| - GRCh37:
- Chr2:137694928-147439378
- GRCh38:
- Chr2:136937358-146681810
| ARHGAP15, ARHGAP15-AS1, GTDC1, HNMT, KYNU, LINC01412, LINC01832, LINC01853, LINC01966, LINC02631, LINC02993, LOC101928273, LOC101928386, LOC107228318, LOC110120671, LOC110120706, LOC110120715, LOC110120731, LOC110120740, LOC110121209, LOC111556162, LOC111721705, LOC112806051, LOC121725104, LOC122819161, LOC122819162, LOC122819163, LOC122819164, LOC126806355, LOC126806356, LOC126806357, LOC126806358, LOC126806359, LOC126806360, LOC126806361, LOC126806362, LOC126806363, LOC126806364, LRP1B, MIR7157, NXPH2, SPOPL, SPOPL-DT, TEX41, THSD7B, ZEB2, ZEB2-AS1 | | See cases | Pathogenic
(May 12, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:140944090-147285812
- GRCh38:
- Chr2:140186521-146528244
| ARHGAP15, ARHGAP15-AS1, GTDC1, KYNU, LINC01412, LINC01966, LINC02993, LOC101928386, LOC107228318, LOC110120671, LOC110120706, LOC110120715, LOC110120731, LOC110120740, LOC110121209, LOC111556162, LOC111721705, LOC112806051, LOC122819163, LOC126806358, LOC126806359, LOC126806360, LOC126806361, LOC126806362, LOC126806363, LRP1B, MIR7157, TEX41, ZEB2, ZEB2-AS1 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:141416766-143705665
- GRCh38:
- Chr2:140659197-142948096
| KYNU, LOC111556162, LOC126806358, LOC126806359, LOC126806360, LOC126806361, LRP1B | | See cases | Uncertain significance
(Sep 12, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:142424106-148603231
- GRCh38:
- Chr2:141666537-147845662
| ACVR2A, ARHGAP15, ARHGAP15-AS1, GTDC1, KYNU, LINC01412, LINC01911, LINC01966, LINC02993, LOC101928386, LOC107228318, LOC110120671, LOC110120706, LOC110120715, LOC110120731, LOC110120740, LOC110121209, LOC111556162, LOC111721705, LOC112806051, LOC122819163, LOC122819164, LOC126806360, LOC126806361, LOC126806362, LOC126806363, LOC126806364, LOC126806365, LRP1B, TEX41, ZEB2, ZEB2-AS1 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:142955558-143966218
- GRCh38:
- Chr2:142197989-143208649
| ARHGAP15, KYNU, LOC111556162, LOC126806361 | | See cases | Likely benign
(Jul 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr2:143634577-143719262
- GRCh38:
- Chr2:142877008-142961693
| KYNU, LOC126806361 | | Catel-Manzke syndrome | Pathogenic
(Jan 7, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143642996
- GRCh38:
- Chr2:142885427
| KYNU | | not provided | Likely benign
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143643010
- GRCh38:
- Chr2:142885441
| KYNU | T25M | not provided | Benign
(Sep 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143643057
- GRCh38:
- Chr2:142885488
| KYNU | H41Y | not provided | Likely benign
(Oct 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143643059
- GRCh38:
- Chr2:142885490
| KYNU | | not provided | Benign
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143643063
- GRCh38:
- Chr2:142885494
| KYNU | R43G | Inborn genetic diseases | Uncertain significance
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143643078
- GRCh38:
- Chr2:142885509
| KYNU | I48F | Inborn genetic diseases | Uncertain significance
(Jan 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143676177
- GRCh38:
- Chr2:142918608
| KYNU | | Congenital NAD deficiency disorder | Pathogenic
(Dec 23, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143676203
- GRCh38:
- Chr2:142918634
| KYNU | | not provided | Likely benign
(Jul 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143676263-143676264
- GRCh38:
- Chr2:142918694-142918695
| KYNU | Y86fs | not provided | Pathogenic
(Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143685221
- GRCh38:
- Chr2:142927652
| KYNU | | not provided | Likely benign
(Dec 20, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143685240
- GRCh38:
- Chr2:142927671
| KYNU | | not provided | Likely benign
(Nov 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143685263
- GRCh38:
- Chr2:142927694
| KYNU | W109S | Catel-Manzke syndrome | Pathogenic
(Jan 7, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143685297-143685299
- GRCh38:
- Chr2:142927728-142927730
| KYNU | K121del | Congenital NAD deficiency disorder | Likely pathogenic
(Nov 11, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr2:143712377
- GRCh38:
- Chr2:142954808
| KYNU | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr2:143713791
- GRCh38:
- Chr2:142956222
| KYNU | T152M | Vertebral, cardiac, renal, and limb defects syndrome 2 | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143713804
- GRCh38:
- Chr2:142956235
| KYNU | Y156* | not provided, Congenital NAD deficiency disorder | Pathogenic/Likely pathogenic
(Sep 22, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:143713823
- GRCh38:
- Chr2:142956254
| KYNU | A164fs | Congenital NAD deficiency disorder | Pathogenic
(Nov 11, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr2:143715264
- GRCh38:
- Chr2:142957695
| KYNU | R188W | Inborn genetic diseases | Uncertain significance
(Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143715265
- GRCh38:
- Chr2:142957696
| KYNU | R188Q | not provided | Uncertain significance
(Dec 1, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:143715276
- GRCh38:
- Chr2:142957707
| KYNU | P192A | Inborn genetic diseases | Uncertain significance
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143718195
- GRCh38:
- Chr2:142960626
| KYNU | | not provided | Benign
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143718202
- GRCh38:
- Chr2:142960633
| KYNU | T198A | Hydroxykynureninuria | Pathogenic
(Apr 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr2:143718211
- GRCh38:
- Chr2:142960642
| KYNU | I201V | Inborn genetic diseases | Uncertain significance
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143718226
- GRCh38:
- Chr2:142960657
| KYNU | E206K | Congenital NAD deficiency disorder | Likely pathogenic
(Nov 11, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr2:143718348
- GRCh38:
- Chr2:142960779
| KYNU | | not provided | Benign
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143742655
- GRCh38:
- Chr2:142985086
| KYNU | | not provided | Likely benign
(Apr 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143742682
- GRCh38:
- Chr2:142985113
| KYNU | | not provided | Benign
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143742696
- GRCh38:
- Chr2:142985127
| KYNU | V258A | Hydroxykynureninuria | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143742711
- GRCh38:
- Chr2:142985142
| KYNU | H263R | Congenital NAD deficiency disorder | Pathogenic
(Nov 11, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr2:143742759
- GRCh38:
- Chr2:142985190
| KYNU | | not provided | Likely benign
(Jul 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143742760
- GRCh38:
- Chr2:142985191
| KYNU | | not provided | Likely benign
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143743591
- GRCh38:
- Chr2:142986022
| KYNU | | Vertebral, cardiac, renal, and limb defects syndrome 2 | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143787194
- GRCh38:
- Chr2:143029625
| KYNU | | not provided | Likely pathogenic
(Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143787274
- GRCh38:
- Chr2:143029705
| KYNU | | Hydroxykynureninuria, Vertebral, cardiac, renal, and limb defects syndrome 2 | Benign
(Aug 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143790815
- GRCh38:
- Chr2:143033246
| KYNU | I323fs | not provided | Pathogenic
(Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143790838
- GRCh38:
- Chr2:143033269
| KYNU | R330Q | Catel-Manzke syndrome | Pathogenic
(Jan 7, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143790884
- GRCh38:
- Chr2:143033315
| KYNU | S345R | Congenital NAD deficiency disorder | Likely pathogenic
(Nov 11, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr2:143797999-143798005
- GRCh38:
- Chr2:143040430-143040436
| KYNU | F349fs | not provided, Congenital NAD deficiency disorder | Pathogenic/Likely pathogenic
(Aug 26, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:143798002
- GRCh38:
- Chr2:143040433
| KYNU | | not provided | Benign
(Aug 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143798215
- GRCh38:
- Chr2:143040646
| KYNU | | not provided | Likely benign
(Dec 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143799625
- GRCh38:
- Chr2:143042056
| KYNU | R428W | Catel-Manzke syndrome | Pathogenic
(Jan 7, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143610406-143881574
| KYNU | | not provided | Uncertain significance
(Jun 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:1-243199373
| ABCG5, C1D, C1QL2, CMPK2, CNGA3, EEF1B2, GBX2, GEMIN6, GPAT2, GPATCH11, GPN1, GPR55, GKN2, GLB1L, GPBAR1, GPC1, GPD2, GCFC2, GCG, GCA, GCC2, GCKR, GDF7, ELMOD3, EFR3B, EGR4, EHBP1, EHD3, EIF2AK2, EIF2AK3, EFEMP1, EFHD1, EIF2B4, EIF4E2, EIF5B, EIPR1, COMMD1, COPS7B, COPS8, COLEC11, CNOT11, CNOT9, CNNM3, CNNM4, CNPPD1, CNRIP1, CNTNAP5, COA5, COBLL1, C2orf69, C2orf27A, C2orf42, C2orf48, C2orf49, C2CD6, C2orf72, C2orf15, C2orf16, C2orf50, C2orf66, C2orf68, ABI2, ACP1, ABCG8, ABHD1, ACADL, ACKR3, ACMSD, ACOXL, ACSL3, ACTG2, ACTR1B, ACTR2, ACTR3, AAK1, AAMP, ABCA12, ABCB11, ABCB6, ACVR1, ACVR1C, ACVR2A, ACYP2, ADAM17, ADAM23, ADCY3, ADD2, ADGRF3, ADI1, ADRA2B, AFF3, AFTPH, AGAP1, AGBL5, AGFG1, AGPS, AGXT, ALK, ALKAL2, ALLC, ALMS1, ALPG, ALPI, ALPP, ALS2, AMER3, AMMECR1L, ANAPC1, ANKAR, ANKMY1, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, ANKRD44, ANKRD53, ANKZF1, ANO7, ANTXR1, ANXA4, AOX1, AP1S3, APLF, APOB, AQP12A, AQP12B, ARHGAP15, ARHGAP25, ARHGEF33, ARHGEF4, ARID5A, ARL4C, ARL5A, ARL6IP6, ARMC9, ARPC2, ASAP2, ASB1, ASB18, ASB3, ASIC4, ASNSD1, ASPRV1, ASTL, ASXL2, ATAD2B, ATF2, ATG16L1, ATG4B, ATG9A, ATIC, ATL2, ATOH8, ATP5MC3, ATP6V1B1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GALT1, B3GNT2, B3GNT7, BABAM2, BARD1, BAZ2B, BBS5, BCL11A, BCL2L11, BCS1L, BCYRN1, BIN1, BIRC6, BMP10, BMPR2, BOK, BOLA3, BOLL, BUB1, BZW1, C2orf73, C2orf74, C2orf76, C2orf78, C2orf80, C2orf81, C2orf83, C2orf88, CAB39, CACNB4, CAD, CALCRL, CALM2, CAMKMT, CAPG, CAPN10, CAPN13, CAPN14, CARF, CASP10, CASP8, CATIP, CAVIN2, CCDC115, CCDC121, CCDC138, CCDC140, CCDC141, CCDC142, CCDC148, CCDC150, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CCL20, CCNT2, CCNYL1, CCT4, CCT7, CD207, CD28, CD302, CD8A, CD8B, CDC42EP3, CDCA7, CDK15, CDK5R2, CDKL4, CDRT15P3, CEBPZ, CENPA, CENPO, CEP68, CERKL, CERS6, CFAP210, CFAP36, CFAP65, CFC1, CFC1B, CFLAR, CGREF1, CHAC2, CHCHD5, CHMP3, CHN1, CHPF, CHRNA1, CHRND, CHRNG, CHST10, CIAO1, CIB4, CIR1, CKAP2L, CLASP1, CLEC4F, CLHC1, CLIP4, CLK1, CMKLR2, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COPS9, COQ10B, COX5B, COX7A2L, CPO, CPS1, CPSF3, CRACDL, CREB1, CREG2, CRIM1, CRIPT, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CSRNP3, CTDSP1, CTLA4, CTNNA2, CUL3, CWC22, CXCR1, CXCR2, CXCR4, CYBRD1, CYP1B1, CYP20A1, CYP26B1, CYP27A1, CYP27C1, CYRIA, CYS1, CYTIP, D2HGDH, DAPL1, DARS1, DAW1, DBI, DCAF17, DCDC2C, DCTN1, DDX1, DDX18, DES, DGKD, DGUOK, DHRS9, DHX57, DIRC1, DIRC3, DIS3L2, DLX1, DLX2, DNAAF10, DNAH6, DNAH7, DNAJB2, DNAJB3, DNAJC10, DNAJC27, DNAJC5G, DNER, DNMT3A, DNPEP, DOCK10, DOK1, DPP10, DPP4, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTYMK, DUSP11, DUSP19, DUSP2, DUSP28, DYNC1I2, DYNC2LI1, DYSF, DYTN, E2F6, ECEL1, ECRG4, EDAR, EMILIN1, EML4, EML6, EMX1, EN1, EPAS1, EPB41L5, EPC2, EPCAM, EPHA4, ERBB4, ERCC3, ERFE, ERICH2, ERLEC1, ERMN, ESPNL, ETAA1, EVA1A, EVX2, EXOC6B, FABP1, FAHD2A, FAHD2B, FAM110C, FAM117B, FAM124B, FAM136A, FAM161A, FAM166C, FAM168B, FAM171B, FAM178B, FAM228A, FAM228B, FAM98A, FANCL, FAP, FARP2, FARSB, FASTKD1, FASTKD2, FBLN7, FBXO11, FBXO36, FBXO41, FBXO48, FER1L5, FEV, FEZ2, FHL2, FIGLA, FIGN, FKBP1B, FKBP7, FLACC1, FMNL2, FN1, FNDC4, FOSL2, FOXD4L1, FOXI3, FOXN2, FRZB, FSHR, FSIP2, FTCDNL1, FZD5, FZD7, G6PC2, GAD1, GAL3ST2, GALM, GALNT13, GALNT14, GALNT3, GALNT5, GAREM2, GEN1, GFPT1, GGCX, GIGYF2, GKN1, GLI2, GLS, GMCL1, GMPPA, GNLY, GORASP2, GPR148, GPR155, GPR17, GPR35, GPR39, GPR45, GPR75, GPR75-ASB3, GRB14, SLC9A4, SMARCAL1, SMC6, SMPD4, SMYD1, SMYD5, SNED1, SNORC, SNORD20, SNORD82, SNRNP200, SNRNP27, SNRPG, SNTG2, SNX17, SOCS5, SOS1, SOS1-IT1, SOWAHC, SOX11, SP100, SP110, SP140, SP140L, SP3, SP5, SP9, SPAG16, SPAST, SPATA3, SPATS2L, SPC25, SPDYA, SPEG, SPHKAP, SPOPL, SPP2, SPR, SPRED2, SPTBN1, SRBD1, SRD5A2, SRSF7, SSB, ST3GAL5, ST6GAL2, STAM2, STAMBP, STARD7, STAT1, STAT4, STEAP3, STK11IP, STK16, STK17B, STK25, STK36, STK39, STON1, STON1-GTF2A1L, STPG4, STRADB, STRN, SUCLG1, SULT1C2, SULT1C3, SULT1C4, SULT6B1, SUMO1, SUPT7L, TACR1, TAF1B, TANC1, TANK, TBC1D8, TBR1, TCF23, TCF7L1, TDRD15, TEKT4, TET3, TEX261, TEX37, TEX44, TFCP2L1, TFPI, TGFA, TGFBRAP1, TGOLN2, THADA, THAP4, THNSL2, THSD7B, THUMPD2, TIA1, TIGD1, TLK1, TLX2, TM4SF20, TMBIM1, TMEFF2, TMEM127, TMEM131, TMEM150A, TMEM163, TMEM169, TMEM17, TMEM177, TMEM178A, TMEM18, TMEM182, TMEM185B, TMEM198, TMEM214, TMEM237, TMEM247, TMEM37, TMEM87B, TMSB10, TNFAIP6, TNP1, TNS1, TOGARAM2, TP53I3, TPO, TPRKB, TRABD2A, TRAF3IP1, TRAK2, TRAPPC12, TRIB2, TRIM43, TRIM43B, TRIM54, TRIP12, TRMT61B, TRPM8, TSGA10, TSN, TSPYL6, TTC21B, TTC27, TTC31, TTC32, TTC7A, TTL, TTLL4, TTN, TUBA3D, TUBA3E, TUBA4A, TWIST2, TXNDC9, TYW5, UBE2E3, UBE2F, UBR3, UBXN2A, UBXN4, UCN, UGGT1, UGP2, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UNC50, UNC80, UPP2, USP34, USP37, USP39, USP40, UXS1, VAMP5, VAMP8, VAX2, VIL1, VIT, VPS54, VRK2, VSNL1, VWA3B, VWC2L, WBP1, WDCP, WDFY1, WDPCP, WDR12, WDR33, WDR35, WDR43, WDR54, WDR75, WDSUB1, WIPF1, WNT10A, WNT6, XDH, XIRP2, XPO1, XRCC5, YIPF4, YPEL5, YWHAQ, ZAP70, ZC3H15, ZC3H6, ZC3H8, ZDBF2, ZEB2, ZFAND2B, ZFP36L2, ZNF142, ZNF2, ZNF385B, ZNF512, ZNF513, ZNF514, ZNF638, ZNF804A, ZNF806, ZNG1B, ZRANB3, ZSWIM2, GREB1, GRHL1, GTDC1, GTF2A1L, GTF3C2, GTF3C3, GULP1, GYPC, HAAO, HADHA, HADHB, HAT1, HDAC4, HDLBP, HEATR5B, HECW2, HES6, HIBCH, HJURP, HK2, HNMT, HNRNPA3, HNRNPLL, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HPCAL1, HS1BP3, HS6ST1, HSPD1, HSPE1, HTR2B, HTRA2, HYCC2, IAH1, ICA1L, ICOS, ID2, IDH1, IFIH1, IFT172, IFT70A, IFT70B, IGFBP2, IGFBP5, IGKC, IHH, IKZF2, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1R1, IL1R2, IL1RL1, IL1RL2, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, ILKAP, IMMT, IMP4, ING5, INHA, INHBB, INO80B, INO80D, INPP1, INPP4A, INSIG2, IQCA1, IRS1, ITGA4, ITGA6, ITGAV, ITGB1BP1, ITGB6, ITM2C, ITPRID2, ITPRIPL1, ITSN2, IWS1, KANSL1L, KANSL3, KCMF1, KCNE4, KCNF1, KCNG3, KCNH7, KCNIP3, KCNJ13, KCNJ3, KCNK12, KCNK3, KCNS3, KCTD18, KDM3A, KHK, KIDINS220, KIF1A, KIF3C, KLF11, KLF7, KLHL23, KLHL29, KLHL30, KLHL41, KRCC1, KRTCAP3, KYNU, LANCL1, LAPTM4A, LBH, LBX2, LCLAT1, LCT, LDAH, LGALSL, LHCGR, LIMS1, LIMS2, LIMS3, LIMS4, LINC00570, LINC01873, LINC02898, LIPT1, LMAN2L, LNPK, LOC100128563, LONRF2, LOXL3, LPIN1, LRATD1, LRP1B, LRP2, LRPPRC, LRRFIP1, LRRTM1, LRRTM4, LTBP1, LY75, LY75-CD302, LYG1, LYG2, LYPD1, LYPD6, LYPD6B, M1AP, MAB21L4, MAIP1, MAL, MALL, MAP2, MAP3K19, MAP3K2, MAP3K20, MAP4K3, MAP4K4, MAPRE3, MARCHF4, MARCHF7, MARCO, MARS2, MAT2A, MATN3, MBD5, MBOAT2, MCEE, MCFD2, MCM6, MDH1, MDH1B, MEIS1, MEMO1, MERTK, METAP1D, METTL21A, METTL5, METTL8, MFF, MFSD2B, MFSD6, MFSD9, MGAT4A, MGAT5, MIR10B, MIR1258, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, MIR375, MITD1, MLPH, MMADHC, MOB1A, MOB4, MOGAT1, MOGS, MORN2, MPHOSPH10, MPP4, MPV17, MREG, MROH2A, MRPL19, MRPL30, MRPL33, MRPL35, MRPL44, MRPL53, MRPS5, MRPS9, MSGN1, MSH2, MSH2-OT1, MSH6, MSTN, MTA3, MTERF4, MTHFD2, MTIF2, MTX2, MXD1, MYCN, MYCNOS, MYL1, MYO1B, MYO3B, MYO7B, MYT1L, MZT2A, MZT2B, NAB1, NABP1, NAGK, NAT8, NAT8B, NBAS, NBEAL1, NCAPH, NCK2, NCKAP1, NCKAP5, NCL, NCOA1, NDUFA10, NDUFAF7, NDUFB3, NDUFS1, NEB, NEMP2, NEU2, NEU4, NEUROD1, NFE2L2, NFU1, NGEF, NHEJ1, NIF3L1, NIFK, NLRC4, NMI, NMS, NMUR1, NOL10, NOP58, NOSTRIN, NOTO, NPAS2, NPHP1, NPPC, NR4A2, NRBP1, NRP2, NRXN1, NT5C1B, NT5C1B-RDH14, NT5DC4, NTSR2, NUP35, NXPH2, NYAP2, OBSL1, ODC1, OLA1, OR6B2, OR6B3, ORC2, ORC4, ORMDL1, OSBPL6, OSGEPL1, OSR1, OST4, OTOF, OTOS, OTX1, OXER1, PAIP2B, PAPOLG, PARD3B, PASK, PAX3, PAX8, PCARE, PCBP1, PCGEM1, PCGF1, PCYOX1, PDCD1, PDCL3, PDE11A, PDE1A, PDE6D, PDIA6, PDK1, PECR, PELI1, PER2, PEX13, PFN4, PGAP1, PHOSPHO2, PID1, PIGF, PIKFYVE, PJVK, PKDCC, PKP4, PLA2R1, PLB1, PLCD4, PLCL1, PLEK, PLEKHA3, PLEKHB2, PLEKHH2, PLEKHM3, PLGLB1, PMS1, PNKD, PNO1, PNPT1, POLE4, POLR1A, POLR1B, POLR2D, POMC, POTEE, POTEF, POTEI, POTEJ, POU3F3, PPIG, PPIL3, PPM1B, PPM1G, PPP1CB, PPP1R1C, PPP1R21, PPP1R7, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKAG3, PRKCE, PRKD3, PRKRA, PRLH, PROC, PROKR1, PROM2, PRPF40A, PRR21, PRR30, PRSS56, PSD4, PSMD1, PSMD14, PSME4, PTCD3, PTH2R, PTMA, PTPN18, PTPN4, PTPRN, PTRHD1, PUM2, PUS10, PXDN, QPCT, R3HDM1, RAB10, RAB11FIP5, RAB17, RAB1A, RAB3GAP1, RAB6C, RABL2A, RAD51AP2, RALB, RAMP1, RANBP2, RAPGEF4, RAPH1, RASGRP3, RBKS, RBM43, RBM44, RBM45, RBMS1, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, RESP18, RETREG2, RETSAT, REV1, RFTN2, RFX8, RGPD1, RGPD2, RGPD3, RGPD4, RGPD5, RGPD6, RGPD8, RHBDD1, RHOB, RHOQ, RIF1, RMDN2, RMND5A, RNASEH1, RND3, RNF103, RNF103-CHMP3, RNF144A, RNF149, RNF181, RNF25, RNPEPL1, RNU4ATAC, ROCK2, RPE, RPIA, RPL31, RPL37A, RPRM, RPS27A, RPS7, RRM2, RSAD2, RTKN, RTN4, RTP5, RUFY4, SAG, SANBR, SAP130, SATB2, SCG2, SCLY, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SCTR, SDC1, SELENOI, SEMA4C, SEMA4F, SEPTIN10, SEPTIN2, SERPINE2, SERTAD2, SESTD1, SF3B1, SF3B6, SFT2D3, SFTPB, SFXN5, SGO2, SGPP2, SH2D6, SH3BP4, SH3YL1, SIX2, SIX3, SLC11A1, SLC16A14, SLC19A3, SLC1A4, SLC20A1, SLC23A3, SLC25A12, SLC30A3, SLC30A6, SLC35F5, SLC35F6, SLC38A11, SLC39A10, SLC3A1, SLC40A1, SLC4A10, SLC4A1AP, SLC4A3, SLC4A5, SLC5A6, SLC5A7, SLC66A3, SLC8A1, SLC9A2 | | Mosaic trisomy 2 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:112475655-145691999
| TFCP2L1, THSD7B, TMEM87B, TSN, TTL, TUBA3D, ARHGAP15, CCDC74A, TMEM163, TMEM177, TUBA3E, UBXN4, TMEM185B, TMEM37, UGGT1, WDR33, ZC3H6, ACMSD, ACTR3, AMER3, AMMECR1L, ANAPC1, ARHGEF4, BIN1, C1QL2, C2orf27A, C2orf76, CCDC115, CCDC74B, CCDC93, CCNT2, CDRT15P3, CFC1, CFC1B, CHCHD5, CKAP2L, CLASP1, CNTNAP5, CXCR4, CYP27C1, DARS1, DBI, DDX18, DPP10, EN1, EPB41L5, ERCC3, FAM168B, FBLN7, FOXD4L1, GLI2, GPR148, GPR17, GPR39, GTDC1, GYPC, HNMT, HS6ST1, IL1A, IL1B, IL1F10, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, IMP4, INHBB, INSIG2, IWS1, KYNU, LCT, LIMS2, LRP1B, LYPD1, MAP3K19, MAP3K2, MARCO, MCM6, MERTK, MGAT5, MIR128-1, MYO7B, MZT2A, MZT2B, NCKAP5, NIFK, NT5DC4, NXPH2, PAX8, PLEKHB2, POLR1B, POLR2D, POTEE, POTEF, POTEI, POTEJ, PROC, PSD4, PTPN18, PTPN4, R3HDM1, RAB3GAP1, RAB6C, RABL2A, RALB, RGPD8, RNU4ATAC, SAP130, SCTR, SFT2D3, SLC20A1, SLC35F5, SMPD4, SPOPL, STEAP3, ZC3H8, ZEB2, ZNF806, ZNG1B, ZRANB3 | | 2q13q22.3 microduplication syndrome | Pathogenic
(Feb 28, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:143440277-143686832
| KYNU | | not specified | Uncertain significance
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:143258712-152867819
| ACVR2A, ARHGAP15, ARL5A, CACNB4, EPC2, GTDC1, KYNU, LYPD6, LYPD6B, MBD5, MMADHC, NEB, NMI, ORC4, RBM43, RIF1, RND3, TNFAIP6, ZEB2 | | not specified | Pathogenic
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:138578298-144874187
| ARHGAP15, GTDC1, HNMT, KYNU, LRP1B, NXPH2, SPOPL | | not specified | Likely pathogenic
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:142409401-152680804
| ACVR2A, ARHGAP15, ARL5A, EPC2, GTDC1, KYNU, LRP1B, LYPD6, LYPD6B, MBD5, MMADHC, NEB, NMI, ORC4, RBM43, RIF1, RND3, TNFAIP6, ZEB2 | | not provided | Pathogenic
(Feb 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr2:111484468-146333604
| GPR39, IL1F10, IL1RN, IL36G, IL36RN, GTDC1, GYPC, HNMT, HS6ST1, IL1A, IL1B, IL36A, IL36B, IL37, ACMSD, ACOXL, ACTR3, AMER3, AMMECR1L, ANAPC1, ARHGAP15, ARHGEF4, BCL2L11, BIN1, C1QL2, C2orf27A, C2orf76, CCDC115, CCDC74A, CCDC74B, CCDC93, CCNT2, CDRT15P3, CFC1, CFC1B, CHCHD5, CKAP2L, CLASP1, CNTNAP5, CXCR4, CYP27C1, DARS1, DBI, DDX18, DPP10, EN1, EPB41L5, ERCC3, FAM168B, FBLN7, FOXD4L1, GLI2, GPR148, GPR17, IMP4, INHBB, INSIG2, IWS1, KYNU, LCT, LIMS2, LRP1B, LYPD1, MAP3K19, MAP3K2, MARCO, MCM6, MERTK, MGAT5, MIR128-1, MYO7B, MZT2A, MZT2B, NCKAP5, NIFK, NT5DC4, NXPH2, PAX8, PLEKHB2, POLR1B, POLR2D, POTEE, POTEF, POTEI, POTEJ, PROC, PSD4, PTPN18, PTPN4, R3HDM1, RAB3GAP1, RAB6C, RABL2A, RALB, RGPD8, RNU4ATAC, SAP130, SCTR, SFT2D3, SLC20A1, SLC35F5, SMPD4, SPOPL, STEAP3, TFCP2L1, THSD7B, TMEM163, TMEM177, TMEM185B, TMEM37, TMEM87B, TSN, TTL, TUBA3D, TUBA3E, UBXN4, UGGT1, WDR33, ZC3H6, ZC3H8, ZEB2, ZNF806, ZNG1B, ZRANB3 | | not provided | Pathogenic
(Mar 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr2:122699106-143799629
| ACMSD, AMER3, AMMECR1L, ARHGEF4, BIN1, C2orf27A, CCDC115, CCDC74A, CCDC74B, CCNT2, CDRT15P3, CFC1, CFC1B, CNTNAP5, CXCR4, CYP27C1, DARS1, ERCC3, FAM168B, GPR148, GPR17, GPR39, GYPC, HNMT, HS6ST1, IMP4, IWS1, KYNU, LCT, LIMS2, LRP1B, LYPD1, MAP3K19, MAP3K2, MCM6, MGAT5, MIR128-1, MYO7B, MZT2A, MZT2B, NCKAP5, NXPH2, PLEKHB2, POLR2D, POTEE, POTEF, POTEI, POTEJ, PROC, PTPN18, R3HDM1, RAB3GAP1, RAB6C, SAP130, SFT2D3, SMPD4, SPOPL, THSD7B, TMEM163, TUBA3D, TUBA3E, UBXN4, UGGT1, WDR33, ZNF806, ZRANB3 | | not provided | Pathogenic
(Mar 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr2:136473383-152727396
| R3HDM1, RIF1, RND3, SPOPL, TNFAIP6, UBXN4, RBM43, ARL5A, ARHGAP15, THSD7B, ACVR2A, CACNB4, CXCR4, DARS1, EPC2, GTDC1, HNMT, KYNU, LCT, LRP1B, LYPD6, LYPD6B, MBD5, MCM6, MMADHC, NEB, NMI, NXPH2, ORC4, ZEB2 | | Strabismus, Global developmental delay, Short stature
| Pathogenic
(Mar 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:137639637-146827604
| ZEB2, HNMT, THSD7B, KYNU, ARHGAP15, GTDC1, LRP1B, SPOPL, NXPH2 | | Mowat-Wilson syndrome | Pathogenic
(Mar 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:142738538-143643346
| LRP1B, KYNU | | not provided | Uncertain significance
(Mar 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:143192287-144325954
| ARHGAP15, KYNU | | not provided | Uncertain significance
(Jun 28, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr2:143290896-143804910
| KYNU | | not provided | Uncertain significance
(Feb 23, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr2:15672-243101834
| ARHGEF4, ARID5A, ARL4C, ARL5A, ARL6IP6, ARMC9, ARPC2, ASAP2, ASB1, ASB18, ASB3, ASIC4, ASNSD1, ASPRV1, ASTL, ASXL2, ATAD2B, ATF2, ATG16L1, ATG4B, ATG9A, ATIC, ATL2, ATOH8, ATP5MC3, ATP6V1B1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GALT1, B3GNT2, B3GNT7, BABAM2, BARD1, BAZ2B, BBS5, BCL11A, BCL2L11, BCS1L, BCYRN1, BIN1, BIRC6, BMP10, BMPR2, BOK, BOLA3, BOLL, BUB1, BZW1, C1D, C1QL2, C2CD6, C2orf15, C2orf16, C2orf27A, C2orf42, C2orf48, C2orf49, C2orf50, C2orf66, C2orf68, C2orf69, C2orf72, C2orf73, C2orf74, C2orf76, C2orf78, C2orf80, C2orf81, C2orf83, C2orf88, CAB39, CACNB4, CAD, CALCRL, CALM2, CAMKMT, CAPG, CAPN10, CAPN13, CAPN14, CARF, CASP10, CASP8, CATIP, CAVIN2, CCDC115, CCDC121, CCDC138, CCDC140, CCDC141, CCDC142, CCDC148, CCDC150, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CCL20, CCNT2, CCNYL1, CCT4, CCT7, CD207, CD28, CD302, CD8A, CD8B, CDC42EP3, CDCA7, CDK15, CDK5R2, CDKL4, CDRT15P3, CEBPZ, CENPA, CENPO, CEP68, CERKL, CERS6, CFAP210, CFAP36, CFAP65, CFC1, CFC1B, CFLAR, CGREF1, CHAC2, CHCHD5, CHMP3, CHN1, CHPF, CHRNA1, CHRND, CHRNG, CHST10, CIAO1, CIB4, CIR1, CKAP2L, CLASP1, CLEC4F, CLHC1, CLIP4, CLK1, CMKLR2, CMPK2, CNGA3, CNNM3, CNNM4, CNOT11, CNOT9, CNPPD1, CNRIP1, CNTNAP5, COA5, COBLL1, COLEC11, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COMMD1, COPS7B, COPS8, COPS9, COQ10B, COX5B, COX7A2L, CPO, CPS1, CPSF3, CRACDL, CREB1, CREG2, CRIM1, CRIPT, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CSRNP3, CTDSP1, CTLA4, CTNNA2, CUL3, CWC22, CXCR1, CXCR2, CXCR4, CYBRD1, CYP1B1, CYP20A1, CYP26B1, CYP27A1, CYP27C1, CYRIA, CYS1, CYTIP, D2HGDH, DAPL1, DARS1, DAW1, DBI, DCAF17, DCDC2C, DCTN1, DDX1, DDX18, DES, DGKD, DGUOK, DHRS9, DHX57, DIRC1, DIRC3, DIS3L2, DLX1, DLX2, DNAAF10, DNAH6, DNAH7, DNAJB2, DNAJB3, DNAJC10, DNAJC27, DNAJC5G, DNER, DNMT3A, DNPEP, DOCK10, DOK1, DPP10, DPP4, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTYMK, DUSP11, DUSP19, DUSP2, DUSP28, DYNC1I2, DYNC2LI1, DYSF, DYTN, E2F6, ECEL1, ECRG4, EDAR, EEF1B2, EFEMP1, EFHD1, EFR3B, EGR4, EHBP1, EHD3, EIF2AK2, EIF2AK3, EIF2B4, EIF4E2, EIF5B, EIPR1, ELMOD3, EMILIN1, EML4, EML6, EMX1, EN1, EPAS1, EPB41L5, EPC2, EPCAM, EPHA4, ERBB4, ERCC3, ERFE, ERICH2, ERLEC1, ERMN, ESPNL, ETAA1, EVA1A, EVX2, EXOC6B, FABP1, FAHD2A, FAHD2B, FAM110C, FAM117B, FAM124B, FAM136A, FAM161A, FAM166C, FAM168B, FAM171B, FAM178B, FAM228A, FAM228B, FAM98A, FANCL, FAP, FARP2, FARSB, FASTKD1, FASTKD2, FBLN7, FBXO11, FBXO36, FBXO41, FBXO48, FER1L5, FEV, FEZ2, FHL2, FIGLA, FIGN, FKBP1B, FKBP7, FLACC1, FMNL2, FN1, FNDC4, FOSL2, FOXD4L1, FOXI3, FOXN2, FRZB, FSHR, FSIP2, FTCDNL1, FZD5, FZD7, G6PC2, GAD1, GAL3ST2, GALM, GALNT13, GALNT14, GALNT3, GALNT5, GAREM2, GBX2, GCA, GCC2, GCFC2, GCG, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GIGYF2, GKN1, GKN2, GLB1L, GLI2, GLS, GMCL1, GMPPA, GNLY, GORASP2, GPAT2, GPATCH11, GPBAR1, GPC1, GPD2, GPN1, GPR148, GPR155, GPR17, GPR35, GPR39, GPR45, GPR55, GPR75, GPR75-ASB3, GRB14, GREB1, GRHL1, GTDC1, GTF2A1L, GTF3C2, GTF3C3, GULP1, GYPC, HAAO, HADHA, HADHB, HAT1, HDAC4, HDLBP, HEATR5B, HECW2, HES6, HIBCH, HJURP, HK2, HNMT, HNRNPA3, HNRNPLL, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HPCAL1, HS1BP3, HS6ST1, HSPD1, HSPE1, HTR2B, HTRA2, HYCC2, IAH1, ICA1L, ICOS, ID2, IDH1, IFIH1, IFT172, IFT70A, IFT70B, IGFBP2, IGFBP5, IGKC, IHH, IKZF2, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1R1, IL1R2, IL1RL1, IL1RL2, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, ILKAP, IMMT, IMP4, ING5, INHA, INHBB, INO80B, INO80D, INPP1, INPP4A, INSIG2, IQCA1, IRS1, ITGA4, ITGA6, ITGAV, ITGB1BP1, ITGB6, ITM2C, ITPRID2, ITPRIPL1, ITSN2, IWS1, KANSL1L, KANSL3, KCMF1, KCNE4, KCNF1, KCNG3, KCNH7, KCNIP3, KCNJ13, KCNJ3, KCNK12, KCNK3, KCNS3, KCTD18, KDM3A, KHK, KIDINS220, KIF1A, KIF3C, KLF11, KLF7, KLHL23, KLHL29, KLHL30, KLHL41, KRCC1, KRTCAP3, KYNU, LANCL1, LAPTM4A, LBH, LBX2, LCLAT1, LCT, LDAH, LGALSL, LHCGR, LIMS1, LIMS2, LIMS3, LIMS4, LINC00570, LINC01873, LINC02898, LIPT1, LMAN2L, LNPK, LOC100128563, LONRF2, LOXL3, LPIN1, LRATD1, LRP1B, LRP2, TTL, TTLL4, TTN, TUBA3D, TUBA3E, TUBA4A, TWIST2, TXNDC9, TYW5, UBE2E3, UBE2F, UBR3, UBXN2A, UBXN4, UCN, UGGT1, UGP2, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UNC50, UNC80, UPP2, USP34, USP37, USP39, USP40, UXS1, VAMP5, VAMP8, VAX2, VIL1, VIT, VPS54, VRK2, VSNL1, VWA3B, VWC2L, WBP1, WDCP, WDFY1, WDPCP, WDR12, WDR33, WDR35, WDR43, WDR54, WDR75, WDSUB1, WIPF1, WNT10A, WNT6, XDH, XIRP2, XPO1, XRCC5, YIPF4, YPEL5, YWHAQ, ZAP70, ZC3H15, ZC3H6, ZC3H8, ZDBF2, ZEB2, ZFAND2B, ZFP36L2, ZNF142, ZNF2, ZNF385B, ZNF512, ZNF513, ZNF514, ZNF638, ZNF804A, ZNF806, ZNG1B, ZRANB3, ZSWIM2, AAK1, AAMP, ABCA12, ABCB11, ABCB6, ABCG5, ABCG8, ABHD1, ABI2, ACADL, ACKR3, ACMSD, ACOXL, ACP1, ACSL3, ACTG2, ACTR1B, ACTR2, ACTR3, ACVR1, ACVR1C, ACVR2A, ACYP2, ADAM17, ADAM23, ADCY3, ADD2, ADGRF3, ADI1, ADRA2B, AFF3, AFTPH, AGAP1, AGBL5, AGFG1, AGPS, AGXT, ALK, ALKAL2, ALLC, ALMS1, ALPG, ALPI, ALPP, ALS2, AMER3, AMMECR1L, ANAPC1, ANKAR, ANKMY1, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, ANKRD44, ANKRD53, ANKZF1, ANO7, ANTXR1, ANXA4, AOX1, AP1S3, APLF, APOB, AQP12A, AQP12B, ARHGAP15, ARHGAP25, ARHGEF33, LRPPRC, LRRFIP1, LRRTM1, LRRTM4, LTBP1, LY75, LY75-CD302, LYG1, LYG2, LYPD1, LYPD6, LYPD6B, M1AP, MAB21L4, MAIP1, MAL, MALL, MAP2, MAP3K19, MAP3K2, MAP3K20, MAP4K3, MAP4K4, MAPRE3, MARCHF4, MARCHF7, MARCO, MARS2, MAT2A, MATN3, MBD5, MBOAT2, MCEE, MCFD2, MCM6, MDH1, MDH1B, MEIS1, MEMO1, MERTK, METAP1D, METTL21A, METTL5, METTL8, MFF, MFSD2B, MFSD6, MFSD9, MGAT4A, MGAT5, MIR10B, MIR1258, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, MIR375, MITD1, MLPH, MMADHC, MOB1A, MOB4, MOGAT1, MOGS, MORN2, MPHOSPH10, MPP4, MPV17, MREG, MROH2A, MRPL19, MRPL30, MRPL33, MRPL35, MRPL44, MRPL53, MRPS5, MRPS9, MSGN1, MSH2, MSH2-OT1, MSH6, MSTN, MTA3, MTERF4, MTHFD2, MTIF2, MTX2, MXD1, MYCN, MYCNOS, MYL1, MYO1B, MYO3B, MYO7B, MYT1L, MZT2A, MZT2B, NAB1, NABP1, NAGK, NAT8, NAT8B, NBAS, NBEAL1, NCAPH, NCK2, NCKAP1, NCKAP5, NCL, NCOA1, NDUFA10, NDUFAF7, NDUFB3, NDUFS1, NEB, NEMP2, NEU2, NEU4, NEUROD1, NFE2L2, NFU1, NGEF, NHEJ1, NIF3L1, NIFK, NLRC4, NMI, NMS, NMUR1, NOL10, NOP58, NOSTRIN, NOTO, NPAS2, NPHP1, NPPC, NR4A2, NRBP1, NRP2, NRXN1, NT5C1B, NT5C1B-RDH14, NT5DC4, NTSR2, NUP35, NXPH2, NYAP2, OBSL1, ODC1, OLA1, OR6B2, OR6B3, ORC2, ORC4, ORMDL1, OSBPL6, OSGEPL1, OSR1, OST4, OTOF, OTOS, OTX1, OXER1, PAIP2B, PAPOLG, PARD3B, PASK, PAX3, PAX8, PCARE, PCBP1, PCGEM1, PCGF1, PCYOX1, PDCD1, PDCL3, PDE11A, PDE1A, PDE6D, PDIA6, PDK1, PECR, PELI1, PER2, PEX13, PFN4, PGAP1, PHOSPHO2, PID1, PIGF, PIKFYVE, PJVK, PKDCC, PKP4, PLA2R1, PLB1, PLCD4, PLCL1, PLEK, PLEKHA3, PLEKHB2, PLEKHH2, PLEKHM3, PLGLB1, PMS1, PNKD, PNO1, PNPT1, POLE4, POLR1A, POLR1B, POLR2D, POMC, POTEE, POTEF, POTEI, POTEJ, POU3F3, PPIG, PPIL3, PPM1B, PPM1G, PPP1CB, PPP1R1C, PPP1R21, PPP1R7, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKAG3, PRKCE, PRKD3, PRKRA, PRLH, PROC, PROKR1, PROM2, PRPF40A, PRR21, PRR30, PRSS56, PSD4, PSMD1, PSMD14, PSME4, PTCD3, PTH2R, PTMA, PTPN18, PTPN4, PTPRN, PTRHD1, PUM2, PUS10, PXDN, QPCT, R3HDM1, RAB10, RAB11FIP5, RAB17, RAB1A, RAB3GAP1, RAB6C, RABL2A, RAD51AP2, RALB, RAMP1, RANBP2, RAPGEF4, RAPH1, RASGRP3, RBKS, RBM43, RBM44, RBM45, RBMS1, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, RESP18, RETREG2, RETSAT, REV1, RFTN2, RFX8, RGPD1, RGPD2, RGPD3, RGPD4, RGPD5, RGPD6, RGPD8, RHBDD1, RHOB, RHOQ, RIF1, RMDN2, RMND5A, RNASEH1, RND3, RNF103, RNF103-CHMP3, RNF144A, RNF149, RNF181, RNF25, RNPEPL1, RNU4ATAC, ROCK2, RPE, RPIA, RPL31, RPL37A, RPRM, RPS27A, RPS7, RRM2, RSAD2, RTKN, RTN4, RTP5, RUFY4, SAG, SANBR, SAP130, SATB2, SCG2, SCLY, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SCTR, SDC1, SELENOI, SEMA4C, SEMA4F, SEPTIN10, SEPTIN2, SERPINE2, SERTAD2, SESTD1, SF3B1, SF3B6, SFT2D3, SFTPB, SFXN5, SGO2, SGPP2, SH2D6, SH3BP4, SH3YL1, SIX2, SIX3, SLC11A1, SLC16A14, SLC19A3, SLC1A4, SLC20A1, SLC23A3, SLC25A12, SLC30A3, SLC30A6, SLC35F5, SLC35F6, SLC38A11, SLC39A10, SLC3A1, SLC40A1, SLC4A10, SLC4A1AP, SLC4A3, SLC4A5, SLC5A6, SLC5A7, SLC66A3, SLC8A1, SLC9A2, SLC9A4, SMARCAL1, SMC6, SMPD4, SMYD1, SMYD5, SNED1, SNORC, SNORD20, SNORD82, SNRNP200, SNRNP27, SNRPG, SNTG2, SNX17, SOCS5, SOS1, SOS1-IT1, SOWAHC, SOX11, SP100, SP110, SP140, SP140L, SP3, SP5, SP9, SPAG16, SPAST, SPATA3, SPATS2L, SPC25, SPDYA, SPEG, SPHKAP, SPOPL, SPP2, SPR, SPRED2, SPTBN1, SRBD1, SRD5A2, SRSF7, SSB, ST3GAL5, ST6GAL2, STAM2, STAMBP, STARD7, STAT1, STAT4, STEAP3, STK11IP, STK16, STK17B, STK25, STK36, STK39, STON1, STON1-GTF2A1L, STPG4, STRADB, STRN, SUCLG1, SULT1C2, SULT1C3, SULT1C4, SULT6B1, SUMO1, SUPT7L, TACR1, TAF1B, TANC1, TANK, TBC1D8, TBR1, TCF23, TCF7L1, TDRD15, TEKT4, TET3, TEX261, TEX37, TEX44, TFCP2L1, TFPI, TGFA, TGFBRAP1, TGOLN2, THADA, THAP4, THNSL2, THSD7B, THUMPD2, TIA1, TIGD1, TLK1, TLX2, TM4SF20, TMBIM1, TMEFF2, TMEM127, TMEM131, TMEM150A, TMEM163, TMEM169, TMEM17, TMEM177, TMEM178A, TMEM18, TMEM182, TMEM185B, TMEM198, TMEM214, TMEM237, TMEM247, TMEM37, TMEM87B, TMSB10, TNFAIP6, TNP1, TNS1, TOGARAM2, TP53I3, TPO, TPRKB, TRABD2A, TRAF3IP1, TRAK2, TRAPPC12, TRIB2, TRIM43, TRIM43B, TRIM54, TRIP12, TRMT61B, TRPM8, TSGA10, TSN, TSPYL6, TTC21B, TTC27, TTC31, TTC32, TTC7A | | not provided | Pathogenic
(Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:14238-243048760
| CNGA3, CNNM3, CNNM4, CNOT11, CNOT9, CNPPD1, CNRIP1, CNTNAP5, COA5, COBLL1, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COLEC11, COMMD1, COPS7B, COPS8, COPS9, COQ10B, COX5B, COX7A2L, CPO, CPS1, CPSF3, CRACDL, CREB1, CREG2, CRIM1, CRIPT, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CSRNP3, CTDSP1, CTLA4, CTNNA2, CUL3, CWC22, CXCR1, CXCR2, CXCR4, CYBRD1, CYP1B1, CYP20A1, CYP26B1, CYP27A1, CYP27C1, CYRIA, CYS1, CYTIP, D2HGDH, DAPL1, DARS1, DAW1, DBI, DCAF17, DCDC2C, DCTN1, DDX1, DDX18, DES, DGKD, DGUOK, DHRS9, DHX57, DIRC1, DIRC3, DIS3L2, DLX1, DLX2, DNAAF10, DNAH6, DNAH7, DNAJB2, DNAJB3, DNAJC10, DNAJC27, DNAJC5G, DNER, DNMT3A, DNPEP, DOCK10, DOK1, DPP10, DPP4, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTYMK, DUSP11, DUSP19, DUSP2, DUSP28, DYNC1I2, DYNC2LI1, DYSF, DYTN, E2F6, ECEL1, ECRG4, EDAR, EEF1B2, EFEMP1, EFHD1, EFR3B, EGR4, EHBP1, EHD3, EIF2AK2, EIF2AK3, EIF2B4, EIF4E2, EIF5B, EIPR1, ELMOD3, EMILIN1, EML4, EML6, EMX1, EN1, EPAS1, EPB41L5, EPC2, EPCAM, EPHA4, ERBB4, ERCC3, ERFE, ERICH2, ERLEC1, ERMN, ESPNL, ETAA1, EVA1A, EVX2, EXOC6B, FABP1, FAHD2A, FAHD2B, FAM110C, FAM117B, FAM124B, FAM136A, FAM161A, FAM166C, FAM168B, FAM171B, FAM178B, FAM228A, FAM228B, FAM98A, FANCL, FAP, FARP2, FARSB, FASTKD1, FASTKD2, FBLN7, FBXO11, FBXO36, FBXO41, FBXO48, FER1L5, FEV, FEZ2, FHL2, FIGLA, FIGN, FKBP1B, FKBP7, FLACC1, FMNL2, FN1, FNDC4, FOSL2, FOXD4L1, FOXI3, FOXN2, FRZB, FSHR, FSIP2, FTCDNL1, FZD5, FZD7, G6PC2, GAD1, GAL3ST2, GALM, GALNT13, GALNT14, GALNT3, GALNT5, GAREM2, GBX2, GCA, GCC2, GCFC2, GCG, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GIGYF2, GKN1, GKN2, GLB1L, GLI2, GLS, GMCL1, GMPPA, GNLY, GORASP2, GPAT2, GPATCH11, GPBAR1, GPC1, GPD2, GPN1, GPR148, GPR155, GPR17, GPR35, GPR39, GPR45, GPR55, GPR75, GPR75-ASB3, GRB14, GREB1, GRHL1, GTDC1, GTF2A1L, GTF3C2, GTF3C3, GULP1, GYPC, HAAO, HADHA, HADHB, HAT1, HDAC4, HDLBP, HEATR5B, HECW2, HES6, HIBCH, HJURP, HK2, HNMT, HNRNPA3, HNRNPLL, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HPCAL1, HS1BP3, HS6ST1, HSPD1, HSPE1, HTR2B, HTRA2, HYCC2, IAH1, ICA1L, ICOS, ID2, IDH1, IFIH1, IFT172, IFT70A, IFT70B, IGFBP2, IGFBP5, IGKC, IHH, IKZF2, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1R1, IL1R2, IL1RL1, IL1RL2, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, ILKAP, IMMT, IMP4, ING5, INHA, INHBB, INO80B, INO80D, INPP1, INPP4A, INSIG2, IQCA1, IRS1, ITGA4, ITGA6, ITGAV, ITGB1BP1, ITGB6, ITM2C, ITPRID2, ITPRIPL1, ITSN2, IWS1, KANSL1L, KANSL3, KCMF1, KCNE4, KCNF1, KCNG3, KCNH7, KCNIP3, KCNJ13, KCNJ3, KCNK12, KCNK3, KCNS3, KCTD18, KDM3A, KHK, KIDINS220, KIF1A, KIF3C, KLF11, KLF7, KLHL23, KLHL29, KLHL30, KLHL41, KRCC1, KRTCAP3, KYNU, LANCL1, LAPTM4A, LBH, LBX2, LCLAT1, LCT, LDAH, LGALSL, LHCGR, LIMS1, LIMS2, LIMS3, LIMS4, LINC00570, LINC01873, LINC02898, LIPT1, LMAN2L, LNPK, LOC100128563, LONRF2, LOXL3, LPIN1, LRATD1, LRP1B, LRP2, LRPPRC, LRRFIP1, LRRTM1, LRRTM4, LTBP1, LY75, LY75-CD302, LYG1, LYG2, LYPD1, LYPD6, LYPD6B, M1AP, MAB21L4, MAIP1, MAL, MALL, MAP2, MAP3K19, MAP3K2, MAP3K20, MAP4K3, MAP4K4, MAPRE3, MARCHF4, MARCHF7, MARCO, MARS2, MAT2A, MATN3, MBD5, MBOAT2, MCEE, MCFD2, MCM6, MDH1, MDH1B, MEIS1, MEMO1, MERTK, METAP1D, METTL21A, METTL5, METTL8, MFF, MFSD2B, MFSD6, MFSD9, MGAT4A, MGAT5, MIR10B, MIR1258, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, MIR375, MITD1, MLPH, MMADHC, MOB1A, MOB4, MOGAT1, MOGS, MORN2, MPHOSPH10, MPP4, MPV17, MREG, MROH2A, MRPL19, MRPL30, MRPL33, MRPL35, MRPL44, MRPL53, MRPS5, MRPS9, MSGN1, MSH2, MSH2-OT1, MSH6, MSTN, MTA3, MTERF4, MTHFD2, MTIF2, MTX2, MXD1, MYCN, MYCNOS, MYL1, MYO1B, MYO3B, MYO7B, MYT1L, MZT2A, MZT2B, NAB1, NABP1, NAGK, NAT8, NAT8B, NBAS, NBEAL1, NCAPH, NCK2, NCKAP1, NCKAP5, NCL, NCOA1, NDUFA10, NDUFAF7, NDUFB3, NDUFS1, NEB, NEMP2, NEU2, NEU4, NEUROD1, NFE2L2, NFU1, NGEF, NHEJ1, NIF3L1, NIFK, NLRC4, NMI, NMS, NMUR1, NOL10, NOP58, NOSTRIN, NOTO, NPAS2, NPHP1, NPPC, NR4A2, NRBP1, NRP2, NRXN1, NT5C1B, NT5C1B-RDH14, NT5DC4, NTSR2, NUP35, NXPH2, NYAP2, OBSL1, ODC1, OLA1, OR6B2, OR6B3, ORC2, ORC4, ORMDL1, OSBPL6, OSGEPL1, OSR1, OST4, OTOF, OTOS, OTX1, OXER1, PAIP2B, PAPOLG, PARD3B, PASK, PAX3, PAX8, PCARE, PCBP1, PCGEM1, PCGF1, PCYOX1, PDCD1, PDCL3, PDE11A, PDE1A, PDE6D, PDIA6, PDK1, PECR, PELI1, PER2, PEX13, PFN4, PGAP1, PHOSPHO2, PID1, PIGF, PIKFYVE, PJVK, PKDCC, PKP4, PLA2R1, PLB1, PLCD4, PLCL1, PLEK, PLEKHA3, PLEKHB2, PLEKHH2, PLEKHM3, PLGLB1, PMS1, PNKD, PNO1, PNPT1, POLE4, POLR1A, POLR1B, POLR2D, POMC, POTEE, POTEF, POTEI, POTEJ, POU3F3, PPIG, PPIL3, PPM1B, PPM1G, PPP1CB, PPP1R1C, PPP1R21, PPP1R7, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKAG3, PRKCE, PRKD3, PRKRA, PRLH, PROC, PROKR1, PROM2, PRPF40A, PRR21, PRR30, PRSS56, PSD4, PSMD1, PSMD14, PSME4, PTCD3, PTH2R, PTMA, PTPN18, PTPN4, PTPRN, PTRHD1, PUM2, PUS10, PXDN, QPCT, R3HDM1, RAB10, RAB11FIP5, RAB17, RAB1A, RAB3GAP1, RAB6C, RABL2A, RAD51AP2, RALB, RAMP1, RANBP2, RAPGEF4, RAPH1, RASGRP3, RBKS, RBM43, RBM44, RBM45, RBMS1, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, RESP18, RETREG2, RETSAT, REV1, RFTN2, RFX8, RGPD1, RGPD2, RGPD3, RGPD4, RGPD5, RGPD6, RGPD8, RHBDD1, RHOB, RHOQ, RIF1, RMDN2, RMND5A, RNASEH1, RND3, RNF103, RNF103-CHMP3, RNF144A, RNF149, RNF181, RNF25, RNPEPL1, RNU4ATAC, ROCK2, RPE, RPIA, RPL31, RPL37A, RPRM, RPS27A, RPS7, RRM2, RSAD2, RTKN, RTN4, RTP5, RUFY4, SAG, SANBR, SAP130, SATB2, SCG2, SCLY, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SCTR, SDC1, SELENOI, SEMA4C, SEMA4F, SEPTIN10, SEPTIN2, SERPINE2, SERTAD2, SESTD1, SF3B1, SF3B6, SFT2D3, SFTPB, SFXN5, SGO2, SGPP2, SH2D6, SH3BP4, SH3YL1, SIX2, SIX3, SLC11A1, SLC16A14, SLC19A3, SLC1A4, SLC20A1, SLC23A3, SLC25A12, SLC30A3, SLC30A6, SLC35F5, SLC35F6, SLC38A11, SLC39A10, SLC3A1, SLC40A1, SLC4A10, SLC4A1AP, SLC4A3, SLC4A5, SLC5A6, SLC5A7, SLC66A3, SLC8A1, SLC9A2, SLC9A4, SMARCAL1, SMC6, SMPD4, SMYD1, SMYD5, SNED1, SNORC, SNORD20, SNORD82, SNRNP200, SNRNP27, SNRPG, SNTG2, SNX17, SOCS5, SOS1, SOS1-IT1, SOWAHC, SOX11, SP100, SP110, SP140, SP140L, SP3, SP5, SP9, SPAG16, SPAST, SPATA3, SPATS2L, SPC25, SPDYA, SPEG, SPHKAP, SPOPL, SPP2, SPR, SPRED2, SPTBN1, SRBD1, SRD5A2, SRSF7, SSB, ST3GAL5, ST6GAL2, STAM2, STAMBP, STARD7, STAT1, STAT4, STEAP3, STK11IP, STK16, STK17B, STK25, STK36, STK39, STON1, STON1-GTF2A1L, STPG4, STRADB, STRN, SUCLG1, SULT1C2, SULT1C3, SULT1C4, SULT6B1, SUMO1, SUPT7L, TACR1, TAF1B, TANC1, TANK, TBC1D8, TBR1, TCF23, TCF7L1, TDRD15, TEKT4, TET3, TEX261, TEX37, TEX44, TFCP2L1, TFPI, TGFA, TGFBRAP1, TGOLN2, THADA, THAP4, THNSL2, THSD7B, THUMPD2, TIA1, TIGD1, TLK1, TLX2, TM4SF20, TMBIM1, TMEFF2, TMEM127, TMEM131, TMEM150A, TMEM163, TMEM169, TMEM17, TMEM177, TMEM178A, TMEM18, TMEM182, TMEM185B, TMEM198, TMEM214, TMEM237, TMEM247, TMEM37, TMEM87B, TMSB10, TNFAIP6, TNP1, TNS1, TOGARAM2, TP53I3, TPO, TPRKB, TRABD2A, TRAF3IP1, TRAK2, TRAPPC12, TRIB2, TRIM43, TRIM43B, TRIM54, TRIP12, TRMT61B, TRPM8, TSGA10, TSN, TSPYL6, TTC21B, TTC27, TTC31, TTC32, TTC7A, TTL, TTLL4, TTN, TUBA3D, TUBA3E, TUBA4A, TWIST2, TXNDC9, TYW5, UBE2E3, UBE2F, UBR3, UBXN2A, UBXN4, UCN, UGGT1, UGP2, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UNC50, UNC80, UPP2, USP34, USP37, USP39, USP40, UXS1, VAMP5, VAMP8, VAX2, VIL1, VIT, VPS54, VRK2, VSNL1, VWA3B, VWC2L, WBP1, WDCP, WDFY1, WDPCP, WDR12, WDR33, WDR35, WDR43, WDR54, WDR75, WDSUB1, WIPF1, WNT10A, WNT6, XDH, XIRP2, XPO1, XRCC5, YIPF4, YPEL5, YWHAQ, ZAP70, ZC3H15, ZC3H6, ZC3H8, ZDBF2, ZNF512, ZEB2, ZFAND2B, ZFP36L2, ZNF142, ZNF2, ZNF385B, ZNF513, ZNF514, ZNF638, ZNF804A, ZNF806, ZNG1B, ZRANB3, ZSWIM2, AAMP, ABCG5, ABCB6, ABCA12, ABCB11, AAK1, ABCG8, ABHD1, ABI2, ACADL, ACKR3, ACMSD, ACOXL, ACP1, ACSL3, ACTG2, ACTR1B, ACTR2, ACTR3, ACVR1, ACVR1C, ACVR2A, ACYP2, ADAM17, ADAM23, ADCY3, ADD2, ADGRF3, ADI1, ADRA2B, AFF3, AFTPH, AGAP1, AGBL5, AGFG1, AGPS, AGXT, ALK, ALKAL2, ALLC, ALMS1, ALPG, ALPI, ALPP, ALS2, AMER3, AMMECR1L, ANAPC1, ANKAR, ANKMY1, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, ANKRD44, ANKRD53, ANKZF1, ANO7, ANTXR1, ANXA4, AOX1, AP1S3, APLF, APOB, AQP12A, AQP12B, ARHGAP15, ARHGAP25, ARHGEF33, ARHGEF4, ARID5A, ARL4C, ARL5A, ARL6IP6, ARMC9, ARPC2, ASAP2, ASB1, ASB18, ASB3, ASIC4, ASNSD1, ASPRV1, ASTL, ASXL2, ATAD2B, ATF2, ATG16L1, ATG4B, ATG9A, ATIC, ATL2, ATOH8, ATP5MC3, ATP6V1B1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GALT1, B3GNT2, B3GNT7, BABAM2, BARD1, BAZ2B, BBS5, BCL11A, BCL2L11, BCS1L, BCYRN1, BIN1, BIRC6, BMP10, BMPR2, BOK, BOLA3, BOLL, BUB1, BZW1, C1D, C1QL2, C2CD6, C2orf15, C2orf16, C2orf27A, C2orf42, C2orf48, C2orf49, C2orf50, C2orf66, C2orf68, C2orf69, C2orf72, C2orf73, C2orf74, C2orf76, C2orf78, C2orf80, C2orf81, C2orf83, C2orf88, CAB39, CACNB4, CAD, CALCRL, CALM2, CAMKMT, CAPG, CAPN10, CAPN13, CAPN14, CARF, CASP10, CASP8, CATIP, CAVIN2, CCDC115, CCDC121, CCDC138, CCDC140, CCDC141, CCDC142, CCDC148, CCDC150, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CCL20, CCNT2, CCNYL1, CCT4, CCT7, CD207, CD28, CD302, CD8A, CD8B, CDC42EP3, CDCA7, CDK15, CDK5R2, CDKL4, CDRT15P3, CEBPZ, CENPA, CENPO, CEP68, CERKL, CERS6, CFAP210, CFAP36, CFAP65, CFC1, CFC1B, CFLAR, CGREF1, CHAC2, CHCHD5, CHMP3, CHN1, CHPF, CHRNA1, CHRND, CHRNG, CHST10, CIAO1, CIB4, CIR1, CKAP2L, CLASP1, CLEC4F, CLHC1, CLIP4, CLK1, CMKLR2, CMPK2 | | not provided | Pathogenic
(Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr2:40607042-146902764
| C1QL2, C2orf15, CRIPT, CTNNA2, FOXI3, KDM3A, MTA3, MTHFD2, MTIF2, PROM2, SLC20A1, TPRKB, ZC3H8, ZEB2, ZNF514, ZNF638, ZNF806, ZNG1B, ZRANB3, ZFP36L2, ZNF2, SLC35F5, SNRNP200, SNRNP27, SLC5A7, SLC9A4, SMPD4, SLC3A1, SLC4A5, SLC8A1, SLC9A2, PTPN18, PTPN4, PSD4, PSME4, RAB6C, RABL2A, RANBP2, PTCD3, PUS10, R3HDM1, RAB11FIP5, RAB1A, RAB3GAP1, RALB, SMYD1, SMYD5, NCAPH, NCK2, NIFK, NMS, NOTO, MZT2A, MZT2B, NAGK, NAT8B, NCKAP5, NFU1, MXD1, MYO7B, NAT8, LINC01873, LINC02898, LIPT1, KRCC1, KYNU, LMAN2L, LBX2, LCT, LIMS4, LONRF2, LGALSL, LHCGR, LIMS1, LIMS2, LIMS3, FOXN2, GNLY, GPAT2, GPR148, FSHR, GCC2, GCFC2, GFPT1, GGCX, GKN1, GKN2, GLI2, GMCL1, DBI, DGUOK, DNAAF10, DNAH6, DOK1, DCTN1, DDX18, CYP26B1, CYP27C1, DARS1, CXCR4, C2orf81, CALM2, C2orf49, C2orf78, C2orf68, C2orf73, C2orf42, C2orf27A, C2orf74, C2orf76, ACTG2, ACOXL, AAK1, ABCG5, ABCG8, ACMSD, ACTR1B, ACTR2, ACTR3, ACYP2, ADD2, ADRA2B, AFF3, AFTPH, ALMS1, AMER3, AMMECR1L, ANAPC1, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, ANKRD53, ANTXR1, ANXA4, APLF, ARHGAP15, ARHGAP25, ARHGEF4, ARID5A, ASB3, ASPRV1, ASTL, ATOH8, ATP6V1B1, ATP6V1E2, AUP1, B3GNT2, BCL11A, BCL2L11, BCYRN1, BIN1, BMP10, BOLA3, BUB1, C1D, CAMKMT, CAPG, CCDC115, CCDC138, CCDC142, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CCNT2, CCT4, CCT7, CD207, CD8A, CD8B, CDRT15P3, CEP68, CFAP36, CFC1, CFC1B, CHAC2, CHCHD5, CHMP3, CHST10, CIAO1, CKAP2L, CLASP1, CLEC4F, CLHC1, CNGA3, CNNM3, CNNM4, CNOT11, CNRIP1, CNTNAP5, COA5, COMMD1, COX5B, COX7A2L, CRACDL, CREG2, DPP10, DQX1, DUSP11, DUSP2, DYNC2LI1, DYSF, ECRG4, EDAR, EFEMP1, EGR4, EHBP1, EIF2AK3, EIF5B, ELMOD3, EML4, EML6, EMX1, EN1, EPAS1, EPB41L5, EPCAM, ERCC3, ERLEC1, ETAA1, EVA1A, EXOC6B, FABP1, FAHD2A, FAHD2B, FAM136A, FAM161A, FAM168B, FAM178B, FANCL, FBLN7, FBXO11, FBXO41, FBXO48, FER1L5, FHL2, FIGLA, FOXD4L1, GPR17, GPR39, GPR45, GPR75, GPR75-ASB3, GTDC1, GTF2A1L, GYPC, HAAO, HK2, HNMT, HS6ST1, HTRA2, IGKC, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1R1, IL1R2, IL1RL1, IL1RL2, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, IMMT, IMP4, INHBB, INO80B, INPP4A, INSIG2, ITPRIPL1, IWS1, KANSL3, KCMF1, KCNG3, KCNIP3, KCNK12, LOXL3, LRP1B, LRPPRC, LRRTM1, LRRTM4, LYG1, LYG2, LYPD1, M1AP, MAL, MALL, MAP3K19, MAP3K2, MAP4K4, MARCO, MAT2A, MCEE, MCFD2, MCM6, MDH1, MEIS1, MERTK, MFSD9, MGAT4A, MGAT5, MIR128-1, MIR216A, MIR217, MITD1, MOB1A, MOGS, MPHOSPH10, MRPL19, MRPL30, MRPL35, MRPL53, MRPS5, MRPS9, MSH2, MSH2-OT1, MSH6, NPAS2, NPHP1, NRXN1, NT5DC4, NXPH2, OTX1, OXER1, PAIP2B, PAPOLG, PAX8, PCBP1, PCGF1, PCYOX1, PDCL3, PELI1, PEX13, PIGF, PKDCC, PLEK, PLEKHB2, PLEKHH2, PLGLB1, PNO1, PNPT1, POLE4, POLR1A, POLR1B, POLR2D, POTEE, POTEF, POTEI, POTEJ, POU3F3, PPM1B, PPP1R21, PPP3R1, PPP4R3B, PRADC1, PREPL, PRKCE, PROC, PROKR1, REEP1, REG1A, REG1B, REG3A, REG3G, REL, RETSAT, REV1, RFX8, RGPD1, RGPD2, RGPD3, RGPD4, RGPD5, RGPD6, RGPD8, RHOQ, RMND5A, RNF103, RNF103-CHMP3, RNF149, RNF181, RNU4ATAC, RPIA, RPL31, RPS27A, RTKN, RTN4, SANBR, SAP130, SCTR, SEMA4C, SEMA4F, SEPTIN10, SERTAD2, SFT2D3, SFTPB, SFXN5, SH2D6, SIX2, SIX3, SLC1A4, SNRPG, SOCS5, SOWAHC, SPOPL, SPR, SPRED2, SPTBN1, SRBD1, ST3GAL5, ST6GAL2, STAMBP, STARD7, STEAP3, STON1, STON1-GTF2A1L, STPG4, SUCLG1, SULT1C2, SULT1C3, SULT1C4, TACR1, TBC1D8, TCF7L1, TEKT4, TET3, TEX261, TEX37, TFCP2L1, TGFA, TGFBRAP1, TGOLN2, THADA, THNSL2, THSD7B, TIA1, TLX2, TMEM127, TMEM131, TMEM150A, TMEM163, TMEM17, TMEM177, TMEM182, TMEM185B, TMEM247, TMEM37, TMEM87B, TMSB10, TRABD2A, TRIM43, TRIM43B, TSGA10, TSN, TSPYL6, TTC31, TTC7A, TTL, TUBA3D, TUBA3E, TXNDC9, UBXN4, UGGT1, UGP2, UNC50, USP34, USP39, UXS1, VAMP5, VAMP8, VAX2, VPS54, VRK2, VWA3B, WBP1, WDPCP, WDR33, WDR54, XPO1, ZAP70, ZC3H6 | | not provided | Likely pathogenic
(Feb 2, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr2:104172062-168223828
| ACMSD, ACOXL, ACTR3, ACVR1, ACVR1C, ACVR2A, AMER3, AMMECR1L, ANAPC1, ARHGAP15, ARHGEF4, ARL5A, ARL6IP6, BAZ2B, BCL2L11, BIN1, BUB1, C1QL2, C2orf27A, C2orf49, C2orf76, CACNB4, CCDC115, CCDC138, CCDC148, CCDC74A, CCDC74B, CCDC93, CCNT2, CD302, CDRT15P3, CFC1, CFC1B, CHCHD5, CKAP2L, CLASP1, CNTNAP5, COBLL1, CSRNP3, CXCR4, CYP27C1, CYTIP, DAPL1, DARS1, DBI, DDX18, DPP10, DPP4, ECRG4, EDAR, EN1, EPB41L5, EPC2, ERCC3, ERMN, FAM168B, FAP, FBLN7, FHL2, FIGN, FMNL2, FOXD4L1, GALNT13, GALNT3, GALNT5, GCA, GCC2, GCG, GLI2, GPD2, GPR148, GPR17, GPR39, GPR45, GRB14, GTDC1, GYPC, HNMT, HS6ST1, IFIH1, IL1A, IL1B, IL1F10, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, IMP4, INHBB, INSIG2, ITGB6, IWS1, KCNH7, KCNJ3, KYNU, LCT, LIMS1, LIMS2, LIMS3, LIMS4, LRP1B, LY75, LY75-CD302, LYPD1, LYPD6, LYPD6B, MALL, MAP3K19, MAP3K2, MARCHF7, MARCO, MBD5, MCM6, MERTK, MGAT5, MIR128-1, MMADHC, MRPS9, MYO7B, MZT2A, MZT2B, NCK2, NCKAP5, NEB, NIFK, NMI, NPHP1, NR4A2, NT5DC4, NXPH2, ORC4, PAX8, PKP4, PLA2R1, PLEKHB2, POLR1B, POLR2D, POTEE, POTEF, POTEI, POTEJ, POU3F3, PROC, PRPF40A, PSD4, PSMD14, PTPN18, PTPN4, R3HDM1, RAB3GAP1, RAB6C, RABL2A, RALB, RANBP2, RBM43, RBMS1, RGPD3, RGPD4, RGPD5, RGPD6, RGPD8, RIF1, RND3, RNU4ATAC, RPRM, SAP130, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, SEPTIN10, SFT2D3, SLC20A1, SLC35F5, SLC38A11, SLC4A10, SLC5A7, SMPD4, SOWAHC, SPOPL, ST6GAL2, STAM2, STEAP3, SULT1C2, SULT1C3, SULT1C4, TANC1, TANK, TBR1, TFCP2L1, TGFBRAP1, THSD7B, TMEM163, TMEM177, TMEM185B, TMEM37, TMEM87B, TNFAIP6, TSN, TTC21B, TTL, TUBA3D, TUBA3E, UBXN4, UGGT1, UPP2, UXS1, WDR33, WDSUB1, XIRP2, ZC3H6, ZC3H8, ZEB2, ZNF806, ZNG1B, ZRANB3 | | Poly (ADP-Ribose) polymerase inhibitor response | drug response
(Nov 27, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr2:12771-242783384
| COX5B, COX7A2L, CPO, CPS1, CPSF3, CRACDL, CREB1, CREG2, CRIM1, CRIPT, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CSRNP3, CTDSP1, CTLA4, CTNNA2, CUL3, CWC22, CXCR1, CXCR2, CXCR4, CYBRD1, CYP1B1, CYP20A1, CYP26B1, CYP27A1, CYP27C1, CYRIA, CYS1, CYTIP, D2HGDH, DAPL1, DARS1, DAW1, DBI, DCAF17, DCDC2C, DCTN1, DDX1, DDX18, DES, DGKD, DGUOK, DHRS9, DHX57, DIRC1, DIRC3, DIS3L2, DLX1, DLX2, DNAAF10, DNAH6, DNAH7, DNAJB2, DNAJB3, DNAJC10, DNAJC27, DNAJC5G, DNER, DNMT3A, DNPEP, DOCK10, DOK1, DPP10, DPP4, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTYMK, DUSP11, DUSP19, DUSP2, DUSP28, DYNC1I2, DYNC2LI1, DYSF, DYTN, E2F6, ECEL1, ECRG4, EDAR, EEF1B2, EFEMP1, EFHD1, EFR3B, EGR4, EHBP1, EHD3, EIF2AK2, EIF2AK3, EIF2B4, EIF4E2, EIF5B, EIPR1, ELMOD3, EMILIN1, EML4, EML6, EMX1, EN1, EPAS1, EPB41L5, EPC2, EPCAM, EPHA4, ERBB4, ERCC3, ERFE, ERICH2, ERLEC1, ERMN, ESPNL, ETAA1, EVA1A, EVX2, EXOC6B, FABP1, FAHD2A, FAHD2B, FAM110C, FAM117B, FAM124B, FAM136A, FAM161A, FAM166C, FAM168B, FAM171B, FAM178B, FAM228A, FAM228B, FAM98A, FANCL, FAP, FARP2, FARSB, FASTKD1, FASTKD2, FBLN7, FBXO11, FBXO36, FBXO41, FBXO48, FER1L5, FEV, FEZ2, FHL2, FIGLA, FIGN, FKBP1B, FKBP7, FLACC1, FMNL2, FN1, FNDC4, FOSL2, FOXD4L1, FOXI3, FOXN2, FRZB, FSHR, FSIP2, FTCDNL1, FZD5, FZD7, G6PC2, GAD1, GAL3ST2, GALM, GALNT13, GALNT14, GALNT3, GALNT5, GAREM2, GBX2, GCA, GCC2, GCFC2, GCG, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GIGYF2, GKN1, GKN2, GLB1L, GLI2, GLS, GMCL1, GMPPA, GNLY, GORASP2, GPAT2, GPATCH11, GPBAR1, GPC1, GPD2, GPN1, GPR148, GPR155, GPR17, GPR35, GPR39, GPR45, GPR55, GPR75, GPR75-ASB3, GRB14, GREB1, GRHL1, GTDC1, GTF2A1L, GTF3C2, GTF3C3, GULP1, GYPC, HAAO, HADHA, HADHB, HAT1, HDAC4, HDLBP, HEATR5B, HECW2, HES6, HIBCH, HJURP, HK2, HNMT, HNRNPA3, HNRNPLL, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HPCAL1, HS1BP3, HS6ST1, HSPD1, HSPE1, HTR2B, HTRA2, HYCC2, IAH1, ICA1L, ICOS, ID2, IDH1, IFIH1, IFT172, IFT70A, IFT70B, IGFBP2, IGFBP5, IGKC, IHH, IKZF2, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1R1, IL1R2, IL1RL1, IL1RL2, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, ILKAP, IMMT, IMP4, ING5, INHA, INHBB, INO80B, INO80D, INPP1, INPP4A, INSIG2, IQCA1, IRS1, ITGA4, ITGA6, ITGAV, ITGB1BP1, ITGB6, ITM2C, ITPRID2, ITPRIPL1, ITSN2, IWS1, KANSL1L, KANSL3, KCMF1, KCNE4, KCNF1, KCNG3, KCNH7, KCNIP3, KCNJ13, KCNJ3, KCNK12, KCNK3, KCNS3, KCTD18, KDM3A, KHK, KIDINS220, KIF1A, KIF3C, KLF11, KLF7, KLHL23, KLHL29, KLHL30, KLHL41, KRCC1, KRTCAP3, KYNU, LANCL1, LAPTM4A, LBH, LBX2, LCLAT1, LCT, LDAH, LGALSL, LHCGR, LIMS1, LIMS2, LIMS3, LIMS4, LINC00570, LINC01873, LINC02898, LIPT1, LMAN2L, LNPK, LOC100128563, LONRF2, LOXL3, LPIN1, LRATD1, LRP1B, LRP2, LRPPRC, LRRFIP1, LRRTM1, LRRTM4, LTBP1, LY75, LY75-CD302, LYG1, LYG2, LYPD1, LYPD6, LYPD6B, M1AP, MAB21L4, MAIP1, MAL, MALL, MAP2, MAP3K19, MAP3K2, MAP3K20, MAP4K3, MAP4K4, MAPRE3, MARCHF4, MARCHF7, MARCO, MARS2, MAT2A, MATN3, MBD5, MBOAT2, MCEE, MCFD2, MCM6, MDH1, MDH1B, MEIS1, MEMO1, MERTK, METAP1D, METTL21A, METTL5, METTL8, MFF, MFSD2B, MFSD6, MFSD9, MGAT4A, MGAT5, MIR10B, MIR1258, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, MIR375, MITD1, MLPH, MMADHC, MOB1A, MOB4, MOGAT1, MOGS, MORN2, MPHOSPH10, MPP4, MPV17, MREG, MROH2A, MRPL19, MRPL30, MRPL33, MRPL35, MRPL44, MRPL53, MRPS5, MRPS9, MSGN1, MSH2, MSH2-OT1, MSH6, MSTN, MTA3, MTERF4, MTHFD2, MTIF2, MTX2, MXD1, MYCN, MYCNOS, MYL1, MYO1B, MYO3B, MYO7B, MYT1L, MZT2A, MZT2B, NAB1, NABP1, NAGK, NAT8, NAT8B, NBAS, NBEAL1, NCAPH, NCK2, NCKAP1, NCKAP5, NCL, NCOA1, NDUFA10, NDUFAF7, NDUFB3, NDUFS1, NEB, NEMP2, NEU2, NEU4, NEUROD1, NFE2L2, NFU1, NGEF, NHEJ1, NIF3L1, NIFK, NLRC4, NMI, NMS, NMUR1, NOL10, NOP58, NOSTRIN, NOTO, NPAS2, NPHP1, NPPC, NR4A2, NRBP1, NRP2, NRXN1, NT5C1B, NT5C1B-RDH14, NT5DC4, NTSR2, NUP35, NXPH2, NYAP2, OBSL1, ODC1, OLA1, OR6B2, OR6B3, ORC2, ORC4, ORMDL1, OSBPL6, OSGEPL1, OSR1, OST4, OTOF, OTOS, OTX1, OXER1, PAIP2B, PAPOLG, PARD3B, PASK, PAX3, PAX8, PCARE, PCBP1, PCGEM1, PCGF1, PCYOX1, PDCL3, PDE11A, PDE1A, PDE6D, PDIA6, PDK1, PECR, PELI1, PER2, PEX13, PFN4, PGAP1, PHOSPHO2, PID1, PIGF, PIKFYVE, PJVK, PKDCC, PKP4, PLA2R1, PLB1, PLCD4, PLCL1, PLEK, PLEKHA3, PLEKHB2, PLEKHH2, PLEKHM3, PLGLB1, PMS1, PNKD, PNO1, PNPT1, POLE4, POLR1A, POLR1B, POLR2D, POMC, POTEE, POTEF, POTEI, POTEJ, POU3F3, PPIG, PPIL3, PPM1B, PPM1G, PPP1CB, PPP1R1C, PPP1R21, PPP1R7, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKAG3, PRKCE, PRKD3, PRKRA, PRLH, PROC, PROKR1, PROM2, PRPF40A, PRR21, PRR30, PRSS56, PSD4, PSMD1, PSMD14, PSME4, PTCD3, PTH2R, PTMA, PTPN18, PTPN4, PTPRN, PTRHD1, PUM2, PUS10, PXDN, QPCT, R3HDM1, RAB10, RAB11FIP5, RAB17, RAB1A, RAB3GAP1, RAB6C, RABL2A, RAD51AP2, RALB, RAMP1, RANBP2, RAPGEF4, RAPH1, RASGRP3, RBKS, RBM43, RBM44, RBM45, RBMS1, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, RESP18, RETREG2, RETSAT, REV1, RFTN2, RFX8, RGPD1, RGPD2, RGPD3, RGPD4, RGPD5, RGPD6, RGPD8, RHBDD1, RHOB, RHOQ, RIF1, RMDN2, RMND5A, RNASEH1, RND3, RNF103, RNF103-CHMP3, RNF144A, RNF149, RNF181, RNF25, RNPEPL1, RNU4ATAC, ROCK2, RPE, RPIA, RPL31, RPL37A, RPRM, RPS27A, RPS7, RRM2, RSAD2, RTKN, RTN4, RUFY4, SAG, SANBR, SAP130, SATB2, SCG2, SCLY, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SCTR, SDC1, SELENOI, SEMA4C, SEMA4F, SEPTIN10, SEPTIN2, SERPINE2, SERTAD2, SESTD1, SF3B1, SF3B6, SFT2D3, SFTPB, SFXN5, SGO2, SGPP2, SH2D6, SH3BP4, SH3YL1, SIX2, SIX3, SLC11A1, SLC16A14, SLC19A3, SLC1A4, SLC20A1, SLC23A3, SLC25A12, SLC30A3, SLC30A6, SLC35F5, SLC35F6, SLC38A11, SLC39A10, SLC3A1, SLC40A1, SLC4A10, SLC4A1AP, SLC4A3, SLC4A5, SLC5A6, SLC5A7, SLC66A3, SLC8A1, SLC9A2, |