, LOC112695107, LOC112695108, LOC121627956, LOC121853047, LOC121853048, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, MOV10L1, NCAPH2, NHIP, PANX2, PIM3, PLXNB2, PPP6R2, RABL2B, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TAFA5, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr22:43032129-50739836
| LINC01656, LINC02939, LMF2, LOC126863175, LOC126863176, PNPLA3, PNPLA5, PPARA, LOC101927551, LOC105373064, LOC105373100, LOC126863177, LOC107181287, LOC107832855, LOC107985535, LOC126863178, LOC126863179, LOC126863180, PPP6R2, PRR34, RIBC2, RTL6, SAMM50, SCO2, SELENOO, SELENOO-AS1, TBC1D22A, TBC1D22A-AS1, SBF1, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC128772436, LOC128772437, MAPK8IP2, MCAT, LOC126863183, LOC128772438, LOC284933, LOC339685, MAPK11, MAPK12, PRR34-AS1, PRR5, PRR5-ARHGAP8, LOC111828508, LOC111828509, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004363, LOC114004364, LOC114827849, LOC121627951, LOC121627952, LOC121627953, LOC126863181, LOC126863182, LOC121627948, LOC121627949, LOC121627950, LOC108660404, LOC110121397, LOC111556137, LOC108281149, ATXN10, BIK, BRD1, CDPF1, CELSR1, CERK, ACR, ADM2, ALG12, ARHGAP8, ARSA, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, EFCAB6, EFCAB6-AS1, EFCAB6-DT, EPIC1, FAM118A, FBLN1, GRAMD4, GTSE1, GTSE1-DT, HDAC10, IL17REL, KIAA0930, KLHDC7B, KLHDC7B-DT, LINC00207, LINC00229, LINC00898, LINC00899, LINC01310, LINC01589, LINC01639, LINC01644, 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, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, 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, SHANK3, SHISAL1, SMC1B, SULT4A1, SYCE3, TAFA5, TRABD, 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
| LOC121853048, LOC125446259, LOC126863187, LOC126863188, LOC284933, LOC90834, MAPK11, MAPK12, MAPK8IP2, LOC125446260, LOC125446261, LOC125446262, MIOX, MIR12114, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863178, LOC126863179, LOC126863180, ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, CRELD2, DENND6B, EPIC1, HDAC10, IL17REL, KLHDC7B, KLHDC7B-DT, LINC01310, LMF2, LOC105373100, LOC107832855, LOC108281149, LOC111828509, LOC112695107, LOC112695108, LOC121627956, LOC121853047, MIR3201, MIR3667, MIR3667HG, MIR4535, MIR6821, MLC1, MOV10L1, NCAPH2, NHIP, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SELENOO-AS1, SHANK3, SYCE3, TAFA5, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 | | Phelan-McDermid syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr22:51142328
- GRCh38:
- Chr22:50703900
| LOC126863188, SHANK3 | Y626* | Phelan-McDermid syndrome | Uncertain significance
(May 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51160726
- GRCh38:
- Chr22:50722298
| SHANK3 | D1564Y | Phelan-McDermid syndrome | Pathogenic
(Feb 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51159893-51159894
- GRCh38:
- Chr22:50721465-50721466
| SHANK3 | V1287fs | Phelan-McDermid syndrome | Pathogenic
(Nov 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51169426
- GRCh38:
- Chr22:50730998
| SHANK3 | R1703S | Phelan-McDermid syndrome | Pathogenic
(Jan 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr22:51159901-51159902
- GRCh38:
- Chr22:50721473-50721474
| SHANK3 | T1290fs | Phelan-McDermid syndrome | Pathogenic
(Jan 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr22:51159813
- GRCh38:
- Chr22:50721385
| SHANK3 | | Phelan-McDermid syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr22:51169626-51169629
- GRCh38:
- Chr22:50731198-50731201
| SHANK3 | I1769fs | Phelan-McDermid syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr22:51160021
- GRCh38:
- Chr22:50721593
| SHANK3 | P1329S | not provided, Phelan-McDermid syndrome | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:51160186
- GRCh38:
- Chr22:50721758
| SHANK3 | P1384S | Phelan-McDermid syndrome | Uncertain significance
(Mar 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51158917
- GRCh38:
- Chr22:50720489
| SHANK3 | Q961* | Phelan-McDermid syndrome | Uncertain significance
(Jan 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51121801
- GRCh38:
- Chr22:50683373
| SHANK3 | A382S | Phelan-McDermid syndrome | Uncertain significance
(Feb 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51160019-51160020
- GRCh38:
- Chr22:50721591-50721592
| SHANK3 | R1330fs | Phelan-McDermid syndrome | Pathogenic
(Jul 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51160192
- GRCh38:
- Chr22:50721764
| SHANK3 | E1386fs | Phelan-McDermid syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr22:51160636
- GRCh38:
- Chr22:50722208
| SHANK3 | G1534R | not provided, Phelan-McDermid syndrome | Conflicting interpretations of pathogenicity
(Jan 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:51113681
- GRCh38:
- Chr22:50675253
| SHANK3 | | Phelan-McDermid syndrome | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51169297
- GRCh38:
- Chr22:50730869
| SHANK3 | E1660* | Phelan-McDermid syndrome | Pathogenic
(Nov 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:51132804-51144365
| SHANK3 | | Phelan-McDermid syndrome | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |