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Items: 57

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:175664107-175664110
GRCh38:
Chr2:174799379-174799382
CHN1Duane's syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr2:175664153-175664157
GRCh38:
Chr2:174799425-174799429
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr2:175664167
GRCh38:
Chr2:174799439
CHN1Duane's syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr2:175664176
GRCh38:
Chr2:174799448
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr2:175664201
GRCh38:
Chr2:174799473
CHN1Duane's syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr2:175664236
GRCh38:
Chr2:174799508
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr2:175664630
GRCh38:
Chr2:174799902
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr2:175664690
GRCh38:
Chr2:174799962
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr2:175664816
GRCh38:
Chr2:174800088
CHN1Duane's syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr2:175664882
GRCh38:
Chr2:174800154
CHN1not specifiedUncertain significance
(Jul 28, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr2:175664905
GRCh38:
Chr2:174800177
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr2:175664909
GRCh38:
Chr2:174800181
CHN1not specifiedUncertain significance
(Feb 7, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr2:175664923
GRCh38:
Chr2:174800195
CHN1not providednot providedno assertion provided
14.
GRCh37:
Chr2:175676233
GRCh38:
Chr2:174811505
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr2:175676266
GRCh38:
Chr2:174811538
CHN1Duane syndrome type 2Pathogenic
(Aug 8, 2008)
no assertion criteria provided
16.
GRCh37:
Chr2:175677022
GRCh38:
Chr2:174812294
CHN1Duane's syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr2:175677168
GRCh38:
Chr2:174812440
CHN1Duane syndrome type 2Pathogenic
(Aug 8, 2008)
no assertion criteria provided
18.
GRCh37:
Chr2:175677169
GRCh38:
Chr2:174812441
CHN1Duane syndrome type 2Pathogenic
(May 1, 2011)
no assertion criteria provided
19.
GRCh37:
Chr2:175689192
GRCh38:
Chr2:174824464
CHN1Duane syndrome type 2Pathogenic
(Aug 8, 2008)
no assertion criteria provided
20.
GRCh37:
Chr2:175689206
GRCh38:
Chr2:174824478
CHN1Duane syndrome type 2Pathogenic
(Aug 8, 2008)
no assertion criteria provided
21.
GRCh37:
Chr2:175689250
GRCh38:
Chr2:174824522
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr2:175689260-175689261
GRCh38:
Chr2:174824532-174824533
CHN1Duane's syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr2:175689261
GRCh38:
Chr2:174824533
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr2:175742617
GRCh38:
Chr2:174877889
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr2:175742685
GRCh38:
Chr2:174877957
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr2:175742690
GRCh38:
Chr2:174877962
CHN1Duane syndrome type 2Pathogenic
(Aug 8, 2008)
no assertion criteria provided
27.
GRCh37:
Chr2:175742695
GRCh38:
Chr2:174877967
CHN1Duane syndrome type 2Pathogenic
(May 1, 2011)
no assertion criteria provided
28.
GRCh37:
Chr2:175742739
GRCh38:
Chr2:174878011
CHN1Duane syndrome type 2Pathogenic
(Aug 8, 2008)
no assertion criteria provided
29.
GRCh37:
Chr2:175809670
GRCh38:
Chr2:174944942
CHN1Duane syndrome type 2Pathogenic
(Aug 8, 2008)
no assertion criteria provided
30.
GRCh37:
Chr2:175869676
GRCh38:
Chr2:175004948
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr2:175869708
GRCh38:
Chr2:175004980
CHN1Duane's syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr2:175869714
GRCh38:
Chr2:175004986
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr2:175869744
GRCh38:
Chr2:175005016
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr2:175869800
GRCh38:
Chr2:175005072
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr2:175869911
GRCh38:
Chr2:175005183
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr2:175869938
GRCh38:
Chr2:175005210
CHN1Duane's syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr2:174783555-176832848
See casesUncertain significance
(Dec 2, 2014)
no assertion criteria provided
38.
GRCh37:
Chr2:12771-242783384
AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPPL2, 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, SEPT2, 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, SSFA2, 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, C2orf54, 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, C2orf40, 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, ALS2CR12, 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, SEPT10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, FAM84A, 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, C2orf71, 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, ALPPL2, 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, SEPT2, 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, SSFA2, 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, C2orf54, 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, C2orf40, 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, ALS2CR12, 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, SEPT10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, FAM84A, 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, C2orf71, 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:
Chr2:169829974-215521436
ACADL, AOX1, ATP5MC3, BMPR2, CASP8, CASP10, CD28, CHN1, CHRNA1, CLK1, COL3A1, COL5A2, CPS1, CREB1, ATF2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, DLX1, DLX2, DYNC1I2, EEF1B2, ERBB4, FRZB, GAD1, MSTN, GLS, GPR1, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HSPD1, HSPE1, IDH1, INPP1, ITGA6, ITGA4, ITGAV, LRP2, MAP2, MYO1B, MYL1, NAB1, NDUFB3, NDUFS1, NEUROD1, NFE2L2, ORC2, PDE1A, PDK1, PLCL1, PMS1, PTH2R, RPE, SP3, SSB, SSFA2, STAT1, STAT4, TFPI, TTN, SUMO1, WIPF1, FZD5, FZD7, CAVIN2, HAT1, AGPS, PRKRA, SLC25A12, KLF7, ABCB11, ADAM23, NRP2, CFLAR, STK17B, GTF3C3, PPIG, CIR1, BZW1, TLK1, ABI2, DHRS9, CALCRL, LANCL1, KLHL41, UBE2E3, MTX2, NCKAP1, RAPGEF4, IKZF2, FASTKD2, SATB2, SF3B1, TMEFF2, MOB4, GORASP2, SPATS2L, HIBCH, METTL5, OLA1, ICOS, SLC40A1, PDE11A, GULP1, NOP58, FKBP7, MAP3K20, PPIL3, DNAJC10, ASNSD1, MFSD6, INO80D, STRADB, WDR12, ZC3H15, DNAH7, SLC39A10, CYP20A1, HECW2, ALS2, ZDBF2, CWC22, MPP4, NIF3L1, PCGEM1, OSGEPL1, NABP1, RAPH1, CDK15, TMEM237, NBEAL1, PLEKHA3, TRAK2, BOLL, MAIP1, SPAG16, SCRN3, FASTKD1, CARF, METTL8, CYBRD1, PGAP1, DCAF17, COQ10B, LNPK, CDCA7, WDR75, C2orf88, SESTD1, ANKRD44, ZNF804A, TTC30A, MARS2, ORMDL1, OSBPL6, DIRC1, PARD3B, NUP35, TYW5, RBM45, BBS5, CCDC173, ICA1L, RFTN2, UBR3, KCTD18, ALS2CR12, CPO, MDH1B, MYO3B, DUSP19, ANKAR, TTC30B, FAM117B, KANSL1L, ZSWIM2, ZNF385B, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, GPR155, FAM171B, PIKFYVE, C2orf69, HNRNPA3, METAP1D, CCDC150, CCDC141, ERICH2, FAM126B, UNC80, EVX2, FTCDNL1, CERKL, SP5, PLEKHM3, C2orf80, DYTN, FSIP2, C2orf66, VWC2L, MIR10B, PHOSPHO2, PJVK, NEMP2, SP9, MIR1258
See casesPathogenicno assertion criteria provided
41.
GRCh37:
Chr2:156489430-182921298
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr2:174586724-176423918
See casesLikely pathogenic
(Jan 20, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr2:175101179-182053573
GRCh38:
Chr2:174236451-181188846
See casesPathogenic
(Sep 18, 2013)
no assertion criteria provided
44.
GRCh37:
Chr2:174578566-176332190
GRCh38:
Chr2:173713838-175467462
See casesPathogenic
(Sep 27, 2013)
no assertion criteria provided
45.
GRCh37:
Chr2:155150555-176854100
GRCh38:
Chr2:154294042-175989372
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
46.
GRCh37:
Chr2:172369557-178718807
GRCh38:
Chr2:171513047-177854080
See casesPathogenic
(Jun 18, 2012)
no assertion criteria provided
47.
GRCh37:
Chr2:174578566-176332190
GRCh38:
Chr2:173713838-175467462
See casesconflicting data from submitters
(Jul 2, 2012)
no assertion criteria provided
48.
GRCh37:
Chr2:175499230-189865690
GRCh38:
Chr2:174634502-189000964
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
49.
GRCh37:
Chr2:172285743-190044294
GRCh38:
Chr2:171429233-189179568
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
50.
GRCh37:
Chr2:171264198-187054621
GRCh38:
Chr2:170407688-186189894
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
51.
GRCh37:
Chr2:164821892-183059789
GRCh38:
Chr2:163965382-182195062
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
52.
GRCh37:
Chr2:174564007-176450798
GRCh38:
Chr2:173699279-175586070
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
53.
GRCh37:
Chr2:174272789-178567215
GRCh38:
Chr2:173408061-177702487
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
54.
GRCh37:
Chr2:173231480-177225915
GRCh38:
Chr2:172366752-176361187
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
55.
GRCh37:
Chr2:165706627-176423918
GRCh38:
Chr2:164850117-175559190
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
56.
GRCh37:
Chr2:175763576-204806271
GRCh38:
Chr2:174898848-203941548
AOX1, ATP5MC3, BMPR2, CASP8, CASP10, CD28, CHN1, CLK1, COL3A1, COL5A2, ATF2, CTLA4, FRZB, MSTN, GLS, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HSPD1, HSPE1, INPP1, ITGA4, ITGAV, MYO1B, NAB1, NDUFB3, NEUROD1, NFE2L2, ORC2, PDE1A, PLCL1, PMS1, SSFA2, STAT1, STAT4, TFPI, TTN, SUMO1, FZD7, CAVIN2, AGPS, PRKRA, CFLAR, STK17B, GTF3C3, BZW1, ABI2, CALCRL, UBE2E3, MTX2, NCKAP1, SATB2, SF3B1, TMEFF2, MOB4, SPATS2L, HIBCH, ICOS, SLC40A1, PDE11A, GULP1, NOP58, FKBP7, PPIL3, DNAJC10, ASNSD1, MFSD6, STRADB, WDR12, ZC3H15, DNAH7, SLC39A10, CYP20A1, HECW2, ALS2, CWC22, MPP4, NIF3L1, PCGEM1, OSGEPL1, NABP1, RAPH1, CDK15, TMEM237, NBEAL1, CFLAR-AS1, PLEKHA3, TRAK2, BOLL, MAIP1, CARF, PGAP1, COQ10B, LNPK, WDR75, C2orf88, SESTD1, ANKRD44, ZNF804A, TTC30A, MARS2, ORMDL1, OSBPL6, DIRC1, NUP35, TYW5, RBM45, ICA1L, RFTN2, KCTD18, ALS2CR12, DUSP19, SATB2-AS1, ANKAR, TTC30B, FAM117B, ZSWIM2, ZNF385B, PPP1R1C, SGO2, C2CD6, FAM171B, C2orf69, HNRNPA3, CCDC150, CCDC141, FAM126B, EVX2, FTCDNL1, LINC01116, CERKL, LOC401021, HAGLR, FSIP2, C2orf66, MIR10B, PJVK, SNORD11, SNORD70, MIR561, LOC729224, SNORD11B, MIR933, LOC100130452, LOC100130691, NEMP2, MIR1246, MIR1258, MIR1245A, MIR3128, MIR3129, MIR3606, HOXD-AS2, TTN-AS1, LINC01792, HSPE1-MOB4, MIR4437, MIR548AE1, MIR1245B, MIR4444-1, KIAA2012, OSGEPL1-AS1, SCHLAP1, LOC101927027, LOC101927055, LINC01934, LOC101927196, LINC01473, LINC01821, LINC01790, LOC101927482, ANKRD44-IT1, LOC101927596, LINC01923, LINC01877, LOC101927795, MIR6512, MIR7704, LINC01117, HAGLROS, LINC01090, LOC105373764, LOC105373782, LOC105373805, LINC01827, LOC105747689, SNORA105B, LOC107126359, FSIP2-AS1, LOC108281145, LOC108281167, LOC108353821, SNORD70B, LOC110120627, LOC110120628, ASDURF
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
57.
GRCh37:
Chr2:173644604-178462728
GRCh38:
Chr2:172779876-177598000
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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