| - GRCh37:
- ChrX:38268244-38268275
- GRCh38:
- ChrX:38408991-38409022
| OTC | | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Dec 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268003
- GRCh38:
- ChrX:38408750
| OTC | | not provided | Likely benign
(Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38240618
- GRCh38:
- ChrX:38381365
| OTC | P108A | not provided | Uncertain significance
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38280310
- GRCh38:
- ChrX:38421057
| OTC | P347R | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Dec 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38212001
- GRCh38:
- ChrX:38352748
| OTC | H18N | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Oct 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38260686
- GRCh38:
- ChrX:38401433
| OTC | | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38260653
- GRCh38:
- ChrX:38401400
| OTC | Q171R | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Jul 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38260669
- GRCh38:
- ChrX:38401416
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38262851-38263013
| OTC | | Ornithine carbamoyltransferase deficiency | Pathogenic
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:37639262-38212036
| CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5 | | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38128879-38280335
| OTC, RPGR | | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38211793-38212046
| OTC | | Ornithine carbamoyltransferase deficiency | Pathogenic
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38176549-38215080
| OTC, RPGR | | Primary ciliary dyskinesia | Uncertain significance
(Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38128879-38280335
| OTC, RPGR | | Primary ciliary dyskinesia, Ornithine carbamoyltransferase deficiency | Pathogenic
(Oct 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38260670
- GRCh38:
- ChrX:38401417
| OTC | L177F | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268032
- GRCh38:
- ChrX:38408779
| OTC | E234G | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268065
- GRCh38:
- ChrX:38408812
| OTC | | Ornithine carbamoyltransferase deficiency | Benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268273
- GRCh38:
- ChrX:38409020
| OTC | M288V | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38240677
- GRCh38:
- ChrX:38381424
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38240644
- GRCh38:
- ChrX:38381391
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38211981
- GRCh38:
- ChrX:38352728
| OTC | N11S | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38271264
- GRCh38:
- ChrX:38412011
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38267995
- GRCh38:
- ChrX:38408742
| OTC | G222S | Ornithine carbamoyltransferase deficiency | Likely benign
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38267987
- GRCh38:
- ChrX:38408734
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38280309
- GRCh38:
- ChrX:38421056
| OTC | P347S | Ornithine carbamoyltransferase deficiency | Pathogenic
(Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38211953
- GRCh38:
- ChrX:38352700
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(May 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268222
- GRCh38:
- ChrX:38408969
| OTC | E271Q | Ornithine carbamoyltransferase deficiency | Uncertain significance
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38226559
- GRCh38:
- ChrX:38367306
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38226600
- GRCh38:
- ChrX:38367347
| OTC | L45R | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38240599
- GRCh38:
- ChrX:38381346
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268211
- GRCh38:
- ChrX:38408958
| OTC | S267I | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38280304
- GRCh38:
- ChrX:38421051
| OTC | Y345F | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38267986
- GRCh38:
- ChrX:38408733
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38271222
- GRCh38:
- ChrX:38411969
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38262959
- GRCh38:
- ChrX:38403706
| OTC | K210I | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38240646
- GRCh38:
- ChrX:38381393
| OTC | H117P | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38240691
- GRCh38:
- ChrX:38381438
| OTC | | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38240607
- GRCh38:
- ChrX:38381354
| OTC | L104Q | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Feb 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38271222
- GRCh38:
- ChrX:38411969
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38262938
- GRCh38:
- ChrX:38403685
| OTC | I204fs | Ornithine carbamoyltransferase deficiency | Pathogenic
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38211959
- GRCh38:
- ChrX:38352706
| OTC | N4D | Ornithine carbamoyltransferase deficiency | Likely benign
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38260651
- GRCh38:
- ChrX:38401398
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38262952
- GRCh38:
- ChrX:38403699
| OTC | A208S | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38280282
- GRCh38:
- ChrX:38421029
| OTC | M338L | Ornithine carbamoyltransferase deficiency | Likely benign
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38271219
- GRCh38:
- ChrX:38411966
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38262964
- GRCh38:
- ChrX:38403711
| OTC | G212R | Ornithine carbamoyltransferase deficiency | Likely benign
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268020
- GRCh38:
- ChrX:38408767
| OTC | T230N | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38226610
- GRCh38:
- ChrX:38367357
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Dec 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38271176
- GRCh38:
- ChrX:38411923
| OTC | E310V | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38260657
- GRCh38:
- ChrX:38401404
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268214
- GRCh38:
- ChrX:38408961
| OTC | M268K | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268224
- GRCh38:
- ChrX:38408971
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38260672
- GRCh38:
- ChrX:38401419
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38260672
- GRCh38:
- ChrX:38401419
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268042-38268043
- GRCh38:
- ChrX:38408789-38408790
| OTC | E239fs | Ornithine carbamoyltransferase deficiency | Pathogenic
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38262857
- GRCh38:
- ChrX:38403604
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38229061
- GRCh38:
- ChrX:38369808
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38262966
- GRCh38:
- ChrX:38403713
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268221
- GRCh38:
- ChrX:38408968
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268258
- GRCh38:
- ChrX:38409005
| OTC | G283fs | Ornithine carbamoyltransferase deficiency | Pathogenic
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38280290
- GRCh38:
- ChrX:38421037
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38260589
- GRCh38:
- ChrX:38401336
| OTC | T150S | Ornithine carbamoyltransferase deficiency | Likely benign
(Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38240640
- GRCh38:
- ChrX:38381387
| OTC | D115G | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38271162
- GRCh38:
- ChrX:38411909
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38226605
- GRCh38:
- ChrX:38367352
| OTC | N47H | Ornithine carbamoyltransferase deficiency | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38260580
- GRCh38:
- ChrX:38401327
| OTC | D147H | Ornithine carbamoyltransferase deficiency | Uncertain significance
(May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38240672
- GRCh38:
- ChrX:38381419
| OTC | D126N | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38271144
- GRCh38:
- ChrX:38411891
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38226687
- GRCh38:
- ChrX:38367434
| OTC | | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268030
- GRCh38:
- ChrX:38408777
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38260642
- GRCh38:
- ChrX:38401389
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268274
- GRCh38:
- ChrX:38409021
| OTC | M288R | Ornithine carbamoyltransferase deficiency | Benign
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38260589
- GRCh38:
- ChrX:38401336
| OTC | T150A | Ornithine carbamoyltransferase deficiency | Likely benign
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38226554
- GRCh38:
- ChrX:38367301
| OTC | P30S | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Feb 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38260528
- GRCh38:
- ChrX:38401275
| OTC | | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38271237
- GRCh38:
- ChrX:38411984
| OTC | | Ornithine carbamoyltransferase deficiency | Likely benign
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38262958
- GRCh38:
- ChrX:38403705
| OTC | K210E | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Dec 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:37722819-38713056
| H2AP, MID1IP1, OTC, RPGR, SRPX, SYTL5, TSPAN7 | | not provided | Uncertain significance
(Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38262993
- GRCh38:
- ChrX:38403740
| OTC | K221N | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Nov 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38226676
- GRCh38:
- ChrX:38367423
| OTC | | Inborn genetic diseases | Likely benign
(Dec 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38226645
- GRCh38:
- ChrX:38367392
| OTC | S60* | Inborn genetic diseases | Pathogenic
(Nov 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38262986
- GRCh38:
- ChrX:38403733
| OTC | T219N | Inborn genetic diseases, Ornithine carbamoyltransferase deficiency | Uncertain significance
(Jun 24, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:38211999-38212002
- GRCh38:
- ChrX:38352746-38352749
| OTC | G17fs | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268225
- GRCh38:
- ChrX:38408972
| OTC | E272* | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38226674
- GRCh38:
- ChrX:38367421
| OTC | K70* | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Dec 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38229094
- GRCh38:
- ChrX:38369841
| OTC | K88* | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38229091-38229092
- GRCh38:
- ChrX:38369838-38369839
| OTC | R89fs | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38268237
- GRCh38:
- ChrX:38408984
| OTC | K276* | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38226645
- GRCh38:
- ChrX:38367392
| OTC | S60* | Ornithine carbamoyltransferase deficiency | Likely pathogenic
(Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38226591-38226592
- GRCh38:
- ChrX:38367338-38367339
| OTC | L42H | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38262992
- GRCh38:
- ChrX:38403739
| OTC | K221R | not provided | Uncertain significance
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38271209
- GRCh38:
- ChrX:38411956
| OTC | S321L | Hypoammonemia | Likely pathogenic
(Dec 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38226591
- GRCh38:
- ChrX:38367338
| OTC | L42H | Ornithine carbamoyltransferase deficiency | Uncertain significance
(Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:11522765-155233731
| MIR224, MIR424, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MOSPD2, MPC1L, MPP1, MSL3, MSN, MTCP1, MTM1, MTMR1, MTMR8, MTRNR2L10, NAA10, NALF2, NAP1L2, NAP1L3, NDP, NDUFA1, NDUFB11, NEXMIF, NHS, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OFD1, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PCSK1N, PCYT1B, PDHA1, PDK3, PDZD11, PDZD4, PFKFB1, PGAM4, PGK1, PGRMC1, PHEX, PHF6, PHF8, PHKA1, PHKA2, PIGA, PIM2, PIN4, PIR, PJA1, PLAC1, PLP1, PLP2, PLS3, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, POF1B, POLA1, PORCN, POU3F4, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRPS1, PRPS2, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PWWP3B, RAB33A, RAB39B, RAB40A, RAB40AL, RAB41, RAB9A, RAB9B, RADX, RAI2, RAP2C, RBBP7, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RENBP, REPS2, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPA4, RPGR, RPL10, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RTL4, RPS6KA3, RPS6KA6, RRAGB, RS1, RTL3, RTL5, RTL8A, RTL8B, RTL8C, RTL9, S100G, SAGE1, SASH3, SAT1, SATL1, SCML1, SCML2, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SH3KBP1, SHROOM4, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLC9A7, SLITRK2, SLITRK4, SMARCA1, SMC1A, SMIM10, SMIM9, SMPX, SMS, SNORA11, SNX12, SOWAHD, SOX3, SPACA5, SPACA5B, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STARD8, STEEP1, STK26, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL4, SYTL5, TAB3, TAF1, TAF7L, TAF9B, TAFAZZIN, TASL, TBC1D25, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCEANC, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TKTL1, TLR7, TLR8, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMEM47, TMLHE, TMSB15A, TMSB15B, TMSB4X, TNMD, TRAPPC2, TREX2, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UBE2A, UBE2NL, UBL4A, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VBP1, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WDR13, WDR44, WDR45, WNK3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZFX, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, ZNF185, ZNF275, ZNF280C, ZNF41, ZNF449, ZNF630, ZNF674, ZNF711, ZNF75D, ZNF81, ZRSR2, ZXDA, ZXDB, ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMER1, AMMECR1, AMOT, AP1S2, APEX2, APLN, APOO, APOOL, AR, ARAF, ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX3-AS1, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ARX, ASB11, ASB12, ASB9, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP1, ATP6AP2, ATP7A, ATRX, ATXN3L, AVPR2, AWAT1, AWAT2, BCAP31, BCLAF3, BCOR, BCORL1, BEND2, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BMP15, BMX, BRCC3, BRS3, BRWD3, BTK, C1GALT1C1, CA5B, CACNA1F, CAPN6, CASK, CBLL2, CCDC120, CCDC160, CCDC22, CCNB3, CCNQ, CD40LG, CD99L2, CDK16, CDKL5, CDR1, CDX4, CENPI, CETN2, CFAP47, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN5, CLDN2, CLIC2, CLTRN, CMC4, CNGA2, CNKSR2, COL4A5, COL4A6, COX7B, CPXCR1, CSAG1, CSAG3, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CTAG1A, CTAG1B, CTAG2, CTPS2, CUL4B, CXCR3, CXorf22, CXorf30, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DIAPH2, DIPK2B, DKC1, DLG3, DMD, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EGFL6, EIF1AX, EIF2S3, ELF4, ELK1, EMD, ENOX2, EOLA1, EOLA2, ERAS, ERCC6L, ESX1, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM104B, FAM120C, FAM133A, FAM156A, FAM156B, FAM199X, FAM3A, FAM47A, FAM47B, FAM47C, FAM50A, FAM9C, FANCB, FATE1, FGD1, FGF13, FGF16, FHL1, FLNA, FMR1, FMR1-AS1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FRMPD4, FTHL17, FTSJ1, FTX, FUNDC1, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDI1, GDPD2, GEMIN8, GJB1, GK, GLA, GLOD5, GLRA2, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPM6B, GPR101, GPR119, GPR173, GPR174, GPR34, GPR50, GPR50-AS1, GPR82, GPRASP1, GPRASP2, GPRASP3, GRIA3, GRIPAP1, GRPR, GSPT2, GUCY2F, H2AB1, H2AB2, H2AB3, H2AP, H2BW1, H2BW2, HAUS7, HCFC1, HDAC6, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HTATSF1, HTR2C, HUWE1, IDH3G, IDS, IGBP1, IGSF1, IKBKG, IL13RA1, IL13RA2, IL1RAPL1, IL1RAPL2, IL2RG, INE1, INE2, INTS6L, IQSEC2, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL15, KLHL34, KLHL4, KRBOX4, L1CAM, LAGE3, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC01560, LOC100509091, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAMLD1, MAOA, MAOB, MAP3K15, MAP7D2, MAP7D3, MBNL3, MBTPS2, MCF2, MCTS1, MECP2, MED12, MED14, MID1IP1, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223 | | See cases | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:61545-155226048
| CT55, CT83, CTAG1A, CTAG1B, CTAG2, CTPS2, CUL4B, CXCR3, CXorf22, CXorf30, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DIAPH2, DIPK2B, DKC1, DLG3, DMD, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EGFL6, EIF1AX, EIF2S3, ELF4, ELK1, EMD, ENOX2, EOLA1, EOLA2, ERAS, ERCC6L, ESX1, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM104B, FAM120C, FAM133A, FAM156A, FAM156B, FAM199X, FAM3A, FAM47A, FAM47B, FAM47C, FAM50A, FAM9A, FAM9B, FAM9C, FANCB, FATE1, FGD1, FGF13, FGF16, FHL1, FLNA, FMR1, FMR1-AS1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FRMPD4, FTHL17, FTSJ1, FTX, FUNDC1, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDI1, GDPD2, GEMIN8, GJB1, GK, GLA, GLOD5, GLRA2, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPM6B, GPR101, GPR119, GPR143, GPR173, GPR174, GPR34, GPR50, GPR50-AS1, GPR82, GPRASP1, GPRASP2, GPRASP3, GRIA3, GRIPAP1, GRPR, GSPT2, GUCY2F, GYG2, H2AB1, H2AB2, H2AB3, H2AP, H2BW1, H2BW2, HAUS7, HCCS, HCFC1, HDAC6, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HTATSF1, HTR2C, HUWE1, IDH3G, IDS, IGBP1, IGSF1, IKBKG, IL13RA1, IL13RA2, IL1RAPL1, IL1RAPL2, IL2RG, INE1, INE2, INTS6L, IQSEC2, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL15, KLHL34, KLHL4, KRBOX4, L1CAM, LAGE3, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC01560, LOC100509091, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAMLD1, MAOA, MAOB, MAP3K15, MAP7D2, MAP7D3, MBNL3, MBTPS2, MCF2, MCTS1, MECP2, MED12, MED14, MID1, MID1IP1, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR424, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MOSPD2, MPC1L, MPP1, MSL3, MSN, MTCP1, MTM1, MTMR1, MTMR8, MTRNR2L10, MXRA5, NAA10, NALF2, NAP1L2, NAP1L3, NDP, NDUFA1, NDUFB11, NEXMIF, NHS, NHSL2, NKAP, NKRF, NLGN3, NLGN4X, NONO, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OFD1, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PCSK1N, PCYT1B, PDHA1, PDK3, PDZD11, PDZD4, PFKFB1, PGAM4, PGK1, PGRMC1, PHEX, PHF6, PHF8, PHKA1, PHKA2, PIGA, PIM2, PIN4, PIR, PJA1, PLAC1, PLP1, PLP2, PLS3, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PNPLA4, POF1B, POLA1, PORCN, POU3F4, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS1, PRPS2, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PUDP, PWWP3B, RAB33A, RAB39B, RAB40A, RAB40AL, RAB41, RAB9A, RAB9B, RADX, RAI2, RAP2C, RBBP7, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RENBP, REPS2, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPA4, RPGR, RPL10, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RTL4, RPS6KA3, RPS6KA6, RRAGB, RS1, RTL3, RTL5, RTL8A, RTL8B, RTL8C, RTL9, S100G, SAGE1, SASH3, SAT1, SATL1, SCML1, SCML2, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SH3KBP1, SHROOM2, SHROOM4, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLC9A7, SLITRK2, SLITRK4, SMARCA1, SMC1A, SMIM10, SMIM9, SMPX, SMS, SNORA11, SNX12, SOWAHD, SOX3, SPACA5, SPACA5B, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STARD8, STEEP1, STK26, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL4, SYTL5, TAB3, TAF1, TAF7L, TAF9B, TAFAZZIN, TASL, TBC1D25, TBC1D8B, TBL1X, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCEANC, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TKTL1, TLR7, TLR8, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMEM47, TMLHE, TMSB15A, TMSB15B, TMSB4X, TNMD, TRAPPC2, TREX2, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UBE2A, UBE2NL, UBL4A, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VBP1, VCX, VCX2, VCX3A, VCX3B, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WDR13, WDR44, WDR45, WNK3, WWC3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZFX, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, ZNF185, ZNF275, ZNF280C, ZNF41, ZNF449, ZNF630, ZNF674, ZNF711, ZNF75D, ZNF81, ZRSR2, ZXDA, ZXDB, ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMELX, AMER1, AMMECR1, AMOT, ANOS1, AP1S2, APEX2, APLN, APOO, APOOL, AR, ARAF, ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX3-AS1, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ARSD, ARSD-AS1, ARSF, ARSH, ARSL, ARX, ASB11, ASB12, ASB9, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP1, ATP6AP2, ATP7A, ATRX, ATXN3L, AVPR2, AWAT1, AWAT2, BCAP31, BCLAF3, BCOR, BCORL1, BEND2, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BMP15, BMX, BRCC3, BRS3, BRWD3, BTK, C1GALT1C1, CA5B, CACNA1F, CAPN6, CASK, CBLL2, CCDC120, CCDC160, CCDC22, CCNB3, CCNQ, CD40LG, CD99L2, CDK16, CDKL5, CDR1, CDX4, CENPI, CETN2, CFAP47, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN4, CLCN5, CLDN2, CLIC2, CLTRN, CMC4, CNGA2, CNKSR2, COL4A5, COL4A6, COX7B, CPXCR1, CSAG1, CSAG3, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1 | | Klinefelter syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:168546-57841304
| ACE2, ACOT9, ADGRG2, AKAP4, ALAS2, AMELX, ANOS1, BCLAF3, AP1S2, APEX2, APOO, ARAF, ARHGAP6, ARSD, ARSD-AS1, ARSF, ARSH, ARSL, ARX, ASB11, ASB9, ATP6AP2, ATXN3L, BCOR, BEND2, BMP15, BMX, CA5B, CACNA1F, CASK, CBLL2, CCDC120, CCDC22, CCNB3, CDK16, CDKL5, CFAP47, CFP, CHST7, CLCN4, CLCN5, CLTRN, CNKSR2, CTPS2, CXorf22, CXorf30, CXorf38, CXorf58, CYBB, DCAF8L1, DCAF8L2, DDX3X, DDX53, DGKK, DIPK2B, DMD, DUSP21, DYNLT3, EBP, EFHC2, EGFL6, EIF1AX, EIF2S3, ELK1, ERAS, FAAH2, FAM104B, FAM120C, FAM156A, FAM156B, FAM47A, FAM47B, FAM47C, FAM9A, FAM9B, FAM9C, FANCB, FGD1, FOXP3, FOXR2, FRMPD4, FTHL17, FTSJ1, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GEMIN8, GK, GLOD5, GLRA2, GNL3L, GPKOW, GPM6B, GPR143, GPR173, GPR34, GPR82, GRIPAP1, GRPR, GSPT2, GYG2, H2AP, HCCS, HDAC6, LANCL3, HSD17B10, HUWE1, IL1RAPL1, INE1, INE2, IQSEC2, ITIH6, JADE3, KCND1, KDM5C, KDM6A, KLF8, KLHL15, KLHL34, KRBOX4, LINC01560, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEH1, MAGIX, MAOA, MAOB, MAP3K15, MAP7D2, MBTPS2, MED14, MID1, MID1IP1, MIR221, MIR222, MIR502, MIR532, MIR98, MIRLET7F2, MOSPD2, MPC1L, MSL3, MTRNR2L10, MXRA5, NDP, NDUFB11, NHS, NLGN4X, NR0B1, NUDT10, NUDT11, NYX, OFD1, OTC, OTUD5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PCSK1N, PCYT1B, PDHA1, PDK3, PFKFB1, PHEX, PHF8, PHKA2, PIGA, PIM2, PIR, PLP2, PNPLA4, POLA1, PORCN, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS2, PRRG1, PTCHD1, PUDP, RAB9A, RAI2, RBBP7, RBM10, RBM3, REPS2, RGN, RIBC1, RP2, RPGR, RPS6KA3, RRAGB, RS1, S100G, SAT1, SCML1, SCML2, SH3KBP1, SHROOM2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SMC1A, SMPX, SMS, SNORA11, SPACA5, SPACA5B, SPANXN5, SPIN2A, SPIN2B, SPIN3, SRPX, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL5, TAB3, TASL, TBC1D25, TBL1X, TCEANC, TFE3, TIMM17B, TIMP1, TLR7, TLR8, TMEM47, TMSB4X, TRAPPC2, TRO, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UBQLN2, USP11, USP27X, USP51, USP9X, UXT, VCX, VCX2, VCX3A, VCX3B, VEGFD, WAS, WDR13, WDR45, WNK3, WWC3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XK, YY2, ZFX, ZNF157, ZNF182, ZNF41, ZNF630, ZNF674, ZNF81, ZRSR2, ZXDB | | Turner syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:590376-56315041
| ADGRG2, ACE2, ACOT9, AKAP4, ALAS2, AMELX, ANOS1, AP1S2, APEX2, APOO, ARAF, ARHGAP6, ARSD, ARSD-AS1, ARSF, ARSH, ARSL, ARX, ASB11, ASB9, ATP6AP2, ATXN3L, BCLAF3, BCOR, BEND2, BMP15, BMX, CA5B, CACNA1F, CASK, CBLL2, CCDC120, CCDC22, CCNB3, CDK16, CDKL5, CFAP47, CFP, CHST7, CLCN4, CLCN5, CLTRN, CNKSR2, CTPS2, CXorf22, CXorf30, CXorf38, CXorf58, CYBB, DCAF8L1, DCAF8L2, DDX3X, DDX53, DGKK, DIPK2B, DMD, DUSP21, DYNLT3, EBP, EFHC2, EGFL6, EIF1AX, EIF2S3, ELK1, ERAS, FAM104B, FAM120C, FAM156A, FAM156B, FAM47A, FAM47B, FAM47C, FAM9A, FAM9B, FAM9C, FANCB, FGD1, FOXP3, FOXR2, FRMPD4, FTHL17, FTSJ1, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GEMIN8, GK, GLOD5, GLRA2, GNL3L, GPKOW, GPM6B, GPR143, GPR173, GPR34, GPR82, GRIPAP1, GRPR, GSPT2, GYG2, H2AP, HCCS, HDAC6, HSD17B10, HUWE1, IL1RAPL1, INE1, INE2, IQSEC2, ITIH6, JADE3, KCND1, KDM5C, KDM6A, KLF8, KLHL15, KLHL34, KRBOX4, LANCL3, LINC01560, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEH1, MAGIX, MAOA, MAOB, MAP3K15, MAP7D2, MBTPS2, MED14, MID1, MID1IP1, MIR221, MIR222, MIR502, MIR532, MIR98, MIRLET7F2, MOSPD2, MPC1L, MSL3, MTRNR2L10, MXRA5, NDP, NDUFB11, NHS, NLGN4X, NR0B1, NUDT10, NUDT11, NYX, OFD1, OTC, OTUD5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PCSK1N, PCYT1B, PDHA1, PDK3, PFKFB1, PHEX, PHF8, PHKA2, PIGA, PIM2, PIR, PLP2, PNPLA4, POLA1, PORCN, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS2, PRRG1, PTCHD1, PUDP, RAB9A, RAI2, RBBP7, RBM10, RBM3, REPS2, RGN, RIBC1, RP2, RPGR, RPS6KA3, RRAGB, RS1, S100G, SAT1, SCML1, SCML2, SH3KBP1, SHROOM2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SMC1A, SMPX, SMS, SNORA11, SPACA5, SPACA5B, SPANXN5, SRPX, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, TCEANC, SYP, SYTL5, TAB3, TASL, TBC1D25, TBL1X, TFE3, TIMM17B, TIMP1, TLR7, TLR8, TMEM47, TMSB4X, TRAPPC2, TRO, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, USP11, USP27X, USP51, USP9X, UXT, VCX, VCX2, VCX3A, VCX3B, VEGFD, WAS, WDR13, WDR45, WNK3, WWC3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XK, YY2, ZFX, ZNF157, ZNF182, ZNF41, ZNF630, ZNF674, ZNF81, ZRSR2 | | Turner syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:168546-52573789
| ACE2, ACOT9, ADGRG2, AKAP4, AMELX, ANOS1, AP1S2, APOO, ARAF, ARHGAP6, ARSD, ARSD-AS1, ARSF, ARSH, ARSL, ARX, ASB11, ASB9, ATP6AP2, ATXN3L, BCLAF3, BCOR, BEND2, BMP15, BMX, CA5B, CACNA1F, CASK, CBLL2, CCDC120, CCDC22, CCNB3, CDK16, CDKL5, CFAP47, CFP, CHST7, CLCN4, CLCN5, CLTRN, CNKSR2, CTPS2, CXorf22, CXorf30, CXorf38, CXorf58, CYBB, DCAF8L1, DCAF8L2, DDX3X, DDX53, DGKK, DIPK2B, DMD, DUSP21, DYNLT3, EBP, EFHC2, EGFL6, EIF1AX, EIF2S3, ELK1, ERAS, FAM47A, FAM47B, FAM47C, FAM9A, FAM9B, FAM9C, FANCB, FOXP3, FRMPD4, FTHL17, FTSJ1, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GEMIN8, GK, GLOD5, GLRA2, GPKOW, GPM6B, GPR143, GPR34, GPR82, GRIPAP1, GRPR, GSPT2, GYG2, H2AP, HCCS, HDAC6, IL1RAPL1, INE1, INE2, JADE3, KCND1, KDM6A, KLHL15, KLHL34, KRBOX4, LANCL3, LINC01560, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGED1, MAGED4, MAGED4B, MAGIX, MAOA, MAOB, MAP3K15, MAP7D2, MBTPS2, MED14, MID1, MID1IP1, MIR221, MIR222, MIR502, MIR532, MOSPD2, MPC1L, MSL3, MXRA5, NDP, NDUFB11, NHS, NLGN4X, NR0B1, NUDT10, NUDT11, NYX, OFD1, OTC, OTUD5, PAGE1, PAGE4, PCSK1N, PCYT1B, PDHA1, PDK3, PHEX, PHKA2, PIGA, PIM2, PIR, PLP2, PNPLA4, POLA1, PORCN, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS2, PRRG1, PTCHD1, PUDP, RAB9A, RAI2, RBBP7, RBM10, RBM3, REPS2, RGN, RP2, RPGR, RPS6KA3, RS1, S100G, SAT1, SCML1, SCML2, SH3KBP1, SHROOM2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SMPX, SMS, SPACA5, SPACA5B, SRPX, SSX1, SSX3, SSX4, SSX4B, SSX5, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL5, TAB3, TASL, TBC1D25, TBL1X, TCEANC, TFE3, TIMM17B, TIMP1, TLR7, TLR8, TMEM47, TMSB4X, TRAPPC2, TSPAN7, TXLNG, UBA1, USP11, USP27X, USP9X, UXT, VCX, VCX2, VCX3A, VCX3B, VEGFD, WAS, WDR13, WDR45, WWC3, XAGE1A, XAGE1B, XAGE2, XG, XK, YY2, ZFX, ZNF157, ZNF182, ZNF41, ZNF630, ZNF674, ZNF81, ZRSR2 | | Turner syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:1-155270560
| ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMELX, AMER1, AMMECR1, AMOT, ANOS1, ARMCX3, AP1S2, APEX2, APLN, APOO, APOOL, AR, ARAF, ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3-AS1, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ARSD, ARSD-AS1, ARSF, ARSH, ARSL, ARX, ASB11, ASB12, ASB9, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP1, ATP6AP2, ATP7A, ATRX, ATXN3L, AVPR2, AWAT1, AWAT2, BCAP31, BCLAF3, BCOR, BCORL1, BEND2, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BMP15, BMX, BRCC3, BRS3, BRWD3, BTK, C1GALT1C1, CA5B, CACNA1F, CAPN6, CASK, CBLL2, CCDC120, CCDC160, CCDC22, CCNB3, CCNQ, CD40LG, CD99L2, CDK16, CDKL5, CDR1, CDX4, CENPI, CETN2, CFAP47, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN4, CLCN5, CLDN2, CLIC2, CLTRN, CMC4, CNGA2, CNKSR2, COL4A5, COL4A6, COX7B, CPXCR1, CSAG1, CSAG3, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CTAG1A, CTAG1B, CTAG2, CTPS2, CUL4B, CXCR3, CXorf22, CXorf30, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DIAPH2, DIPK2B, DKC1, DLG3, DMD, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EGFL6, EIF1AX, EIF2S3, ELF4, ELK1, EMD, ENOX2, EOLA1, EOLA2, ERAS, ERCC6L, ESX1, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM104B, FAM120C, FAM133A, FAM156A, FAM156B, FAM199X, FAM3A, FAM47A, FAM47B, FAM47C, FAM50A, FAM9A, FAM9B, FAM9C, FANCB, FATE1, FGD1, FGF13, FGF16, FHL1, FLNA, FMR1, FMR1-AS1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FRMPD4, FTHL17, FTSJ1, FTX, FUNDC1, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, ZNF182, ZNF185, ZNF275, ZNF280C, ZNF41, ZNF449, ZNF630, ZNF674, ZNF711, ZNF75D, ZNF81, ZRSR2, ZXDA, ZXDB, GDI1, GDPD2, GEMIN8, GJB1, GK, GLA, GLOD5, GLRA2, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPM6B, GPR101, GPR119, GPR143, GPR173, GPR174, GPR34, GPR50, GPR50-AS1, GPR82, GPRASP1, GPRASP2, GPRASP3, GRIA3, GRIPAP1, GRPR, GSPT2, GUCY2F, GYG2, H2AB1, H2AB2, H2AB3, H2AP, H2BW1, H2BW2, HAUS7, HCCS, HCFC1, HDAC6, HTATSF1, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HTR2C, HUWE1, IDH3G, IDS, IGBP1, IGSF1, IKBKG, IL13RA1, IL13RA2, IL1RAPL1, IL1RAPL2, IL2RG, INE1, INE2, INTS6L, IQSEC2, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL15, KLHL34, KLHL4, KRBOX4, L1CAM, LAGE3, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC01560, LOC100509091, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAMLD1, MAOA, MAOB, MAP3K15, MAP7D2, MAP7D3, MBNL3, MBTPS2, MCF2, MCTS1, MECP2, MED12, MED14, MID1, MID1IP1, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR424, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MOSPD2, MPC1L, MPP1, MSL3, MSN, MTCP1, MTM1, MTMR1, MTMR8, MTRNR2L10, MXRA5, NAA10, NALF2, NAP1L2, NAP1L3, NDP, NDUFA1, NDUFB11, NEXMIF, NHS, NHSL2, NKAP, NKRF, NLGN3, NLGN4X, NONO, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OFD1, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PCSK1N, PCYT1B, PDHA1, PDK3, PDZD11, PDZD4, PFKFB1, PGAM4, PGK1, PGRMC1, PHEX, PHF6, PHF8, PHKA1, PHKA2, PIGA, PIM2, PIN4, PIR, PJA1, PLAC1, PLP1, PLP2, PLS3, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PNPLA4, POF1B, POLA1, PORCN, POU3F4, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS1, PRPS2, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PUDP, PWWP3B, RAB33A, RAB39B, RAB40A, RAB40AL, RAB41, RAB9A, RAB9B, RADX, RAI2, RAP2C, RBBP7, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RENBP, REPS2, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPA4, RPGR, RPL10, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RTL4, RPS6KA3, RPS6KA6, RRAGB, RS1, RTL3, RTL5, RTL8A, RTL8B, RTL8C, RTL9, S100G, SAGE1, SASH3, SAT1, SATL1, SCML1, SCML2, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SH3KBP1, SHROOM2, SHROOM4, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLC9A7, SLITRK2, SLITRK4, SMARCA1, SMC1A, SMIM10, SMIM9, SMPX, SMS, SNORA11, SNX12, SOWAHD, SOX3, SPACA5, SPACA5B, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STARD8, STEEP1, STK26, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL4, SYTL5, TAB3, TAF1, TAF7L, TAF9B, TAFAZZIN, TASL, TBC1D25, TBC1D8B, TBL1X, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCEANC, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TKTL1, TLR7, TLR8, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMEM47, TMLHE, TMSB15A, TMSB15B, TMSB4X, TNMD, TRAPPC2, TREX2, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UBE2A, UBE2NL, UBL4A, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VBP1, VCX, VCX2, VCX3A, VCX3B, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WASIR1, WDR13, WDR44, WDR45, WNK3, WWC3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZFX, ZIC3, ZMAT1, ZMYM3, ZNF157 | | Turner syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:1-155270560
| SCML2, SEPTIN6, SERPINA7, SLC10A3, SNORA11, SNX12, SOWAHD, SHROOM2, SHROOM4, SH2D1A, SH3BGRL, SH3KBP1, PRDX4, PRICKLE3, PRKX, PRPS1, PRPS2, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PUDP, PWWP3B, RAB33A, RAB39B, RAB40A, RAB40AL, RAB41, RAB9A, RAB9B, RADX, RAI2, RAP2C, RBBP7, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RENBP, REPS2, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPA4, RPGR, RPL10, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA3, RPS6KA6, RRAGB, RS1, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, S100G, SAGE1, SASH3, SAT1, SATL1, SCML1, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLC9A7, SLITRK2, SLITRK4, SMARCA1, SMC1A, SMIM10, SMIM9, SMPX, SMS, SOX3, SPACA5, SPACA5B, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STARD8, STEEP1, STK26, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL4, SYTL5, TAB3, TAF1, TAF7L, TAF9B, TAFAZZIN, TASL, TBC1D25, TBC1D8B, TBL1X, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCEANC, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TKTL1, TLR7, TLR8, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMEM47, TMLHE, TMSB15A, TMSB15B, TMSB4X, TNMD, TRAPPC2, TREX2, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UBE2A, UBE2NL, UBL4A, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VBP1, VCX, VCX2, VCX3A, VCX3B, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WASIR1, WDR13, WDR44, WDR45, WNK3, WWC3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZFX, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, ZNF185, ZNF275, ZNF280C, ZNF41, ZNF449, ZNF630, ZNF674, ZNF711, ZNF75D, ZNF81, ZRSR2, ZXDA, ZXDB, ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMELX, AMER1, AMMECR1, AMOT, ANOS1, AP1S2, APEX2, APLN, APOO, APOOL, AR, ARAF, ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX3-AS1, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ARSD, ARSD-AS1, ARSF, ARSH, ARSL, ARX, ASB11, ASB12, ASB9, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP1, ATP6AP2, ATP7A, ATRX, ATXN3L, AVPR2, AWAT1, AWAT2, BCAP31, BCLAF3, BCOR, BCORL1, BEND2, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BMP15, BMX, BRCC3, BRS3, BRWD3, BTK, C1GALT1C1, CA5B, CACNA1F, CAPN6, CASK, CBLL2, CCDC120, CCDC160, CCDC22, CCNB3, CCNQ, CD40LG, CD99L2, CDK16, CDKL5, CDR1, CDX4, CENPI, CETN2, CFAP47, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN4, CLCN5, CLDN2, CLIC2, CLTRN, CMC4, CNGA2, CNKSR2, COL4A5, COL4A6, COX7B, CPXCR1, CSAG1, CSAG3, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CTAG1A, CTAG1B, CTAG2, CTPS2, CUL4B, CXCR3, CXorf22, CXorf30, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DIAPH2, DIPK2B, DKC1, DLG3, DMD, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EGFL6, EIF1AX, EIF2S3, ELF4, ELK1, EMD, ENOX2, EOLA1, EOLA2, ERAS, ERCC6L, ESX1, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM104B, FAM120C, FAM133A, FAM156A, FAM156B, FAM199X, FAM3A, FAM47A, FAM47B, FAM47C, FAM50A, FAM9A, FAM9B, FAM9C, FANCB, FATE1, FGD1, FGF13, FGF16, FHL1, FLNA, FMR1, FMR1-AS1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FRMPD4, FTHL17, FTSJ1, FTX, FUNDC1, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDI1, GDPD2, GEMIN8, GJB1, GK, GLA, GLOD5, GLRA2, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPM6B, GPR101, GPR119, GPR143, GPR173, GPR174, GPR34, GPR50, GPR50-AS1, GPR82, GPRASP1, GPRASP2, GPRASP3, GRIA3, GRIPAP1, GRPR, GSPT2, GUCY2F, GYG2, H2AB1, H2AB2, H2AB3, H2AP, H2BW1, H2BW2, HAUS7, HCCS, HCFC1, HDAC6, HTATSF1, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HTR2C, HUWE1, IDH3G, IDS, IGBP1, IGSF1, IKBKG, IL13RA1, IL13RA2, IL1RAPL1, IL1RAPL2, IL2RG, INE1, INE2, INTS6L, IQSEC2, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL15, KLHL34, KLHL4, KRBOX4, L1CAM, LAGE3, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC01560, LOC100509091, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAMLD1, MAOA, MAOB, MAP3K15, MAP7D2, MAP7D3, MBNL3, MBTPS2, MCF2, MCTS1, MECP2, MED12, MED14, MID1, MID1IP1, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR424, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MOSPD2, MPC1L, MPP1, MSL3, MSN, MTCP1, MTM1, MTMR1, MTMR8, MTRNR2L10, MXRA5, NAA10, NALF2, NAP1L2, NAP1L3, NDP, NDUFA1, NDUFB11, NEXMIF, NHS, NHSL2, NKAP, NKRF, NLGN3, NLGN4X, NONO, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OFD1, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PCSK1N, PCYT1B, PDHA1, PDK3, PDZD11, PDZD4, PFKFB1, PGAM4, PGK1, PGRMC1, PHEX, PHF6, PHF8, PHKA1, PHKA2, PIGA, PIM2, PIN4, PIR, PJA1, PLAC1, PLP1, PLP2, PLS3, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PNPLA4, POF1B, POLA1, PORCN, POU3F4, PPEF1, PPP1R3F, PQBP1, PRAF2 | | Hypotonia, 46,XX sex reversal 1, Trisomy X syndrome
| Pathogenic | no assertion criteria provided |