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Items: 48

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
POMCProopiomelanocortin deficiencyPathogenic
(Feb 22, 2018)
no assertion criteria provided
2.
GRCh37:
Chr2:25383830
GRCh38:
Chr2:25160961
POMCProopiomelanocortin deficiency, Monogenic Non-Syndromic ObesityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr2:25383887
GRCh38:
Chr2:25161018
POMCProopiomelanocortin deficiency, Monogenic Non-Syndromic ObesityLikely benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr2:25383922
GRCh38:
Chr2:25161053
POMCProopiomelanocortin deficiency, Monogenic Non-Syndromic ObesityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr2:25384024
GRCh38:
Chr2:25161155
POMCnot providedUncertain significance
(Mar 20, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr2:25384113
GRCh38:
Chr2:25161244
POMCnot specifiedUncertain significance
(Jun 2, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr2:25384138
GRCh38:
Chr2:25161269
POMCnot providedUncertain significance
(Jul 18, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr2:25384150-25384155
GRCh38:
Chr2:25161281-25161286
POMCnot providedUncertain significance
(Nov 29, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr2:25384169
GRCh38:
Chr2:25161300
POMCProopiomelanocortin deficiency, Monogenic Non-Syndromic ObesityLikely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr2:25384280
GRCh38:
Chr2:25161411
POMCProopiomelanocortin deficiency, Monogenic Non-Syndromic ObesityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr2:25384324
GRCh38:
Chr2:25161455
POMCnot providedUncertain significance
(Mar 20, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr2:25384325
GRCh38:
Chr2:25161456
POMCnot providedUncertain significance
(Mar 27, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr2:25384355
GRCh38:
Chr2:25161486
POMCnot providedUncertain significance
(Feb 6, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr2:25384456-25384457
GRCh38:
Chr2:25161587-25161588
POMCObesityUncertain significance
(Jun 28, 2018)
no assertion criteria provided
15.
GRCh37:
Chr2:25384457-25384474
GRCh38:
Chr2:25161588-25161605
POMCnot providedUncertain significance
(Oct 4, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr2:25384457-25384465
GRCh38:
Chr2:25161588-25161596
POMCProopiomelanocortin deficiency, not specified, Monogenic Non-Syndromic Obesity
Benign/Likely benign
(Sep 26, 2017)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr2:25384460-25384461
GRCh38:
Chr2:25161591-25161592
POMCnot providedUncertain significance
(Sep 16, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr2:25384465
GRCh38:
Chr2:25161596
POMCnot specifiedUncertain significance
(Feb 1, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr2:25384472
GRCh38:
Chr2:25161603
POMCProopiomelanocortin deficiency, Monogenic Non-Syndromic ObesityLikely benign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr2:25384503
GRCh38:
Chr2:25161634
POMCnot providedPathogenic
(Mar 20, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr2:25384504
GRCh38:
Chr2:25161635
POMCnot specifiedUncertain significance
(Dec 27, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr2:25384529
GRCh38:
Chr2:25161660
POMCnot providedPathogenic
(Mar 20, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr2:25384596
GRCh38:
Chr2:25161727
POMCProopiomelanocortin deficiency, Monogenic Non-Syndromic ObesityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr2:25384623
GRCh38:
Chr2:25161754
POMCProopiomelanocortin deficiencyPathogenic
(Oct 12, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr2:25387587
GRCh38:
Chr2:25164718
POMCnot providedLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr2:25387621-25387622
GRCh38:
Chr2:25164752-25164753
POMCInborn genetic diseasesPathogenic
(Dec 26, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr2:25387621-25387622
GRCh38:
Chr2:25164752-25164753
POMCInborn genetic diseasesPathogeniccriteria provided, single submitter
28.
GRCh37:
Chr2:25387624
GRCh38:
Chr2:25164755
POMCProopiomelanocortin deficiency, Monogenic Non-Syndromic ObesityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr2:25387638
GRCh38:
Chr2:25164769
POMCProopiomelanocortin deficiency, Monogenic Non-Syndromic ObesityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr2:25388565
GRCh38:
Chr2:25165696
POMCProopiomelanocortin deficiency, Monogenic Non-Syndromic ObesityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr2:25388567
GRCh38:
Chr2:25165698
POMCProopiomelanocortin deficiency, Monogenic Non-Syndromic ObesityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr2:25391499
GRCh38:
Chr2:25168630
POMC, LOC108167315Proopiomelanocortin deficiency, Monogenic Non-Syndromic ObesityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr2:22665048-52850368
not providedPathogenic
(Jul 15, 2016)
no assertion criteria provided
34.
GRCh37:
Chr2:15672-243101834
AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPG, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5MC3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2, BOK, ZFP36L2, BUB1, CACNB4, CAD, CALM2, CAPG, CASP8, CASP10, CCNT2, CD8A, CD8B, CD28, CENPA, CHN1, CHRNA1, CHRND, CHRNG, CLK1, CNGA3, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COX5B, CPS1, CREB1, ATF2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CTNNA2, CYP1B1, CYP27A1, DARS, DBI, DCTN1, DDX1, DES, DGUOK, DLX1, DLX2, DNAH6, DYNC1I2, DNMT3A, DOK1, DPP4, DTNB, DTYMK, DUSP2, E2F6, EEF1B2, EGR4, EMX1, EN1, EPAS1, EPHA4, ERBB4, ERCC3, FABP1, ACSL3, FAP, EFEMP1, FHL2, FKBP1B, FN1, FOSL2, FRZB, FSHR, GAD1, GALNT3, GBX2, GCG, GCKR, MSTN, GFPT1, GGCX, GLI2, GLS, GPC1, GPD2, GPR1, GPR17, GPR35, GPR39, GRB14, MSH6, GTF3C2, GYPC, HADHA, HADHB, HDLBP, HK2, HNMT, TLX2, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HPCAL1, AGFG1, DNAJB2, HSPD1, HSPE1, FOXN2, HTR2B, ID2, IDH1, SP110, IGFBP2, IGFBP5, IGKC, IHH, IL1A, IL1B, IL1R1, IL1RN, CXCR1, CXCR2, INHA, INHBB, INPP1, INPP4A, ITGA6, IRS1, ITGA4, ITGAV, ITGB6, KCNF1, KCNJ3, KCNJ13, KCNK3, KCNS3, KHK, KIF3C, AFF3, LCT, LHCGR, LIMS1, LRP2, LTBP1, LY75, EPCAM, MXD1, MAL, MAP2, MAT2A, MATN3, MCM6, MDH1, MEIS1, MGAT5, MPV17, MYO1B, MSH2, MTIF2, MYCN, MYL1, MYO7B, NAB1, NCL, NEB, NDUFA10, NDUFB3, NDUFS1, SEPTIN2, NEU2, NEUROD1, NFE2L2, NPAS2, NPHP1, NPPC, NR4A2, ODC1, ORC2, ORC4, OTX1, REG3A, PAX3, PCBP1, PDCD1, PDE1A, PDE6D, PDK1, PEX13, VIT, SERPINE2, PIGF, PLCL1, PLEK, PLGLB1, PMS1, POLR2D, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R7, PPP3R1, PRKCE, EIF2AK2, PROC, PSMD1, PTH2R, PTMA, PTPN4, PTPRN, RAB1A, RALB, RANBP2, RBMS1, REL, REG1A, REG1B, SNORD20, RPE, RPL31, RPL37A, RPS7, RPS27A, RRM2, RTKN, SAG, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, CCL20, SDC1, SRSF7, SFTPB, SIX3, SLC4A3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC11A1, SLC20A1, SNRPG, SOS1, SOX11, SP3, SP100, SPAST, SPP2, SPR, SPTBN1, SRD5A2, SSB, ITPRID2, STAT1, STAT4, STRN, SULT1C2, ADAM17, TACR1, GCFC2, TFPI, TGFA, TIA1, TNFAIP6, TNP1, TNS1, TPO, TSN, EIPR1, TTN, TUBA4A, SUMO1, UCN, UGP2, VIL1, VRK2, VSNL1, WIPF1, WNT6, XDH, XPO1, XRCC5, ZAP70, ZNF2, ZNF142, SLC30A3, PXDN, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, FZD5, SCG2, DYSF, FZD7, CAVIN2, NCK2, DUSP11, CUL3, KLF11, MAP4K3, PKP4, HAT1, DGKD, AGPS, PRKRA, STK16, SLC25A12, KLF7, ABCB11, NCOA1, VAMP8, MARCO, B3GALT1, ADAM23, SUCLG1, IL18RAP, IL1RL2, IL18R1, NRP2, CFLAR, ASAP2, PER2, ST3GAL5, SLC5A6, DDX18, EIF2B4, CDK5R2, KYNU, TAF1B, NAT8, NMI, CNOT9, COX7A2L, TMSB10, IL1RL1, LRRFIP1, STK17B, ITGB1BP1, GPR55, TRIP12, GTF3C3, PPIG, NRXN1, OTOF, CIAO1, TGFBRAP1, HS6ST1, CRIPT, ECEL1, MAP4K4, EIF2AK3, EIF4E2, ROCK2, CHST10, TP53I3, CIR1, MRPL33, BABAM2, PREPL, CYTIP, FEZ2, GCC2, TTLL4, SOCS5, EIF5B, GREB1, BZW1, USP34, LAPTM4A, HDAC4, RNF144A, SNX17, SERTAD2, MRPL19, ZEB2, FARP2, TLK1, SUPT7L, CD302, ARHGAP25, TANK, BCL2L11, FARSB, ABCB6, ACTR3, ACTR2, ARPC2, PREB, ACTR1B, ARL4C, LRPPRC, PDIA6, ABI2, CEBPZ, DHRS9, TXNDC9, MPHOSPH10, CALCRL, PSMD14, STAM2, RAMP1, SPEG, LANCL1, NMUR1, SMYD5, KLHL41, MYCNOS, C1D, MERTK, UBE2E3, STK25, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, MTX2, CGREF1, B3GNT2, USP39, TBR1, SIX2, MAP3K2, NCKAP1, VAMP5, MTHFD2, ARID5A, PROKR1, RAB10, EDAR, COPS8, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, RAPGEF4, EMILIN1, CAPN10, TBC1D8, RABL2A, GALNT5, NXPH2, GPR45, SP140, MGAT4A, GPN1, IKZF2, COBLL1, AAK1, FASTKD2, MAPRE3, PLA2R1, RAB3GAP1, RPIA, SLC4A1AP, EFR3B, SNRNP200, MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCH4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCH7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B, TM4SF20, CYBRD1, MAB21L4, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, FAM49A, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, ECRG4, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, FLACC1, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, PQLC3, TMEM182, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPTIN10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, LRATD1, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, RTP5, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, RGPD4, DUSP28, STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, C2orf70, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, PCARE, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, HCG2040054, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570
not providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
35.
GRCh37:
Chr2:14238-243048760
AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPG, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5MC3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2, BOK, ZFP36L2, BUB1, CACNB4, CAD, CALM2, CAPG, CASP8, CASP10, CCNT2, CD8A, CD8B, CD28, CENPA, CHN1, CHRNA1, CHRND, CHRNG, CLK1, CNGA3, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COX5B, CPS1, CREB1, ATF2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CTNNA2, CYP1B1, CYP27A1, DARS, DBI, DCTN1, DDX1, DES, DGUOK, DLX1, DLX2, DNAH6, DYNC1I2, DNMT3A, DOK1, DPP4, DTNB, DTYMK, DUSP2, E2F6, EEF1B2, EGR4, EMX1, EN1, EPAS1, EPHA4, ERBB4, ERCC3, FABP1, ACSL3, FAP, EFEMP1, FHL2, FKBP1B, FN1, FOSL2, FRZB, FSHR, GAD1, GALNT3, GBX2, GCG, GCKR, MSTN, GFPT1, GGCX, GLI2, GLS, GPC1, GPD2, GPR1, GPR17, GPR35, GPR39, GRB14, MSH6, GTF3C2, GYPC, HADHA, HADHB, HDLBP, HK2, HNMT, TLX2, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HPCAL1, AGFG1, DNAJB2, HSPD1, HSPE1, FOXN2, HTR2B, ID2, IDH1, SP110, IGFBP2, IGFBP5, IGKC, IHH, IL1A, IL1B, IL1R1, IL1RN, CXCR1, CXCR2, INHA, INHBB, INPP1, INPP4A, ITGA6, IRS1, ITGA4, ITGAV, ITGB6, KCNF1, KCNJ3, KCNJ13, KCNK3, KCNS3, KHK, KIF3C, AFF3, LCT, LHCGR, LIMS1, LRP2, LTBP1, LY75, EPCAM, MXD1, MAL, MAP2, MAT2A, MATN3, MCM6, MDH1, MEIS1, MGAT5, MPV17, MYO1B, MSH2, MTIF2, MYCN, MYL1, MYO7B, NAB1, NCL, NEB, NDUFA10, NDUFB3, NDUFS1, SEPTIN2, NEU2, NEUROD1, NFE2L2, NPAS2, NPHP1, NPPC, NR4A2, ODC1, ORC2, ORC4, OTX1, REG3A, PAX3, PCBP1, PDCD1, PDE1A, PDE6D, PDK1, PEX13, VIT, SERPINE2, PIGF, PLCL1, PLEK, PLGLB1, PMS1, POLR2D, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R7, PPP3R1, PRKCE, EIF2AK2, PROC, PSMD1, PTH2R, PTMA, PTPN4, PTPRN, RAB1A, RALB, RANBP2, RBMS1, REL, REG1A, REG1B, SNORD20, RPE, RPL31, RPL37A, RPS7, RPS27A, RRM2, RTKN, SAG, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, CCL20, SDC1, SRSF7, SFTPB, SIX3, SLC4A3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC11A1, SLC20A1, SNRPG, SOS1, SOX11, SP3, SP100, SPAST, SPP2, SPR, SPTBN1, SRD5A2, SSB, ITPRID2, STAT1, STAT4, STRN, SULT1C2, ADAM17, TACR1, GCFC2, TFPI, TGFA, TIA1, TNFAIP6, TNP1, TNS1, TPO, TSN, EIPR1, TTN, TUBA4A, SUMO1, UCN, UGP2, VIL1, VRK2, VSNL1, WIPF1, WNT6, XDH, XPO1, XRCC5, ZAP70, ZNF2, ZNF142, SLC30A3, PXDN, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, FZD5, SCG2, DYSF, FZD7, CAVIN2, NCK2, DUSP11, CUL3, KLF11, MAP4K3, PKP4, HAT1, DGKD, AGPS, PRKRA, STK16, SLC25A12, KLF7, ABCB11, NCOA1, VAMP8, MARCO, B3GALT1, ADAM23, SUCLG1, IL18RAP, IL1RL2, IL18R1, NRP2, CFLAR, ASAP2, PER2, ST3GAL5, SLC5A6, DDX18, EIF2B4, CDK5R2, KYNU, TAF1B, NAT8, NMI, CNOT9, COX7A2L, TMSB10, IL1RL1, LRRFIP1, STK17B, ITGB1BP1, GPR55, TRIP12, GTF3C3, PPIG, NRXN1, OTOF, CIAO1, TGFBRAP1, HS6ST1, CRIPT, ECEL1, MAP4K4, EIF2AK3, EIF4E2, ROCK2, CHST10, TP53I3, CIR1, MRPL33, BABAM2, PREPL, CYTIP, FEZ2, GCC2, TTLL4, SOCS5, EIF5B, GREB1, BZW1, USP34, LAPTM4A, HDAC4, RNF144A, SNX17, SERTAD2, MRPL19, ZEB2, FARP2, TLK1, SUPT7L, CD302, ARHGAP25, TANK, BCL2L11, FARSB, ABCB6, ACTR3, ACTR2, ARPC2, PREB, ACTR1B, ARL4C, LRPPRC, PDIA6, ABI2, CEBPZ, DHRS9, TXNDC9, MPHOSPH10, CALCRL, PSMD14, STAM2, RAMP1, SPEG, LANCL1, NMUR1, SMYD5, KLHL41, MYCNOS, C1D, MERTK, UBE2E3, STK25, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, MTX2, CGREF1, B3GNT2, USP39, TBR1, SIX2, MAP3K2, NCKAP1, VAMP5, MTHFD2, ARID5A, PROKR1, RAB10, EDAR, COPS8, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, RAPGEF4, EMILIN1, CAPN10, TBC1D8, RABL2A, GALNT5, NXPH2, GPR45, SP140, MGAT4A, GPN1, IKZF2, COBLL1, AAK1, FASTKD2, MAPRE3, PLA2R1, RAB3GAP1, RPIA, SLC4A1AP, EFR3B, SNRNP200, MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCH4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCH7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B, TM4SF20, CYBRD1, MAB21L4, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, FAM49A, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, ECRG4, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, FLACC1, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, PQLC3, TMEM182, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPTIN10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, LRATD1, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, RTP5, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, RGPD4, DUSP28, STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, C2orf70, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, PCARE, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, HCG2040054, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
36.
GRCh37:
Chr2:24315204-26384655
not providedUncertain significance
(Jan 5, 2018)
no assertion criteria provided
37.
GRCh37:
Chr2:24807000-25700000
ADCY3, DNMT3A, DTNB, POMC, NCOA1, EFR3B, DNAJC27, CENPO, PTRHD1Seizures, Narrow nasal bridge, Mandibular prognathia,
Delayed speech and language development, Intrauterine growth retardation
Uncertain significance
(May 1, 2018)
no assertion criteria provided
38.
GRCh37:
Chr2:12771-242783384
AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPG, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5MC3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2, BOK, ZFP36L2, BUB1, CACNB4, CAD, CALM2, CAPG, CASP8, CASP10, CCNT2, CD8A, CD8B, CD28, CENPA, CHN1, CHRNA1, CHRND, CHRNG, CLK1, CNGA3, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COX5B, CPS1, CREB1, ATF2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CTNNA2, CYP1B1, CYP27A1, DARS, DBI, DCTN1, DDX1, DES, DGUOK, DLX1, DLX2, DNAH6, DYNC1I2, DNMT3A, DOK1, DPP4, DTNB, DTYMK, DUSP2, E2F6, EEF1B2, EGR4, EMX1, EN1, EPAS1, EPHA4, ERBB4, ERCC3, FABP1, ACSL3, FAP, EFEMP1, FHL2, FKBP1B, FN1, FOSL2, FRZB, FSHR, GAD1, GALNT3, GBX2, GCG, GCKR, MSTN, GFPT1, GGCX, GLI2, GLS, GPC1, GPD2, GPR1, GPR17, GPR35, GPR39, GRB14, MSH6, GTF3C2, GYPC, HADHA, HADHB, HDLBP, HK2, HNMT, TLX2, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HPCAL1, AGFG1, DNAJB2, HSPD1, HSPE1, FOXN2, HTR2B, ID2, IDH1, SP110, IGFBP2, IGFBP5, IGKC, IHH, IL1A, IL1B, IL1R1, IL1RN, CXCR1, CXCR2, INHA, INHBB, INPP1, INPP4A, ITGA6, IRS1, ITGA4, ITGAV, ITGB6, KCNF1, KCNJ3, KCNJ13, KCNK3, KCNS3, KHK, KIF3C, AFF3, LCT, LHCGR, LIMS1, LRP2, LTBP1, LY75, EPCAM, MXD1, MAL, MAP2, MAT2A, MATN3, MCM6, MDH1, MEIS1, MGAT5, MPV17, MYO1B, MSH2, MTIF2, MYCN, MYL1, MYO7B, NAB1, NCL, NEB, NDUFA10, NDUFB3, NDUFS1, SEPTIN2, NEU2, NEUROD1, NFE2L2, NPAS2, NPHP1, NPPC, NR4A2, ODC1, ORC2, ORC4, OTX1, REG3A, PAX3, PCBP1, PDE1A, PDE6D, PDK1, PEX13, VIT, SERPINE2, PIGF, PLCL1, PLEK, PLGLB1, PMS1, POLR2D, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R7, PPP3R1, PRKCE, EIF2AK2, PROC, PSMD1, PTH2R, PTMA, PTPN4, PTPRN, RAB1A, RALB, RANBP2, RBMS1, REL, REG1A, REG1B, SNORD20, RPE, RPL31, RPL37A, RPS7, RPS27A, RRM2, RTKN, SAG, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, CCL20, SDC1, SRSF7, SFTPB, SIX3, SLC4A3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC11A1, SLC20A1, SNRPG, SOS1, SOX11, SP3, SP100, SPAST, SPP2, SPR, SPTBN1, SRD5A2, SSB, ITPRID2, STAT1, STAT4, STRN, SULT1C2, ADAM17, TACR1, GCFC2, TFPI, TGFA, TIA1, TNFAIP6, TNP1, TNS1, TPO, TSN, EIPR1, TTN, TUBA4A, SUMO1, UCN, UGP2, VIL1, VRK2, VSNL1, WIPF1, WNT6, XDH, XPO1, XRCC5, ZAP70, ZNF2, ZNF142, SLC30A3, PXDN, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, FZD5, SCG2, DYSF, FZD7, CAVIN2, NCK2, DUSP11, CUL3, KLF11, MAP4K3, PKP4, HAT1, DGKD, AGPS, PRKRA, STK16, SLC25A12, KLF7, ABCB11, NCOA1, VAMP8, MARCO, B3GALT1, ADAM23, SUCLG1, IL18RAP, IL1RL2, IL18R1, NRP2, CFLAR, ASAP2, PER2, ST3GAL5, SLC5A6, DDX18, EIF2B4, CDK5R2, KYNU, TAF1B, NAT8, NMI, CNOT9, COX7A2L, TMSB10, IL1RL1, LRRFIP1, STK17B, ITGB1BP1, GPR55, TRIP12, GTF3C3, PPIG, NRXN1, OTOF, CIAO1, TGFBRAP1, HS6ST1, CRIPT, ECEL1, MAP4K4, EIF2AK3, EIF4E2, ROCK2, CHST10, TP53I3, CIR1, MRPL33, BABAM2, PREPL, CYTIP, FEZ2, GCC2, TTLL4, SOCS5, EIF5B, GREB1, BZW1, USP34, LAPTM4A, HDAC4, RNF144A, SNX17, SERTAD2, MRPL19, ZEB2, FARP2, TLK1, SUPT7L, CD302, ARHGAP25, TANK, BCL2L11, FARSB, ABCB6, ACTR3, ACTR2, ARPC2, PREB, ACTR1B, ARL4C, LRPPRC, PDIA6, ABI2, CEBPZ, DHRS9, TXNDC9, MPHOSPH10, CALCRL, PSMD14, STAM2, RAMP1, SPEG, LANCL1, NMUR1, SMYD5, KLHL41, MYCNOS, C1D, MERTK, UBE2E3, STK25, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, MTX2, CGREF1, B3GNT2, USP39, TBR1, SIX2, MAP3K2, NCKAP1, VAMP5, MTHFD2, ARID5A, PROKR1, RAB10, EDAR, COPS8, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, RAPGEF4, EMILIN1, CAPN10, TBC1D8, RABL2A, GALNT5, NXPH2, GPR45, SP140, MGAT4A, GPN1, IKZF2, COBLL1, AAK1, FASTKD2, MAPRE3, PLA2R1, RAB3GAP1, RPIA, SLC4A1AP, EFR3B, SNRNP200, MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCH4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCH7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B, TM4SF20, CYBRD1, MAB21L4, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, FAM49A, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, ECRG4, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, FLACC1, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, PQLC3, TMEM182, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPTIN10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, LRATD1, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, RGPD4, DUSP28, STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, C2orf70, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, PCARE, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, HCG2040054, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
39.
GRCh37:
Chr2:12771-242783384
AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPG, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5MC3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2, BOK, ZFP36L2, BUB1, CACNB4, CAD, CALM2, CAPG, CASP8, CASP10, CCNT2, CD8A, CD8B, CD28, CENPA, CHN1, CHRNA1, CHRND, CHRNG, CLK1, CNGA3, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COX5B, CPS1, CREB1, ATF2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CTNNA2, CYP1B1, CYP27A1, DARS, DBI, DCTN1, DDX1, DES, DGUOK, DLX1, DLX2, DNAH6, DYNC1I2, DNMT3A, DOK1, DPP4, DTNB, DTYMK, DUSP2, E2F6, EEF1B2, EGR4, EMX1, EN1, EPAS1, EPHA4, ERBB4, ERCC3, FABP1, ACSL3, FAP, EFEMP1, FHL2, FKBP1B, FN1, FOSL2, FRZB, FSHR, GAD1, GALNT3, GBX2, GCG, GCKR, MSTN, GFPT1, GGCX, GLI2, GLS, GPC1, GPD2, GPR1, GPR17, GPR35, GPR39, GRB14, MSH6, GTF3C2, GYPC, HADHA, HADHB, HDLBP, HK2, HNMT, TLX2, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HPCAL1, AGFG1, DNAJB2, HSPD1, HSPE1, FOXN2, HTR2B, ID2, IDH1, SP110, IGFBP2, IGFBP5, IGKC, IHH, IL1A, IL1B, IL1R1, IL1RN, CXCR1, CXCR2, INHA, INHBB, INPP1, INPP4A, ITGA6, IRS1, ITGA4, ITGAV, ITGB6, KCNF1, KCNJ3, KCNJ13, KCNK3, KCNS3, KHK, KIF3C, AFF3, LCT, LHCGR, LIMS1, LRP2, LTBP1, LY75, EPCAM, MXD1, MAL, MAP2, MAT2A, MATN3, MCM6, MDH1, MEIS1, MGAT5, MPV17, MYO1B, MSH2, MTIF2, MYCN, MYL1, MYO7B, NAB1, NCL, NEB, NDUFA10, NDUFB3, NDUFS1, SEPTIN2, NEU2, NEUROD1, NFE2L2, NPAS2, NPHP1, NPPC, NR4A2, ODC1, ORC2, ORC4, OTX1, REG3A, PAX3, PCBP1, PDE1A, PDE6D, PDK1, PEX13, VIT, SERPINE2, PIGF, PLCL1, PLEK, PLGLB1, PMS1, POLR2D, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R7, PPP3R1, PRKCE, EIF2AK2, PROC, PSMD1, PTH2R, PTMA, PTPN4, PTPRN, RAB1A, RALB, RANBP2, RBMS1, REL, REG1A, REG1B, SNORD20, RPE, RPL31, RPL37A, RPS7, RPS27A, RRM2, RTKN, SAG, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, CCL20, SDC1, SRSF7, SFTPB, SIX3, SLC4A3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC11A1, SLC20A1, SNRPG, SOS1, SOX11, SP3, SP100, SPAST, SPP2, SPR, SPTBN1, SRD5A2, SSB, ITPRID2, STAT1, STAT4, STRN, SULT1C2, ADAM17, TACR1, GCFC2, TFPI, TGFA, TIA1, TNFAIP6, TNP1, TNS1, TPO, TSN, EIPR1, TTN, TUBA4A, SUMO1, UCN, UGP2, VIL1, VRK2, VSNL1, WIPF1, WNT6, XDH, XPO1, XRCC5, ZAP70, ZNF2, ZNF142, SLC30A3, PXDN, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, FZD5, SCG2, DYSF, FZD7, CAVIN2, NCK2, DUSP11, CUL3, KLF11, MAP4K3, PKP4, HAT1, DGKD, AGPS, PRKRA, STK16, SLC25A12, KLF7, ABCB11, NCOA1, VAMP8, MARCO, B3GALT1, ADAM23, SUCLG1, IL18RAP, IL1RL2, IL18R1, NRP2, CFLAR, ASAP2, PER2, ST3GAL5, SLC5A6, DDX18, EIF2B4, CDK5R2, KYNU, TAF1B, NAT8, NMI, CNOT9, COX7A2L, TMSB10, IL1RL1, LRRFIP1, STK17B, ITGB1BP1, GPR55, TRIP12, GTF3C3, PPIG, NRXN1, OTOF, CIAO1, TGFBRAP1, HS6ST1, CRIPT, ECEL1, MAP4K4, EIF2AK3, EIF4E2, ROCK2, CHST10, TP53I3, CIR1, MRPL33, BABAM2, PREPL, CYTIP, FEZ2, GCC2, TTLL4, SOCS5, EIF5B, GREB1, BZW1, USP34, LAPTM4A, HDAC4, RNF144A, SNX17, SERTAD2, MRPL19, ZEB2, FARP2, TLK1, SUPT7L, CD302, ARHGAP25, TANK, BCL2L11, FARSB, ABCB6, ACTR3, ACTR2, ARPC2, PREB, ACTR1B, ARL4C, LRPPRC, PDIA6, ABI2, CEBPZ, DHRS9, TXNDC9, MPHOSPH10, CALCRL, PSMD14, STAM2, RAMP1, SPEG, LANCL1, NMUR1, SMYD5, KLHL41, MYCNOS, C1D, MERTK, UBE2E3, STK25, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, MTX2, CGREF1, B3GNT2, USP39, TBR1, SIX2, MAP3K2, NCKAP1, VAMP5, MTHFD2, ARID5A, PROKR1, RAB10, EDAR, COPS8, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, RAPGEF4, EMILIN1, CAPN10, TBC1D8, RABL2A, GALNT5, NXPH2, GPR45, SP140, MGAT4A, GPN1, IKZF2, COBLL1, AAK1, FASTKD2, MAPRE3, PLA2R1, RAB3GAP1, RPIA, SLC4A1AP, EFR3B, SNRNP200, MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCH4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCH7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B, TM4SF20, CYBRD1, MAB21L4, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, FAM49A, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, ECRG4, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, FLACC1, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, PQLC3, TMEM182, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPTIN10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, LRATD1, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, RGPD4, DUSP28, STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, C2orf70, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, PCARE, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, HCG2040054, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
40.
GRCh37:
Chr2:24235780-25700427
not providednot providedno assertion provided
41.
GRCh37:
Chr2:236816-46210371
GRCh38:
Chr2:236816-45983232
ACP1, ADCY3, ALK, APOB, RHOB, ZFP36L2, CAD, CENPA, CYP1B1, DDX1, DNMT3A, DTNB, E2F6, FKBP1B, FOSL2, GCKR, GTF3C2, HADHA, HADHB, HPCAL1, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, LTBP1, MATN3, MPV17, MYCN, ODC1, VIT, POMC, PPM1B, PPM1G, PPP1CB, PRKCE, EIF2AK2, RPS7, RRM2, SDC1, SRSF7, SIX3, SLC3A1, SLC8A1, SOS1, SOX11, SPAST, SRD5A2, STRN, ADAM17, TPO, EIPR1, UCN, VSNL1, XDH, SLC30A3, PXDN, KLF11, MAP4K3, NCOA1, ASAP2, SLC5A6, EIF2B4, TAF1B, COX7A2L, ITGB1BP1, OTOF, ROCK2, TP53I3, MRPL33, BABAM2, PREPL, FEZ2, GREB1, LAPTM4A, RNF144A, SNX17, SUPT7L, PREB, LRPPRC, PDIA6, CEBPZ, MYCNOS, CDC42EP3, CGREF1, SIX2, RAB10, YWHAQ, EMILIN1, GPN1, MAPRE3, SLC4A1AP, EFR3B, MYT1L, WDR43, LPIN1, PUM2, HAAO, NTSR2, PRKD3, RASGRP3, QPCT, FAM98A, IFT172, SH3YL1, SNORD53, EML4, TRIB2, GRHL1, NRBP1, EHD3, ITSN2, MEMO1, TRAPPC12, CRIM1, DNAJC27, ATRAID, NBAS, DYNC2LI1, SF3B6, YPEL5, CPSF3, SNTG2, ATAD2B, HEATR5B, TMEM214, SLC35F6, TRMT61B, SRBD1, ASXL2, ADI1, NDUFAF7, TTC27, SLC30A6, ALLC, DPYSL5, TRIM54, BIRC6, KIDINS220, MTA3, WDR35, RDH14, NLRC4, AGBL5, LDAH, THADA, RBKS, ATL2, ABCG5, ABCG8, HS1BP3, FNDC4, COLEC11, CENPO, GALNT14, CCDC121, SMC6, CLIP4, CAMKMT, GEMIN6, NOL10, WDCP, THUMPD2, FAM49A, LBH, C2orf16, YIPF4, ZNF512, DPY30, ABHD1, SELENOI, DHX57, PKDCC, RSAD2, CAPN13, DRC1, HNRNPLL, NT5C1B, KLHL29, CMPK2, MBOAT2, TMEM18, CIB4, PLEKHH2, OSR1, TTC32, ZNF513, GALM, TMEM178A, C2orf50, PQLC3, SILC1, TCF23, GAREM2, PLB1, LRATD1, RMDN2, GDF7, ADGRF3, OXER1, TOGARAM2, UBXN2A, KCNG3, CYS1, KRTCAP3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, ALKAL2, LINC01936, LINC00486, DNAJC5G, IAH1, FLJ33534, CYP1B1-AS1, C2orf70, PRR30, LINC00298, LINC00299, LINC01115, MSGN1, CDKL4, GEN1, C2orf48, PFN4, FAM228B, LOC375196, RNF144A-AS1, MFSD2B, PCARE, LINC01913, PTRHD1, SULT6B1, LOC400940, LINC00487, LINC01376, LINC00954, C2orf91, LINC01121, FLJ31356, CAPN14, LINC01822, FAM228A, LOC653602, SNORD92, MIR558, LINC01874, LINC01249, DCDC2C, MAP4K3-DT, C1GALT1C1L, RAD51AP2, DNAJC27-AS1, MORN2, MYT1L-AS1, TRA-AGC8-1, SLC8A1-AS1, OST4, TDRD15, LOC100129724, LINC01126, LINC01460, TRY-GTA2-1, TRI-TAT2-1, ARHGEF33, LOC100271832, CRIM1-DT, MIR1301, BABAM2-AS1, SNORA80B, MIR548S, MIR4261, MIR4263, MIR3125, MIR4262, LINC00276, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, LOC100505774, CEBPZOS, SOS1-IT1, LINC01304, LINC02580, RNASEH1-AS1, SIX3-AS1, LOC100506274, ID2-AS1, MIR3681HG, LOC100506474, NT5C1B-RDH14, MIR4430, MIR4765, MIR4757, MIR4429, MIR548AD, AGBL5-AS1, LINC00570, HS1BP3-IT1, LINC01883, LINC01939, SNTG2-AS1, RMDN2-AS1, LINC01804, LINC01875, LINC01250, LOC101928222, LINC01247, LOC101929452, LINC01871, LOC101929551, LINC00211, LINC01814, LINC02613, LINC01794, ODC1-DT, LINC01914, LINC01954, LOC101929882, MIR7158, MIR7515, LINC01884, LINC01248, LOC102723824, LINC01819, MIR7515HG, LINC01246, MYCNUT, BIRC6-AS2, NRIR, LINC01317, LINC01320, GACAT3, LINC01865, LOC105373352, LOC105373394, LINC01810, LINC01808, LINC01830, LOC105374378, LOC105374389, LINC01946, LOC105374454, LINC01381, LINC01318, LOC106560211, APOB3'MAR, APOB-ICR, LOC106728414, LOC107457596, LOC107985837, LOC107985856, LINC01833, LOC108167315, LOC108281152, SNORA10B, SNORD53B, LOC110120598, LOC110120665, LOC110120696, LOC110121045, LOC110121085, LOC110121122, LOC110121127, LOC110121131, LOC110121222, LOC110121308, LOC110599580, LOC111465020, LOC111556161, LOC111811968, LOC111828513
See casesPathogenic
(Nov 19, 2013)
no assertion criteria provided
42.
GRCh37:
Chr2:25336135-25841368
GRCh38:
Chr2:25113266-25618499
DNMT3A, DTNB, POMC, EFR3B, MIR1301, LINC01381, LOC106728414, LOC108167315See casesUncertain significance
(Aug 14, 2012)
no assertion criteria provided
43.
GRCh37:
Chr2:22802524-28748053
GRCh38:
Chr2:22579652-28525186