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Items: 77

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationLikely pathogenic
(Oct 16, 2018)
criteria provided, single submitterVCV000666590
2.
GRCh37:
Chr10:94368777-94369266
GRCh38:
Chr10:92609020-92609509
KIF11not providedPathogenic
(Jul 27, 2018)
criteria provided, single submitterVCV000659601
3.
GRCh37:
Chr10:94393383-97219175
not providedLikely pathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625558
4.
GRCh37:
Chr10:94353209
GRCh38:
Chr10:92593452
KIF11R26Inot providedUncertain significance
(Sep 30, 2018)
criteria provided, single submitterVCV000623749
5.
GRCh37:
Chr10:98087-135477883
HSPA14, PLCE1, DUSP13, WAC, CHST15, SUFU, ACSL5, CALML5, PANK1, FXYD4, MYO3A, CCSER2, APBB1IP, ANKRD16, EXOC6, SHLD2, DDIT4, CCNJ, MARCHF5, ZRANB1, CFAP46, NSMCE4A, DNAJB12, CNNM2, WBP1L, TASOR2, CCDC186, CRTAC1, ARMC4, MTPAP, CEP55, SEC61A2, LRRC20, CWF19L1, OLAH, SLC29A3, RNLS, PI4K2A, MCM10, CSGALNACT2, MACROH2A2, DHTKD1, HIF1AN, RUFY2, FRMD4A, WDR11, SLF2, CCAR1, OGDHL, DHX32, PPP2R2D, CISD1, TDRD1, KIAA1217, PARD3, DNAJC12, ASAH2, BCCIP, TWNK, SAR1A, TM9SF3, PRTFDC1, ENTPD7, CAMK1D, ZMIZ1, ZNF248, AS3MT, GPR158, STAMBPL1, ARHGAP21, JCAD, GPAM, SHTN1, FAM160B1, WDFY4, SFMBT2, SEMA4G, ARHGAP22, MYOZ1, PLEKHA1, AVPI1, HPSE2, FAM204A, CDH23, LHPP, PBLD, NPFFR1, VSIR, MMS19, DNAJC1, NOC3L, IKZF5, DCLRE1C, ZDHHC6, PCDH15, CUEDC2, DDX50, FBXL15, OR13A1, ARMH3, SUV39H2, CCDC7, ECHDC3, ASB13, HPS6, MMRN2, MFSD13A, TUBAL3, MCMBP, THNSL1, SYNPO2L, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, MINDY3, UBTD1, BICC1, TMEM254, HKDC1, CFAP43, TET1, LRRC27, EPC1, TNKS2, ITIH5, TRIM8, TSPAN14, KAZALD1, SFXN3, SLC25A28, ELOVL3, AKR1E2, FAM107B, CCDC3, MARVELD1, SYT15, TAF3, RASSF4, LRMDA, PCGF6, ARID5B, LOXL4, ZDHHC16, PRXL2A, DYDC2, PCGF5, ADGRA1, LZTS2, PHYHIPL, LCOR, NKX6-2, MRPL43, LYZL1, AFAP1L2, PLA2G12B, MYPN, PYROXD2, ATP5MD, ZNF503, AIFM2, ADO, FBH1, ATAD1, PLXDC2, MASTL, ARHGAP19, RBM17, KNDC1, ITPRIP, MCU, ANKRD30A, ACBD5, IDI2, MTG1, CDHR1, BBIP1, FANK1, OPALIN, SYCE1, ZFAND4, ARHGAP12, OPN4, HOGA1, UCN3, SORCS1, C10orf71, PRAP1, ZNF511, CHCHD1, MSS51, CFAP70, C10orf90, BTBD16, FAM24A, PSTK, ZNF488, PIK3AP1, MORN4, ZFYVE27, MMP21, COMTD1, FRA10AC1, ANKRD22, SFXN2, PDZD8, AGAP4, BORCS7, LYZL2, AGAP11, GSTO2, SFR1, CALHM3, CLRN3, ANAPC16, PNLIPRP3, SFXN4, CPXM2, ADAMTS14, ACSM6, SAMD8, LIPJ, TRUB1, MPP7, FRMPD2, VTI1A, DYDC1, EIF5AL1, HECTD2, FGFBP3, C10orf82, CACUL1, USP54, NKX2-3, SLC35G1, CFAP58, FAM170B, TMEM273, FUT11, OIT3, LINC02870, PWWP2B, EMX2OS, PLPP4, VSTM4, PAOX, FAM24B, PLAC9, CABCOCO1, TMEM26, ZCCHC24, ENKUR, ARMC3, UNC5B, STOX1, FAM241B, TYSND1, ZNF25, GJD4, CCNY, RTKN2, TBATA, ATOH7, OTUD1, ZNF438, SLC16A9, FAM13C, MARCHF8, ZNF22-AS1, ZNF485, RASGEF1A, REEP3, JMJD1C, UCMA, RPP38-DT, FAM171A1, SLC39A12, NSUN6, ARL5B, BEND7, IPMK, WASHC2C, EBF3, PROSER2, CALHM1, CASC2, PTF1A, TCERG1L, C10orf67, HSPA12A, SGMS1, PGBD3, C10orf53, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, MKX, C10orf126, FAM149B1, FFAR4, KCNK18, ST8SIA6, DUPD1, LIPM, CYP26C1, VWA2, NANOS1, LRIT2, HMX3, EBLN1, LRRTM3, PTCHD3, NHLRC2, CCDC172, C10orf113, SKIDA1, WASHC2A, SH2D4B, C10orf99, SLC16A12, CC2D2B, ENO4, ARMS2, TEX36, C1QL3, NKX1-2, MIR1915HG, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, DENND10, MIR107, ACBD7, C10orf105, C10orf62, AGAP6, C10orf55, IFIT1B, CDNF, FRG2B, MIR346, LRRC18, SPRN, MIR146B, NPS, AGAP9, INSYN2A, FAM25A, TMEM72, LIPK, LIPN, FAM25E, FAM25C, DRGX, MEIG1, ANXA8, ASAH2B, SFTPA1, SNORA12, ANXA8L1, NUTM2A, AGAP10, AGAP5, SFTPA2, NUTM2B, TLX1NB, C10orf131, LOC100131132, CALML3-AS1, FAM25G, ADIRF-AS1, KLLN, PRINS, TIMM23, MTRNR2L7, MIR1915, FAS-AS1, MTRNR2L5, COMMD3-BMI1, TCERG1L-AS1, LINC01166, LOC101929662, LINC01520, ACADSB, ACTA2, ADAM8, ADARB2, ADD3, ADK, ADRA2A, ADRB1, ALOX5, ANK3, ANXA7, ANXA11, FAS, ARL3, ATP5F1C, BMI1, BMPR1A, BNIP3, CACNB2, CALML3, CAMK2G, CASP7, ENTPD1, CDK1, CHAT, AKR1C4, CHUK, ABCC2, COL13A1, COL17A1, KLF6, MAP3K8, COX15, CPN1, CREM, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, AKR1C1, AKR1C2, DMBT1, DNA2, TRDMT1, DNTT, DOCK1, DUSP5, ECHS1, EGR2, EIF4EBP2, EMX2, ERCC6, FGF8, FGFR2, GAD2, GATA3, GDF2, GDF10, GDI2, GFRA1, GLUD1, GOT1, PRLHR, GPR26, GRK5, GRID1, HABP2, HELLS, HHEX, HK1, HMX2, HNRNPF, HNRNPH3, TLX1, HPS1, HTR7, IDE, IDI1, IFIT2, IFIT1, IFIT3, IL2RA, IL15RA, INPP5A, ITGB1, ITIH2, KCNMA1, KIF5B, KIF11, ABLIM1, LIPA, MAT1A, MBL2, MGMT, MKI67, MSMB, MXI1, NDUFB8, NFKB2, NODAL, NRAP, OAT, P4HA1, PAX2, PCBD1, PDE6C, PFKFB3, PFKP, PGAM1, PHYH, PIP4K2A, PITX3, PLAU, PNLIP, PNLIPRP1, PNLIPRP2, PPA1, PPP1R3C, PPP3CB, NPY4R, PRF1, SRGN, PRKCQ, PRKG1, MAPK8, HTRA1, PSAP, PSD, PTEN, PTPRE, ALDH18A1, RBP3, RBP4, RET, RGR, RGS10, RPS24, RSU1, SCD, CXCL12, SFRP5, SFTPD, FBXW4, SLC18A2, SLC18A3, SLIT1, SNCG, SUPV3L1, SVIL, TACR2, TAF5, TCF7L2, ZEB1, TECTB, TFAM, TIAL1, TLL2, UBE2D1, UROS, VCL, VDAC2, VIM, WNT8B, XPNPEP1, ZNF22, ZNF32, ZNF33A, ZNF33B, ZNF37A, STAM, MLLT10, CUBN, CCDC6, NCOA4, SLC25A16, SHOC2, ADAM12, ZNF239, FZD8, UTF1, CUL2, PARG, NDST2, LIPF, ITGA8, PRPF18, AKR1C3, EIF3A, GBF1, NRP1, LDB1, CDC123, SGPL1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, SMC3, NEURL1, BUB3, DDX21, HACD1, LGI1, NOLC1, DLG5, PTER, NMT2, GSTO1, CHST3, BAG3, VPS26A, MINPP1, SPAG6, KIF20B, SEC24C, SH3PXD2A, FAM53B, USP6NL, GPRIN2, SLK, BMS1, SPOCK2, ZNF518A, RHOBTB1, DCLRE1A, ABI1, FRAT1, PPIF, ACTR1A, OPTN, NET1, SMNDC1, NPM3, MICU1, NEBL, PITRM1, GLRX3, RPP30, RPP38, DPYSL4, TACC2, SORBS1, ERLIN1, CELF2, LBX1, NRG3, OGA, YME1L1, ZMYND11, TUBGCP2, PRDX3, ADIRF, VAX1, DEPP1, ATE1, POLR3A, ZWINT, LDB3, NUDT5, SEC23IP, ECD, RAB11FIP2, CPEB3, ANKRD26, INPP5F, WDR37, ZNF365, MSRB2, SEPHS1, RAB18, DKK1, KIN, NT5C2, DIP2C, PDCD11, SORCS3, ZSWIM8, WAPL, PPRC1, ABRAXAS2, LARP4B, RRP12, TBC1D12, DNAJC9, DNMBP, CSTF2T, FRAT2, SIRT1, COMMD3, KAT6B, TSPAN15, GTPBP4, PDSS1, IFIT5, BAMBI, DPCD, SEC31B, NUDT13, UPF2, ATRNL1, HERC4, PTPN20, EDRF1, LRIT1, TCTN3, KIFBP, C10orf12, ANKRD2, CNNM1, MYOF, AP3M1, ANKRD1, GHITM, PALD1, PDCD4, VENTX, R3HCC1L, POLL, CTNNA3, BLNK, A1CF, NRBF2, KCNIP2, CUZD1, CALY, NEUROG3, ASCC1, EXOSC1, MRPS16, CALHM2, CUTC
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000612829
6.
GRCh37:
Chr10:73232-135524321
ACADSB, ACTA2, ADAM8, ADARB2, ADD3, ADK, ADRA2A, ADRB1, ALOX5, ANK3, ANXA7, ANXA11, FAS, ARL3, ATP5F1C, BMI1, BMPR1A, BNIP3, CACNB2, CALML3, CAMK2G, CASP7, ENTPD1, CDK1, CHAT, AKR1C4, CHUK, ABCC2, COL13A1, COL17A1, KLF6, MAP3K8, COX15, CPN1, CREM, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, AKR1C1, AKR1C2, DMBT1, DNA2, TRDMT1, DNTT, DOCK1, DUSP5, ECHS1, EGR2, EIF4EBP2, EMX2, ERCC6, FGF8, FGFR2, GAD2, GATA3, GDF2, GDF10, GDI2, GFRA1, GLUD1, GOT1, PRLHR, GPR26, GRK5, GRID1, HABP2, HELLS, HHEX, HK1, HMX2, HNRNPF, HNRNPH3, TLX1, HPS1, HTR7, IDE, IDI1, IFIT2, IFIT1, IFIT3, IL2RA, IL15RA, INPP5A, ITGB1, ITIH2, KCNMA1, KIF5B, KIF11, ABLIM1, LIPA, MAT1A, MBL2, MGMT, MKI67, MSMB, MXI1, NDUFB8, NFKB2, NODAL, NRAP, OAT, P4HA1, PAX2, PCBD1, PDE6C, PFKFB3, PFKP, PGAM1, PHYH, PIP4K2A, PITX3, PLAU, PNLIP, PNLIPRP1, PNLIPRP2, PPA1, PPP1R3C, PPP3CB, NPY4R, PRF1, SRGN, PRKCQ, PRKG1, MAPK8, HTRA1, PSAP, PSD, PTEN, PTPRE, ALDH18A1, RBP3, RBP4, RET, RGR, RGS10, RPS24, RSU1, SCD, CXCL12, SFRP5, SFTPD, FBXW4, SLC18A2, SLC18A3, SLIT1, SNCG, SUPV3L1, SVIL, TACR2, TAF5, TCF7L2, ZEB1, TECTB, TFAM, TIAL1, TLL2, UBE2D1, UROS, VCL, VDAC2, VIM, WNT8B, XPNPEP1, ZNF22, ZNF32, ZNF33A, ZNF33B, ZNF37A, STAM, MLLT10, CUBN, CCDC6, NCOA4, SLC25A16, SHOC2, ADAM12, ZNF239, FZD8, UTF1, CUL2, PARG, NDST2, LIPF, ITGA8, PRPF18, AKR1C3, EIF3A, GBF1, NRP1, LDB1, CDC123, SGPL1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, SMC3, NEURL1, BUB3, DDX21, HACD1, LGI1, NOLC1, DLG5, PTER, NMT2, GSTO1, CHST3, BAG3, VPS26A, MINPP1, SPAG6, KIF20B, SEC24C, SH3PXD2A, FAM53B, USP6NL, GPRIN2, SLK, BMS1, SPOCK2, ZNF518A, RHOBTB1, DCLRE1A, ABI1, FRAT1, PPIF, ACTR1A, OPTN, NET1, SMNDC1, NPM3, MICU1, NEBL, PITRM1, GLRX3, RPP30, RPP38, DPYSL4, TACC2, SORBS1, ERLIN1, CELF2, LBX1, NRG3, OGA, YME1L1, ZMYND11, TUBGCP2, PRDX3, ADIRF, VAX1, DEPP1, ATE1, POLR3A, ZWINT, LDB3, NUDT5, SEC23IP, ECD, RAB11FIP2, CPEB3, ANKRD26, INPP5F, WDR37, ZNF365, MSRB2, SEPHS1, RAB18, DKK1, KIN, NT5C2, DIP2C, PDCD11, SORCS3, ZSWIM8, WAPL, PPRC1, ABRAXAS2, LARP4B, RRP12, TBC1D12, DNAJC9, DNMBP, CSTF2T, FRAT2, SIRT1, COMMD3, KAT6B, TSPAN15, GTPBP4, PDSS1, IFIT5, BAMBI, DPCD, SEC31B, NUDT13, UPF2, ATRNL1, HERC4, PTPN20, EDRF1, LRIT1, TCTN3, KIFBP, C10orf12, ANKRD2, CNNM1, MYOF, AP3M1, ANKRD1, GHITM, PALD1, PDCD4, VENTX, R3HCC1L, POLL, CTNNA3, BLNK, A1CF, NRBF2, KCNIP2, CUZD1, CALY, NEUROG3, ASCC1, EXOSC1, MRPS16, CALHM2, CUTC, HSPA14, PLCE1, DUSP13, WAC, CHST15, SUFU, ACSL5, CALML5, PANK1, FXYD4, MYO3A, CCSER2, APBB1IP, ANKRD16, EXOC6, SHLD2, DDIT4, CCNJ, MARCHF5, ZRANB1, CFAP46, NSMCE4A, DNAJB12, CNNM2, WBP1L, TASOR2, CCDC186, CRTAC1, ARMC4, MTPAP, CEP55, SEC61A2, LRRC20, CWF19L1, OLAH, SLC29A3, RNLS, PI4K2A, MCM10, CSGALNACT2, MACROH2A2, DHTKD1, HIF1AN, RUFY2, FRMD4A, WDR11, SLF2, CCAR1, OGDHL, DHX32, PPP2R2D, CISD1, TDRD1, KIAA1217, PARD3, DNAJC12, ASAH2, BCCIP, TWNK, SAR1A, TM9SF3, PRTFDC1, ENTPD7, CAMK1D, ZMIZ1, ZNF248, AS3MT, GPR158, STAMBPL1, ARHGAP21, JCAD, GPAM, SHTN1, FAM160B1, WDFY4, SFMBT2, SEMA4G, ARHGAP22, MYOZ1, PLEKHA1, AVPI1, HPSE2, FAM204A, CDH23, LHPP, PBLD, NPFFR1, VSIR, MMS19, DNAJC1, NOC3L, IKZF5, DCLRE1C, ZDHHC6, PCDH15, CUEDC2, DDX50, FBXL15, OR13A1, ARMH3, SUV39H2, CCDC7, ECHDC3, ASB13, HPS6, MMRN2, MFSD13A, TUBAL3, MCMBP, THNSL1, SYNPO2L, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, MINDY3, UBTD1, BICC1, TMEM254, HKDC1, CFAP43, TET1, LRRC27, EPC1, TNKS2, ITIH5, TRIM8, TSPAN14, KAZALD1, SFXN3, SLC25A28, ELOVL3, AKR1E2, FAM107B, CCDC3, MARVELD1, SYT15, TAF3, RASSF4, LRMDA, PCGF6, ARID5B, LOXL4, ZDHHC16, PRXL2A, DYDC2, PCGF5, ADGRA1, LZTS2, PHYHIPL, LCOR, NKX6-2, MRPL43, LYZL1, AFAP1L2, PLA2G12B, MYPN, PYROXD2, ATP5MD, ZNF503, AIFM2, ADO, FBH1, ATAD1, PLXDC2, MASTL, ARHGAP19, RBM17, KNDC1, ITPRIP, MCU, ANKRD30A, ACBD5, IDI2, MTG1, CDHR1, BBIP1, FANK1, OPALIN, SYCE1, ZFAND4, ARHGAP12, OPN4, HOGA1, UCN3, SORCS1, C10orf71, PRAP1, ZNF511, CHCHD1, MSS51, CFAP70, C10orf90, BTBD16, FAM24A, PSTK, ZNF488, PIK3AP1, MORN4, ZFYVE27, MMP21, COMTD1, FRA10AC1, ANKRD22, SFXN2, PDZD8, AGAP4, BORCS7, LYZL2, AGAP11, GSTO2, SFR1, CALHM3, CLRN3, ANAPC16, PNLIPRP3, SFXN4, CPXM2, ADAMTS14, ACSM6, SAMD8, LIPJ, TRUB1, MPP7, FRMPD2, VTI1A, DYDC1, EIF5AL1, HECTD2, FGFBP3, C10orf82, CACUL1, USP54, NKX2-3, SLC35G1, CFAP58, FAM170B, TMEM273, FUT11, OIT3, LINC02870, PWWP2B, EMX2OS, PLPP4, VSTM4, PAOX, FAM24B, PLAC9, CABCOCO1, TMEM26, ZCCHC24, ENKUR, ARMC3, UNC5B, STOX1, FAM241B, TYSND1, ZNF25, GJD4, CCNY, RTKN2, TBATA, ATOH7, OTUD1, ZNF438, SLC16A9, FAM13C, MARCHF8, ZNF22-AS1, ZNF485, RASGEF1A, REEP3, JMJD1C, UCMA, RPP38-DT, FAM171A1, SLC39A12, NSUN6, ARL5B, BEND7, IPMK, WASHC2C, EBF3, PROSER2, CALHM1, CASC2, PTF1A, TCERG1L, C10orf67, HSPA12A, SGMS1, PGBD3, C10orf53, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, MKX, C10orf126, FAM149B1, FFAR4, KCNK18, ST8SIA6, DUPD1, LIPM, CYP26C1, VWA2, NANOS1, LRIT2, HMX3, EBLN1, TUBB8, LRRTM3, PTCHD3, NHLRC2, CCDC172, C10orf113, SKIDA1, WASHC2A, SH2D4B, C10orf99, SLC16A12, CC2D2B, ENO4, ARMS2, TEX36, C1QL3, NKX1-2, MIR1915HG, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, DENND10, MIR107, ACBD7, C10orf105, C10orf62, AGAP6, C10orf55, IFIT1B, CDNF, FRG2B, MIR346, LRRC18, SPRN, MIR146B, NPS, AGAP9, INSYN2A, FAM25A, TMEM72, LIPK, LIPN, FAM25E, FAM25C, DRGX, MEIG1, ANXA8, ASAH2B, SFTPA1, SNORA12, ANXA8L1, NUTM2A, AGAP10, AGAP5, SFTPA2, NUTM2B, TLX1NB, C10orf131, LOC100131132, CALML3-AS1, FAM25G, ADIRF-AS1, KLLN, PRINS, TIMM23, MTRNR2L7, MIR1915, FAS-AS1, MTRNR2L5, COMMD3-BMI1, TCERG1L-AS1, LINC01166, LOC101929662, LINC01520
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000612828
7.
GRCh37:
Chr10:94373324
GRCh38:
Chr10:92613567
KIF11R327HMicrocephaly with or without chorioretinopathy, lymphedema, or mental retardationUncertain significance
(Jul 14, 2018)
no assertion criteria providedVCV000592131
8.
GRCh37:
Chr10:94346520-135427143
ACADSB, ADAM8, ADD3, ADRA2A, ADRB1, ARL3, BNIP3, CASP7, ENTPD1, CHUK, ABCC2, COL17A1, COX15, CPN1, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, DMBT1, DNTT, DOCK1, DUSP5, ECHS1, EMX2, FGF8, FGFR2, GFRA1, GOT1, PRLHR, GPR26, GRK5, HABP2, HELLS, HHEX, HMX2, TLX1, HPS1, INPP5A, KIF11, ABLIM1, MGMT, MKI67, MXI1, NDUFB8, NFKB2, NRAP, OAT, PAX2, PDE6C, PGAM1, PITX3, PNLIP, PNLIPRP1, PNLIPRP2, HTRA1, PSD, PTPRE, ALDH18A1, RBP4, RGS10, SCD, SFRP5, FBXW4, SLC18A2, SLIT1, TAF5, TCF7L2, TECTB, TIAL1, TLL2, UROS, WNT8B, XPNPEP1, SHOC2, ADAM12, UTF1, EIF3A, GBF1, LDB1, BTRC, PKD2L1, INA, PDLIM1, SMC3, NEURL1, BUB3, LGI1, NOLC1, GSTO1, BAG3, SH3PXD2A, FAM53B, SLK, ZNF518A, DCLRE1A, FRAT1, ACTR1A, SMNDC1, NPM3, GLRX3, DPYSL4, TACC2, SORBS1, ERLIN1, LBX1, OGA, TUBGCP2, PRDX3, VAX1, ATE1, SEC23IP, RAB11FIP2, INPP5F, NT5C2, PDCD11, SORCS3, PPRC1, ABRAXAS2, RRP12, TBC1D12, DNMBP, FRAT2, DPCD, SEC31B, ATRNL1, EDRF1, TCTN3, C10orf12, ANKRD2, CNNM1, MYOF, PDCD4, VENTX, R3HCC1L, POLL, BLNK, KCNIP2, CUZD1, CALY, EXOSC1, CALHM2, CUTC, PLCE1, CHST15, SUFU, ACSL5, EXOC6, CCNJ, ZRANB1, CFAP46, NSMCE4A, CNNM2, WBP1L, CCDC186, CRTAC1, CEP55, CWF19L1, PI4K2A, HIF1AN, WDR11, SLF2, DHX32, PPP2R2D, TDRD1, BCCIP, TWNK, TM9SF3, ENTPD7, AS3MT, GPAM, SHTN1, FAM160B1, SEMA4G, PLEKHA1, AVPI1, HPSE2, FAM204A, LHPP, MMS19, NOC3L, IKZF5, ZDHHC6, CUEDC2, FBXL15, ARMH3, HPS6, MFSD13A, MCMBP, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, UBTD1, CFAP43, LRRC27, TRIM8, KAZALD1, SFXN3, SLC25A28, ELOVL3, MARVELD1, PCGF6, LOXL4, ZDHHC16, ADGRA1, LZTS2, LCOR, NKX6-2, MRPL43, AFAP1L2, PYROXD2, ATP5MD, ARHGAP19, KNDC1, ITPRIP, MTG1, BBIP1, FANK1, OPALIN, SYCE1, HOGA1, SORCS1, PRAP1, ZNF511, C10orf90, BTBD16, FAM24A, PSTK, PIK3AP1, MORN4, ZFYVE27, MMP21, FRA10AC1, SFXN2, PDZD8, BORCS7, GSTO2, SFR1, CALHM3, CLRN3, PNLIPRP3, SFXN4, CPXM2, ACSM6, TRUB1, VTI1A, C10orf82, CACUL1, NKX2-3, SLC35G1, CFAP58, LINC02870, PWWP2B, EMX2OS, PLPP4, PAOX, FAM24B, EBF3, CALHM1, CASC2, TCERG1L, HSPA12A, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, FFAR4, KCNK18, CYP26C1, VWA2, NANOS1, HMX3, NHLRC2, CCDC172, CC2D2B, ENO4, ARMS2, TEX36, NKX1-2, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, DENND10, C10orf62, SPRN, MIR146B, NPS, INSYN2A, SNORA12, TLX1NB, C10orf131, TCERG1L-AS1, LINC01166
not providedPathogenic
(Jul 8, 2017)
no assertion criteria providedVCV000563802
9.
GRCh37:
Chr10:94366962
GRCh38:
Chr10:92607205
KIF11R119fsnot providedLikely pathogenic
(May 17, 2018)
criteria provided, single submitterVCV000545928
10.
GRCh37:
Chr10:94399568-94399571
GRCh38:
Chr10:92639811-92639814
KIF11M726fsnot providedLikely pathogenic
(Apr 19, 2018)
criteria provided, single submitterVCV000524114
11.
GRCh37:
Chr10:42347406-135534747
HECTD2, FGFBP3, C10orf82, CACUL1, USP54, NKX2-3, SLC35G1, CFAP58, FAM170B, TMEM273, FUT11, OIT3, LINC02870, PWWP2B, EMX2OS, PLPP4, VSTM4, PAOX, FAM24B, PLAC9, CABCOCO1, TMEM26, ZCCHC24, UNC5B, STOX1, FAM241B, TYSND1, RTKN2, TBATA, ATOH7, SLC16A9, FAM13C, MARCHF8, ZNF22-AS1, ZNF485, RASGEF1A, REEP3, JMJD1C, IPMK, WASHC2C, EBF3, CALHM1, CASC2, TCERG1L, HSPA12A, SGMS1, PGBD3, C10orf53, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, FAM149B1, FFAR4, KCNK18, DUPD1, LIPM, CYP26C1, VWA2, NANOS1, LRIT2, HMX3, LRRTM3, NHLRC2, CCDC172, WASHC2A, SH2D4B, C10orf99, SLC16A12, CC2D2B, ENO4, ARMS2, TEX36, NKX1-2, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, DENND10, MIR107, C10orf105, C10orf62, AGAP6, C10orf55, IFIT1B, FRG2B, MIR346, LRRC18, SPRN, MIR146B, NPS, AGAP9, INSYN2A, FAM25A, TMEM72, LIPK, LIPN, FAM25E, FAM25C, DRGX, ANXA8, ASAH2B, SFTPA1, SNORA12, ANXA8L1, NUTM2A, AGAP10, AGAP5, SFTPA2, NUTM2B, TLX1NB, C10orf131, LOC100131132, FAM25G, ADIRF-AS1, KLLN, TIMM23, FAS-AS1, MTRNR2L5, TCERG1L-AS1, LINC01166, LOC101929662, LINC01520, ACADSB, ACTA2, ADAM8, ADD3, ADK, ADRA2A, ADRB1, ALOX5, ANK3, ANXA7, ANXA11, FAS, ARL3, CHAT, BMPR1A, BNIP3, CAMK2G, CASP7, ENTPD1, CDK1, CHUK, ABCC2, COL13A1, COL17A1, COX15, CPN1, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, DMBT1, DNA2, DNTT, DOCK1, DUSP5, ECHS1, EGR2, EIF4EBP2, EMX2, ERCC6, FGF8, FGFR2, GDF2, GDF10, GFRA1, GLUD1, GOT1, PRLHR, GPR26, GRK5, GRID1, HABP2, HELLS, HHEX, HK1, HMX2, HNRNPF, HNRNPH3, TLX1, HPS1, HTR7, IDE, IFIT2, IFIT1, IFIT3, INPP5A, KCNMA1, KIF11, ABLIM1, LIPA, MAT1A, MBL2, MGMT, MKI67, MSMB, MXI1, NDUFB8, NFKB2, NODAL, NRAP, OAT, P4HA1, PAX2, PCBD1, PDE6C, PGAM1, PITX3, PLAU, PNLIP, PNLIPRP1, PNLIPRP2, PPA1, PPP1R3C, PPP3CB, NPY4R, PRF1, SRGN, PRKG1, MAPK8, HTRA1, PSAP, PSD, PTEN, PTPRE, ALDH18A1, RBP3, RBP4, RET, RGR, RGS10, RPS24, SCD, CXCL12, SFRP5, SFTPD, FBXW4, SLC18A2, SLC18A3, SLIT1, SNCG, SUPV3L1, TACR2, TAF5, TCF7L2, TECTB, TFAM, TIAL1, TLL2, UBE2D1, UROS, VCL, VDAC2, WNT8B, XPNPEP1, ZNF22, ZNF32, ZNF33B, CCDC6, NCOA4, SLC25A16, SHOC2, ADAM12, ZNF239, UTF1, PARG, NDST2, LIPF, EIF3A, GBF1, LDB1, SGPL1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, SMC3, NEURL1, BUB3, DDX21, LGI1, NOLC1, DLG5, GSTO1, CHST3, BAG3, VPS26A, MINPP1, KIF20B, SEC24C, SH3PXD2A, FAM53B, GPRIN2, SLK, BMS1, SPOCK2, ZNF518A, RHOBTB1, DCLRE1A, FRAT1, PPIF, ACTR1A, SMNDC1, NPM3, MICU1, GLRX3, RPP30, DPYSL4, TACC2, SORBS1, ERLIN1, LBX1, NRG3, OGA, TUBGCP2, PRDX3, ADIRF, VAX1, DEPP1, ATE1, POLR3A, ZWINT, LDB3, SEC23IP, ECD, RAB11FIP2, CPEB3, INPP5F, ZNF365, DKK1, NT5C2, PDCD11, SORCS3, ZSWIM8, WAPL, PPRC1, ABRAXAS2, RRP12, TBC1D12, DNAJC9, DNMBP, CSTF2T, FRAT2, SIRT1, KAT6B, TSPAN15, IFIT5, DPCD, SEC31B, NUDT13, ATRNL1, HERC4, PTPN20, EDRF1, LRIT1, TCTN3, KIFBP, C10orf12, ANKRD2, CNNM1, MYOF, AP3M1, ANKRD1, GHITM, PALD1, PDCD4, VENTX, R3HCC1L, POLL, CTNNA3, BLNK, A1CF, NRBF2, KCNIP2, CUZD1, CALY, NEUROG3, ASCC1, EXOSC1, MRPS16, CALHM2, CUTC, PLCE1, DUSP13, CHST15, SUFU, ACSL5, PANK1, FXYD4, CCSER2, EXOC6, SHLD2, DDIT4, CCNJ, MARCHF5, ZRANB1, CFAP46, NSMCE4A, DNAJB12, CNNM2, WBP1L, CCDC186, CRTAC1, CEP55, LRRC20, CWF19L1, SLC29A3, RNLS, PI4K2A, CSGALNACT2, MACROH2A2, HIF1AN, RUFY2, WDR11, SLF2, CCAR1, OGDHL, DHX32, PPP2R2D, CISD1, TDRD1, DNAJC12, ASAH2, BCCIP, TWNK, SAR1A, TM9SF3, ENTPD7, ZMIZ1, AS3MT, STAMBPL1, GPAM, SHTN1, FAM160B1, WDFY4, SEMA4G, ARHGAP22, MYOZ1, PLEKHA1, AVPI1, HPSE2, FAM204A, CDH23, LHPP, PBLD, NPFFR1, VSIR, MMS19, NOC3L, IKZF5, ZDHHC6, PCDH15, CUEDC2, DDX50, FBXL15, OR13A1, ARMH3, HPS6, MMRN2, MFSD13A, MCMBP, SYNPO2L, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, UBTD1, BICC1, TMEM254, HKDC1, CFAP43, TET1, LRRC27, TNKS2, TRIM8, TSPAN14, KAZALD1, SFXN3, SLC25A28, ELOVL3, MARVELD1, SYT15, RASSF4, LRMDA, PCGF6, ARID5B, LOXL4, ZDHHC16, PRXL2A, DYDC2, PCGF5, ADGRA1, LZTS2, PHYHIPL, LCOR, NKX6-2, MRPL43, AFAP1L2, PLA2G12B, MYPN, PYROXD2, ATP5MD, ZNF503, AIFM2, ADO, ATAD1, ARHGAP19, KNDC1, ITPRIP, MCU, MTG1, CDHR1, BBIP1, FANK1, OPALIN, SYCE1, ZFAND4, OPN4, HOGA1, SORCS1, C10orf71, PRAP1, ZNF511, CHCHD1, MSS51, CFAP70, C10orf90, BTBD16, FAM24A, PSTK, ZNF488, PIK3AP1, MORN4, ZFYVE27, MMP21, COMTD1, FRA10AC1, ANKRD22, SFXN2, PDZD8, AGAP4, BORCS7, AGAP11, GSTO2, SFR1, CALHM3, CLRN3, ANAPC16, PNLIPRP3, SFXN4, CPXM2, ADAMTS14, ACSM6, SAMD8, LIPJ, TRUB1, FRMPD2, VTI1A, DYDC1, EIF5AL1
PARP Inhibitor responsedrug response
(Nov 27, 2017)
no assertion criteria providedVCV000523165
12.
GRCh37:
Chr10:94408118-94408121
GRCh38:
Chr10:92648361-92648364
KIF11N899fsInborn genetic diseasesPathogenic
(Jul 13, 2017)
criteria provided, single submitterVCV000521913
13.
GRCh37:
Chr10:94410206-94410207
GRCh38:
Chr10:92650449-92650450
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationLikely pathogenic
(Jan 1, 2018)
criteria provided, single submitterVCV000495254
14.
GRCh37:
Chr10:94381165
GRCh38:
Chr10:92621407-92621408
KIF11not providedLikely pathogenic
(Oct 31, 2017)
criteria provided, single submitterVCV000493080
15.
GRCh37:
Chr10:94366439
GRCh38:
Chr10:92606682
KIF11E92*not providedPathogenic
(Aug 29, 2017)
criteria provided, single submitterVCV000489054
16.
GRCh37:
Chr10:94366083
GRCh38:
Chr10:92606326
KIF11R47*not providedPathogenic
(Dec 20, 2017)
criteria provided, single submitterVCV000488844
17.
GRCh37:
Chr10:94353134
GRCh38:
Chr10:92593377
KIF11M1Tnot providedPathogenic
(Dec 4, 2017)
criteria provided, single submitterVCV000488843
18.
GRCh37:
Chr10:94399620
GRCh38:
Chr10:92639863
KIF11Q744*Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Dec 18, 2017)
no assertion criteria providedVCV000453264
19.
GRCh37:
Chr10:94409662-94409664
GRCh38:
Chr10:92649905-92649907
KIF11L948delnot providedLikely pathogenic
(Jul 20, 2017)
criteria provided, single submitterVCV000450690
20.
GRCh37:
Chr10:94388641-94388643
GRCh38:
Chr10:92628884-92628886
KIF11E432delnot provided, Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationLikely pathogenic
(Jul 19, 2017)
criteria provided, single submitterVCV000450271
21.
GRCh37:
Chr10:93283493-135427143
ALDH18A1, RBP4, RGS10, SCD, SFRP5, FBXW4, SLC18A2, SLIT1, TAF5, TCF7L2, TECTB, TIAL1, TLL2, UROS, WNT8B, XPNPEP1, SHOC2, ADAM12, UTF1, EIF3A, GBF1, LDB1, BTRC, PKD2L1, BTAF1, INA, PDLIM1, SMC3, NEURL1, BUB3, LGI1, NOLC1, GSTO1, BAG3, SH3PXD2A, FAM53B, SLK, ZNF518A, DCLRE1A, FRAT1, ACTR1A, SMNDC1, NPM3, GLRX3, DPYSL4, TACC2, SORBS1, ERLIN1, LBX1, OGA, TUBGCP2, PRDX3, VAX1, ATE1, SEC23IP, RAB11FIP2, CPEB3, INPP5F, NT5C2, PDCD11, SORCS3, PPRC1, ABRAXAS2, RRP12, TBC1D12, DNMBP, FRAT2, DPCD, SEC31B, ATRNL1, EDRF1, TCTN3, C10orf12, ANKRD2, CNNM1, MYOF, PDCD4, VENTX, R3HCC1L, POLL, BLNK, KCNIP2, CUZD1, CALY, EXOSC1, CALHM2, CUTC, PLCE1, CHST15, SUFU, ACSL5, EXOC6, CCNJ, MARCHF5, ZRANB1, CFAP46, NSMCE4A, CNNM2, WBP1L, CCDC186, CRTAC1, CEP55, CWF19L1, PI4K2A, HIF1AN, WDR11, SLF2, DHX32, PPP2R2D, TDRD1, BCCIP, TWNK, TM9SF3, ENTPD7, AS3MT, GPAM, SHTN1, FAM160B1, SEMA4G, PLEKHA1, AVPI1, HPSE2, FAM204A, LHPP, MMS19, NOC3L, IKZF5, ZDHHC6, CUEDC2, FBXL15, ARMH3, HPS6, MFSD13A, MCMBP, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, UBTD1, CFAP43, LRRC27, TNKS2, TRIM8, KAZALD1, SFXN3, SLC25A28, ELOVL3, MARVELD1, PCGF6, LOXL4, ZDHHC16, ADGRA1, LZTS2, LCOR, NKX6-2, MRPL43, AFAP1L2, PYROXD2, ATP5MD, ARHGAP19, KNDC1, ITPRIP, MTG1, BBIP1, FANK1, OPALIN, SYCE1, HOGA1, SORCS1, PRAP1, ZNF511, C10orf90, BTBD16, FAM24A, PSTK, PIK3AP1, MORN4, ZFYVE27, MMP21, FRA10AC1, SFXN2, PDZD8, BORCS7, GSTO2, SFR1, CALHM3, CLRN3, PNLIPRP3, SFXN4, CPXM2, ACSM6, TRUB1, VTI1A, FGFBP3, C10orf82, CACUL1, NKX2-3, SLC35G1, CFAP58, LINC02870, PWWP2B, EMX2OS, PLPP4, PAOX, FAM24B, EBF3, CALHM1, CASC2, TCERG1L, HSPA12A, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, FFAR4, KCNK18, CYP26C1, VWA2, NANOS1, HMX3, NHLRC2, CCDC172, CC2D2B, ENO4, ARMS2, TEX36, NKX1-2, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, DENND10, C10orf62, SPRN, MIR146B, NPS, INSYN2A, SNORA12, TLX1NB, C10orf131, TCERG1L-AS1, LINC01166, ACADSB, ADAM8, ADD3, ADRA2A, ADRB1, ARL3, BNIP3, CASP7, ENTPD1, CHUK, ABCC2, COL17A1, COX15, CPN1, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, DMBT1, DNTT, DOCK1, DUSP5, ECHS1, EMX2, FGF8, FGFR2, GFRA1, GOT1, PRLHR, GPR26, GRK5, HABP2, HELLS, HHEX, HMX2, TLX1, HPS1, IDE, INPP5A, KIF11, ABLIM1, MGMT, MKI67, MXI1, NDUFB8, NFKB2, NRAP, OAT, PAX2, PDE6C, PGAM1, PITX3, PNLIP, PNLIPRP1, PNLIPRP2, PPP1R3C, HTRA1, PSD, PTPRE
See casesPathogenic
(Jun 23, 2014)
no assertion criteria providedVCV000443323
22.
GRCh37:
Chr10:93186527-95820286
See casesPathogenic
(Dec 22, 2014)
no assertion criteria providedVCV000443180
23.
GRCh37:
Chr10:100027-135427143
AIFM2, ADO, FBH1, ATAD1, PLXDC2, MASTL, ARHGAP19, RBM17, KNDC1, ITPRIP, MCU, ANKRD30A, ACBD5, IDI2, MTG1, CDHR1, BBIP1, FANK1, OPALIN, SYCE1, ZFAND4, ARHGAP12, OPN4, HOGA1, UCN3, SORCS1, C10orf71, PRAP1, ZNF511, CHCHD1, MSS51, CFAP70, C10orf90, BTBD16, FAM24A, PSTK, ZNF488, PIK3AP1, MORN4, ZFYVE27, MMP21, COMTD1, FRA10AC1, ANKRD22, SFXN2, PDZD8, AGAP4, BORCS7, LYZL2, AGAP11, GSTO2, SFR1, CALHM3, CLRN3, ANAPC16, PNLIPRP3, SFXN4, CPXM2, ADAMTS14, ACSM6, SAMD8, LIPJ, TRUB1, MPP7, FRMPD2, VTI1A, DYDC1, EIF5AL1, HECTD2, FGFBP3, C10orf82, CACUL1, USP54, NKX2-3, SLC35G1, CFAP58, FAM170B, TMEM273, FUT11, OIT3, LINC02870, PWWP2B, EMX2OS, PLPP4, VSTM4, PAOX, FAM24B, PLAC9, CABCOCO1, TMEM26, ZCCHC24, ENKUR, ARMC3, UNC5B, STOX1, FAM241B, TYSND1, ZNF25, GJD4, CCNY, RTKN2, TBATA, ATOH7, OTUD1, ZNF438, SLC16A9, FAM13C, MARCHF8, ZNF22-AS1, ZNF485, RASGEF1A, REEP3, JMJD1C, UCMA, RPP38-DT, FAM171A1, SLC39A12, NSUN6, ARL5B, BEND7, IPMK, WASHC2C, EBF3, PROSER2, CALHM1, CASC2, PTF1A, TCERG1L, C10orf67, HSPA12A, SGMS1, PGBD3, C10orf53, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, MKX, C10orf126, FAM149B1, FFAR4, KCNK18, ST8SIA6, DUPD1, LIPM, CYP26C1, VWA2, NANOS1, LRIT2, HMX3, EBLN1, LRRTM3, PTCHD3, NHLRC2, CCDC172, C10orf113, SKIDA1, WASHC2A, SH2D4B, C10orf99, SLC16A12, CC2D2B, ENO4, ARMS2, TEX36, C1QL3, NKX1-2, MIR1915HG, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, DENND10, MIR107, ACBD7, C10orf105, C10orf62, AGAP6, C10orf55, IFIT1B, CDNF, MIR346, LRRC18, SPRN, MIR146B, NPS, AGAP9, INSYN2A, FAM25A, TMEM72, LIPK, LIPN, FAM25E, FAM25C, DRGX, MEIG1, ANXA8, ASAH2B, SFTPA1, SNORA12, ANXA8L1, NUTM2A, AGAP10, AGAP5, SFTPA2, NUTM2B, TLX1NB, C10orf131, LOC100131132, CALML3-AS1, FAM25G, ADIRF-AS1, KLLN, PRINS, TIMM23, MTRNR2L7, MIR1915, FAS-AS1, MTRNR2L5, COMMD3-BMI1, TCERG1L-AS1, LINC01166, LOC101929662, LINC01520, ACADSB, ACTA2, ADAM8, ADARB2, ADD3, ADK, ADRA2A, ADRB1, ALOX5, ANK3, ANXA7, ANXA11, FAS, ARL3, ATP5F1C, BMI1, BMPR1A, BNIP3, CACNB2, CALML3, CAMK2G, CASP7, ENTPD1, CDK1, CHAT, AKR1C4, CHUK, ABCC2, COL13A1, COL17A1, KLF6, MAP3K8, COX15, CPN1, CREM, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, AKR1C1, AKR1C2, DMBT1, DNA2, TRDMT1, DNTT, DOCK1, DUSP5, ECHS1, EGR2, EIF4EBP2, EMX2, ERCC6, FGF8, FGFR2, GAD2, GATA3, GDF2, GDF10, GDI2, GFRA1, GLUD1, GOT1, PRLHR, GPR26, GRK5, GRID1, HABP2, HELLS, HHEX, HK1, HMX2, HNRNPF, HNRNPH3, TLX1, HPS1, HTR7, IDE, IDI1, IFIT2, IFIT1, IFIT3, IL2RA, IL15RA, INPP5A, ITGB1, ITIH2, KCNMA1, KIF5B, KIF11, ABLIM1, LIPA, MAT1A, MBL2, MGMT, MKI67, MSMB, MXI1, NDUFB8, NFKB2, NODAL, NRAP, OAT, P4HA1, PAX2, PCBD1, PDE6C, PFKFB3, PFKP, PGAM1, PHYH, PIP4K2A, PITX3, PLAU, PNLIP, PNLIPRP1, PNLIPRP2, PPA1, PPP1R3C, PPP3CB, NPY4R, PRF1, SRGN, PRKCQ, PRKG1, MAPK8, HTRA1, PSAP, PSD, PTEN, PTPRE, ALDH18A1, RBP3, RBP4, RET, RGR, RGS10, RPS24, RSU1, SCD, CXCL12, SFRP5, SFTPD, FBXW4, SLC18A2, SLC18A3, SLIT1, SNCG, SUPV3L1, SVIL, TACR2, TAF5, TCF7L2, ZEB1, TECTB, TFAM, TIAL1, TLL2, UBE2D1, UROS, VCL, VDAC2, VIM, WNT8B, XPNPEP1, ZNF22, ZNF32, ZNF33A, ZNF33B, ZNF37A, STAM, MLLT10, CUBN, CCDC6, NCOA4, SLC25A16, SHOC2, ADAM12, ZNF239, FZD8, UTF1, CUL2, PARG, NDST2, LIPF, ITGA8, PRPF18, AKR1C3, EIF3A, GBF1, NRP1, LDB1, CDC123, SGPL1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, SMC3, NEURL1, BUB3, DDX21, HACD1, LGI1, NOLC1, DLG5, PTER, NMT2, GSTO1, CHST3, BAG3, VPS26A, MINPP1, SPAG6, KIF20B, SEC24C, SH3PXD2A, FAM53B, USP6NL, GPRIN2, SLK, BMS1, SPOCK2, ZNF518A, RHOBTB1, DCLRE1A, ABI1, FRAT1, PPIF, ACTR1A, OPTN, NET1, SMNDC1, NPM3, MICU1, NEBL, PITRM1, GLRX3, RPP30, RPP38, DPYSL4, TACC2, SORBS1, ERLIN1, CELF2, LBX1, NRG3, OGA, YME1L1, ZMYND11, TUBGCP2, PRDX3, ADIRF, VAX1, DEPP1, ATE1, POLR3A, ZWINT, LDB3, NUDT5, SEC23IP, ECD, RAB11FIP2, CPEB3, ANKRD26, INPP5F, WDR37, ZNF365, MSRB2, SEPHS1, RAB18, DKK1, KIN, NT5C2, DIP2C, PDCD11, SORCS3, ZSWIM8, WAPL, PPRC1, ABRAXAS2, LARP4B, RRP12, TBC1D12, DNAJC9, DNMBP, CSTF2T, FRAT2, SIRT1, COMMD3, KAT6B, TSPAN15, GTPBP4, PDSS1, IFIT5, BAMBI, DPCD, SEC31B, NUDT13, UPF2, ATRNL1, HERC4, PTPN20, EDRF1, LRIT1, TCTN3, KIFBP, C10orf12, ANKRD2, CNNM1, MYOF, AP3M1, ANKRD1, GHITM, PALD1, PDCD4, VENTX, R3HCC1L, POLL, CTNNA3, BLNK, A1CF, NRBF2, KCNIP2, CUZD1, CALY, NEUROG3, ASCC1, EXOSC1, MRPS16, CALHM2, CUTC, HSPA14, PLCE1, DUSP13, WAC, CHST15, SUFU, ACSL5, CALML5, PANK1, FXYD4, MYO3A, CCSER2, APBB1IP, ANKRD16, EXOC6, SHLD2, DDIT4, CCNJ, MARCHF5, ZRANB1, CFAP46, NSMCE4A, DNAJB12, CNNM2, WBP1L, TASOR2, CCDC186, CRTAC1, ARMC4, MTPAP, CEP55, SEC61A2, LRRC20, CWF19L1, OLAH, SLC29A3, RNLS, PI4K2A, MCM10, CSGALNACT2, MACROH2A2, DHTKD1, HIF1AN, RUFY2, FRMD4A, WDR11, SLF2, CCAR1, OGDHL, DHX32, PPP2R2D, CISD1, TDRD1, KIAA1217, PARD3, DNAJC12, ASAH2, BCCIP, TWNK, SAR1A, TM9SF3, PRTFDC1, ENTPD7, CAMK1D, ZMIZ1, ZNF248, AS3MT, GPR158, STAMBPL1, ARHGAP21, JCAD, GPAM, SHTN1, FAM160B1, WDFY4, SFMBT2, SEMA4G, ARHGAP22, MYOZ1, PLEKHA1, AVPI1, HPSE2, FAM204A, CDH23, LHPP, PBLD, NPFFR1, VSIR, MMS19, DNAJC1, NOC3L, IKZF5, DCLRE1C, ZDHHC6, PCDH15, CUEDC2, DDX50, FBXL15, OR13A1, ARMH3, SUV39H2, CCDC7, ECHDC3, ASB13, HPS6, MMRN2, MFSD13A, TUBAL3, MCMBP, THNSL1, SYNPO2L, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, MINDY3, UBTD1, BICC1, TMEM254, HKDC1, CFAP43, TET1, LRRC27, EPC1, TNKS2, ITIH5, TRIM8, TSPAN14, KAZALD1, SFXN3, SLC25A28, ELOVL3, AKR1E2, FAM107B, CCDC3, MARVELD1, SYT15, TAF3, RASSF4, LRMDA, PCGF6, ARID5B, LOXL4, ZDHHC16, PRXL2A, DYDC2, PCGF5, ADGRA1, LZTS2, PHYHIPL, LCOR, NKX6-2, MRPL43, LYZL1, AFAP1L2, PLA2G12B, MYPN, PYROXD2, ATP5MD, ZNF503
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000441987
24.
GRCh37:
Chr10:100027-135427143
ACADSB, ACTA2, ADAM8, ADARB2, ADD3, ADK, ADRA2A, ADRB1, ALOX5, ANK3, ANXA7, ANXA11, FAS, ARL3, ATP5F1C, BMI1, BMPR1A, BNIP3, CACNB2, CALML3, CAMK2G, CASP7, ENTPD1, CDK1, CHAT, AKR1C4, CHUK, ABCC2, COL13A1, COL17A1, KLF6, MAP3K8, COX15, CPN1, CREM, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, AKR1C1, AKR1C2, DMBT1, DNA2, TRDMT1, DNTT, DOCK1, DUSP5, ECHS1, EGR2, EIF4EBP2, EMX2, ERCC6, FGF8, FGFR2, GAD2, GATA3, GDF2, GDF10, GDI2, GFRA1, GLUD1, GOT1, PRLHR, GPR26, GRK5, GRID1, HABP2, HELLS, HHEX, HK1, HMX2, HNRNPF, HNRNPH3, TLX1, HPS1, HTR7, IDE, IDI1, IFIT2, IFIT1, IFIT3, IL2RA, IL15RA, INPP5A, ITGB1, ITIH2, KCNMA1, KIF5B, KIF11, ABLIM1, LIPA, MAT1A, MBL2, MGMT, MKI67, MSMB, MXI1, NDUFB8, NFKB2, NODAL, NRAP, OAT, P4HA1, PAX2, PCBD1, PDE6C, PFKFB3, PFKP, PGAM1, PHYH, PIP4K2A, PITX3, PLAU, PNLIP, PNLIPRP1, PNLIPRP2, PPA1, PPP1R3C, PPP3CB, NPY4R, PRF1, SRGN, PRKCQ, PRKG1, MAPK8, HTRA1, PSAP, PSD, PTEN, PTPRE, ALDH18A1, RBP3, RBP4, RET, RGR, RGS10, RPS24, RSU1, SCD, CXCL12, SFRP5, SFTPD, FBXW4, SLC18A2, SLC18A3, SLIT1, SNCG, SUPV3L1, SVIL, TACR2, TAF5, TCF7L2, ZEB1, TECTB, TFAM, TIAL1, TLL2, UBE2D1, UROS, VCL, VDAC2, VIM, WNT8B, XPNPEP1, ZNF22, ZNF32, ZNF33A, ZNF33B, ZNF37A, STAM, MLLT10, CUBN, CCDC6, NCOA4, SLC25A16, SHOC2, ADAM12, ZNF239, FZD8, UTF1, CUL2, PARG, NDST2, LIPF, ITGA8, PRPF18, AKR1C3, EIF3A, GBF1, NRP1, LDB1, CDC123, SGPL1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, SMC3, NEURL1, BUB3, DDX21, HACD1, LGI1, NOLC1, DLG5, PTER, NMT2, GSTO1, CHST3, BAG3, VPS26A, MINPP1, SPAG6, KIF20B, SEC24C, SH3PXD2A, FAM53B, USP6NL, GPRIN2, SLK, BMS1, SPOCK2, ZNF518A, RHOBTB1, DCLRE1A, ABI1, FRAT1, PPIF, ACTR1A, OPTN, NET1, SMNDC1, NPM3, MICU1, NEBL, PITRM1, GLRX3, RPP30, RPP38, DPYSL4, TACC2, SORBS1, ERLIN1, CELF2, LBX1, NRG3, OGA, YME1L1, ZMYND11, TUBGCP2, PRDX3, ADIRF, VAX1, DEPP1, ATE1, POLR3A, ZWINT, LDB3, NUDT5, SEC23IP, ECD, RAB11FIP2, CPEB3, ANKRD26, INPP5F, WDR37, ZNF365, MSRB2, SEPHS1, RAB18, DKK1, KIN, NT5C2, DIP2C, PDCD11, SORCS3, ZSWIM8, WAPL, PPRC1, ABRAXAS2, LARP4B, RRP12, TBC1D12, DNAJC9, DNMBP, CSTF2T, FRAT2, SIRT1, COMMD3, KAT6B, TSPAN15, GTPBP4, PDSS1, IFIT5, BAMBI, DPCD, SEC31B, NUDT13, UPF2, ATRNL1, HERC4, PTPN20, EDRF1, LRIT1, TCTN3, KIFBP, C10orf12, ANKRD2, CNNM1, MYOF, AP3M1, ANKRD1, GHITM, PALD1, PDCD4, VENTX, R3HCC1L, POLL, CTNNA3, BLNK, A1CF, NRBF2, KCNIP2, CUZD1, CALY, NEUROG3, ASCC1, EXOSC1, MRPS16, CALHM2, CUTC, HSPA14, PLCE1, DUSP13, WAC, CHST15, SUFU, ACSL5, CALML5, PANK1, FXYD4, MYO3A, CCSER2, APBB1IP, ANKRD16, EXOC6, SHLD2, DDIT4, CCNJ, MARCHF5, ZRANB1, CFAP46, NSMCE4A, DNAJB12, CNNM2, WBP1L, TASOR2, CCDC186, CRTAC1, ARMC4, MTPAP, CEP55, SEC61A2, LRRC20, CWF19L1, OLAH, SLC29A3, RNLS, PI4K2A, MCM10, CSGALNACT2, MACROH2A2, DHTKD1, HIF1AN, RUFY2, FRMD4A, WDR11, SLF2, CCAR1, OGDHL, DHX32, PPP2R2D, CISD1, TDRD1, KIAA1217, PARD3, DNAJC12, ASAH2, BCCIP, TWNK, SAR1A, TM9SF3, PRTFDC1, ENTPD7, CAMK1D, ZMIZ1, ZNF248, AS3MT, GPR158, STAMBPL1, ARHGAP21, JCAD, GPAM, SHTN1, FAM160B1, WDFY4, SFMBT2, SEMA4G, ARHGAP22, MYOZ1, PLEKHA1, AVPI1, HPSE2, FAM204A, CDH23, LHPP, PBLD, NPFFR1, VSIR, MMS19, DNAJC1, NOC3L, IKZF5, DCLRE1C, ZDHHC6, PCDH15, CUEDC2, DDX50, FBXL15, OR13A1, ARMH3, SUV39H2, CCDC7, ECHDC3, ASB13, HPS6, MMRN2, MFSD13A, TUBAL3, MCMBP, THNSL1, SYNPO2L, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, MINDY3, UBTD1, BICC1, TMEM254, HKDC1, CFAP43, TET1, LRRC27, EPC1, TNKS2, ITIH5, TRIM8, TSPAN14, KAZALD1, SFXN3, SLC25A28, ELOVL3, AKR1E2, FAM107B, CCDC3, MARVELD1, SYT15, TAF3, RASSF4, LRMDA, PCGF6, ARID5B, LOXL4, ZDHHC16, PRXL2A, DYDC2, PCGF5, ADGRA1, LZTS2, PHYHIPL, LCOR, NKX6-2, MRPL43, LYZL1, AFAP1L2, PLA2G12B, MYPN, PYROXD2, ATP5MD, ZNF503, AIFM2, ADO, FBH1, ATAD1, PLXDC2, MASTL, ARHGAP19, RBM17, KNDC1, ITPRIP, MCU, ANKRD30A, ACBD5, IDI2, MTG1, CDHR1, BBIP1, FANK1, OPALIN, SYCE1, ZFAND4, ARHGAP12, OPN4, HOGA1, UCN3, SORCS1, C10orf71, PRAP1, ZNF511, CHCHD1, MSS51, CFAP70, C10orf90, BTBD16, FAM24A, PSTK, ZNF488, PIK3AP1, MORN4, ZFYVE27, MMP21, COMTD1, FRA10AC1, ANKRD22, SFXN2, PDZD8, AGAP4, BORCS7, LYZL2, AGAP11, GSTO2, SFR1, CALHM3, CLRN3, ANAPC16, PNLIPRP3, SFXN4, CPXM2, ADAMTS14, ACSM6, SAMD8, LIPJ, TRUB1, MPP7, FRMPD2, VTI1A, DYDC1, EIF5AL1, HECTD2, FGFBP3, C10orf82, CACUL1, USP54, NKX2-3, SLC35G1, CFAP58, FAM170B, TMEM273, FUT11, OIT3, LINC02870, PWWP2B, EMX2OS, PLPP4, VSTM4, PAOX, FAM24B, PLAC9, CABCOCO1, TMEM26, ZCCHC24, ENKUR, ARMC3, UNC5B, STOX1, FAM241B, TYSND1, ZNF25, GJD4, CCNY, RTKN2, TBATA, ATOH7, OTUD1, ZNF438, SLC16A9, FAM13C, MARCHF8, ZNF22-AS1, ZNF485, RASGEF1A, REEP3, JMJD1C, UCMA, RPP38-DT, FAM171A1, SLC39A12, NSUN6, ARL5B, BEND7, IPMK, WASHC2C, EBF3, PROSER2, CALHM1, CASC2, PTF1A, TCERG1L, C10orf67, HSPA12A, SGMS1, PGBD3, C10orf53, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, MKX, C10orf126, FAM149B1, FFAR4, KCNK18, ST8SIA6, DUPD1, LIPM, CYP26C1, VWA2, NANOS1, LRIT2, HMX3, EBLN1, LRRTM3, PTCHD3, NHLRC2, CCDC172, C10orf113, SKIDA1, WASHC2A, SH2D4B, C10orf99, SLC16A12, CC2D2B, ENO4, ARMS2, TEX36, C1QL3, NKX1-2, MIR1915HG, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, DENND10, MIR107, ACBD7, C10orf105, C10orf62, AGAP6, C10orf55, IFIT1B, CDNF, MIR346, LRRC18, SPRN, MIR146B, NPS, AGAP9, INSYN2A, FAM25A, TMEM72, LIPK, LIPN, FAM25E, FAM25C, DRGX, MEIG1, ANXA8, ASAH2B, SFTPA1, SNORA12, ANXA8L1, NUTM2A, AGAP10, AGAP5, SFTPA2, NUTM2B, TLX1NB, C10orf131, LOC100131132, CALML3-AS1, FAM25G, ADIRF-AS1, KLLN, PRINS, TIMM23, MTRNR2L7, MIR1915, FAS-AS1, MTRNR2L5, COMMD3-BMI1, TCERG1L-AS1, LINC01166, LOC101929662, LINC01520
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000441986
25.
GRCh37:
Chr10:93908171-101809723
See casesPathogenic
(Feb 24, 2015)
no assertion criteria providedVCV000441822
26.
GRCh37:
Chr10:94373212
GRCh38:
Chr10:92613455
KIF11Q290*Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Mar 15, 2017)
criteria provided, single submitterVCV000435617
27.
GRCh37:
Chr10:94409743
GRCh38:
Chr10:92649986
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, not specifiedConflicting interpretations of pathogenicity
(Oct 26, 2017)
criteria provided, conflicting interpretationsVCV000435616
28.
GRCh37:
Chr10:94407968
GRCh38:
Chr10:92648211
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Jun 15, 2018)
criteria provided, multiple submitters, no conflictsVCV000435615
29.
GRCh37:
Chr10:94405364
GRCh38:
Chr10:92645607
KIF11N838Hnot specifiedBenign
(Feb 22, 2017)
criteria provided, single submitterVCV000435614
30.
GRCh37:
Chr10:94397303
GRCh38:
Chr10:92637546
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Jan 14, 2016)
criteria provided, single submitterVCV000435613
31.
GRCh37:
Chr10:94397201
GRCh38:
Chr10:92637444
KIF11H687fsMicrocephaly with or without chorioretinopathy, lymphedema, or mental retardationLikely pathogenic
(Oct 12, 2016)
criteria provided, single submitterVCV000435612
32.
GRCh37:
Chr10:94392425
GRCh38:
Chr10:92632668
KIF11M559Inot specified, Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationUncertain significance
(Nov 30, 2016)
criteria provided, multiple submitters, no conflictsVCV000435611
33.
GRCh37:
Chr10:94388652
GRCh38:
Chr10:92628895
KIF11not specifiedUncertain significance
(Feb 17, 2017)
criteria provided, single submitterVCV000435610
34.
GRCh37:
Chr10:94366056
GRCh38:
Chr10:92606299
KIF11H38fsMicrocephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Sep 28, 2016)
criteria provided, single submitterVCV000435609
35.
GRCh37:
Chr10:94397186
GRCh38:
Chr10:92637429
KIF11L682Vnot specifiedBenign
(May 25, 2017)
criteria provided, single submitterVCV000435608
36.
GRCh37:
Chr10:94407983
GRCh38:
Chr10:92648226
KIF11not specifiedLikely benign
(Sep 24, 2015)
criteria provided, single submitterVCV000435607
37.
GRCh37:
Chr10:94397248
GRCh38:
Chr10:92637491
KIF11K702Nnot specifiedLikely benign
(Jan 6, 2016)
criteria provided, single submitterVCV000435606
38.
GRCh37:
Chr10:94369258
GRCh38:
Chr10:92609501
KIF11not specifiedLikely benign
(Feb 10, 2016)
criteria provided, single submitterVCV000435605
39.
GRCh37:
Chr10:94366412
GRCh38:
Chr10:92606655
KIF11R83*Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, not providedPathogenic
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000424002
40.
GRCh37:
Chr10:94399584
GRCh38:
Chr10:92639827
KIF11R732*not providedLikely pathogenic
(Sep 12, 2016)
criteria provided, single submitterVCV000422119
41.
GRCh37:
Chr10:92667881-98970384
See casesPathogenicno assertion criteria providedVCV000396261
42.
GRCh37:
Chr10:93297-135378918
ANAPC16, PNLIPRP3, SFXN4, CPXM2, ADAMTS14, ACSM6, SAMD8, LIPJ, TRUB1, MPP7, FRMPD2, VTI1A, DYDC1, EIF5AL1, HECTD2, FGFBP3, C10orf82, CACUL1, USP54, NKX2-3, SLC35G1, CFAP58, FAM170B, TMEM273, FUT11, OIT3, LINC02870, PWWP2B, EMX2OS, PLPP4, VSTM4, PAOX, FAM24B, PLAC9, CABCOCO1, TMEM26, ZCCHC24, ENKUR, ARMC3, UNC5B, STOX1, FAM241B, TYSND1, ZNF25, GJD4, CCNY, RTKN2, TBATA, ATOH7, OTUD1, ZNF438, SLC16A9, FAM13C, MARCHF8, ZNF22-AS1, ZNF485, RASGEF1A, REEP3, JMJD1C, UCMA, RPP38-DT, FAM171A1, SLC39A12, NSUN6, ARL5B, BEND7, IPMK, WASHC2C, EBF3, PROSER2, CALHM1, CASC2, PTF1A, TCERG1L, C10orf67, HSPA12A, SGMS1, PGBD3, C10orf53, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, MKX, C10orf126, FAM149B1, FFAR4, KCNK18, ST8SIA6, DUPD1, LIPM, CYP26C1, VWA2, NANOS1, LRIT2, HMX3, EBLN1, TUBB8, LRRTM3, PTCHD3, NHLRC2, CCDC172, C10orf113, SKIDA1, WASHC2A, SH2D4B, C10orf99, SLC16A12, CC2D2B, ENO4, ARMS2, TEX36, C1QL3, NKX1-2, MIR1915HG, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, DENND10, MIR107, ACBD7, C10orf105, C10orf62, AGAP6, C10orf55, IFIT1B, CDNF, MIR346, LRRC18, SPRN, MIR146B, NPS, AGAP9, INSYN2A, FAM25A, TMEM72, LIPK, LIPN, FAM25E, FAM25C, DRGX, MEIG1, ANXA8, ASAH2B, SFTPA1, SNORA12, ANXA8L1, NUTM2A, AGAP10, AGAP5, SFTPA2, NUTM2B, TLX1NB, C10orf131, LOC100131132, CALML3-AS1, FAM25G, ADIRF-AS1, KLLN, PRINS, TIMM23, MTRNR2L7, MIR1915, FAS-AS1, MTRNR2L5, COMMD3-BMI1, TCERG1L-AS1, LINC01166, LOC101929662, LINC01520, ACADSB, ACTA2, ADAM8, ADARB2, ADD3, ADK, ADRA2A, ADRB1, ALOX5, ANK3, ANXA7, ANXA11, FAS, ARL3, ATP5F1C, BMI1, BMPR1A, BNIP3, CACNB2, CALML3, CAMK2G, CASP7, ENTPD1, CDK1, CHAT, AKR1C4, CHUK, ABCC2, COL13A1, COL17A1, KLF6, MAP3K8, COX15, CPN1, CREM, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, AKR1C1, AKR1C2, DMBT1, DNA2, TRDMT1, DNTT, DOCK1, DUSP5, ECHS1, EGR2, EIF4EBP2, EMX2, ERCC6, FGF8, FGFR2, GAD2, GATA3, GDF2, GDF10, GDI2, GFRA1, GLUD1, GOT1, PRLHR, GPR26, GRK5, GRID1, HABP2, HELLS, HHEX, HK1, HMX2, HNRNPF, HNRNPH3, TLX1, HPS1, HTR7, IDE, IDI1, IFIT2, IFIT1, IFIT3, IL2RA, IL15RA, INPP5A, ITGB1, ITIH2, KCNMA1, KIF5B, KIF11, ABLIM1, LIPA, MAT1A, MBL2, MGMT, MKI67, MSMB, MXI1, NDUFB8, NFKB2, NODAL, NRAP, OAT, P4HA1, PAX2, PCBD1, PDE6C, PFKFB3, PFKP, PGAM1, PHYH, PIP4K2A, PITX3, PLAU, PNLIP, PNLIPRP1, PNLIPRP2, PPA1, PPP1R3C, PPP3CB, NPY4R, PRF1, SRGN, PRKCQ, PRKG1, MAPK8, HTRA1, PSAP, PSD, PTEN, PTPRE, ALDH18A1, RBP3, RBP4, RET, RGR, RGS10, RPS24, RSU1, SCD, CXCL12, SFRP5, SFTPD, FBXW4, SLC18A2, SLC18A3, SLIT1, SNCG, SUPV3L1, SVIL, TACR2, TAF5, TCF7L2, ZEB1, TECTB, TFAM, TIAL1, TLL2, UBE2D1, UROS, VCL, VDAC2, VIM, WNT8B, XPNPEP1, ZNF22, ZNF32, ZNF33A, ZNF33B, ZNF37A, STAM, MLLT10, CUBN, CCDC6, NCOA4, SLC25A16, SHOC2, ADAM12, ZNF239, FZD8, UTF1, CUL2, PARG, NDST2, LIPF, ITGA8, PRPF18, AKR1C3, EIF3A, GBF1, NRP1, LDB1, CDC123, SGPL1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, SMC3, NEURL1, BUB3, DDX21, HACD1, LGI1, NOLC1, DLG5, PTER, NMT2, GSTO1, CHST3, BAG3, VPS26A, MINPP1, SPAG6, KIF20B, SEC24C, SH3PXD2A, FAM53B, USP6NL, GPRIN2, SLK, BMS1, SPOCK2, ZNF518A, RHOBTB1, DCLRE1A, ABI1, FRAT1, PPIF, ACTR1A, OPTN, NET1, SMNDC1, NPM3, MICU1, NEBL, PITRM1, GLRX3, RPP30, RPP38, DPYSL4, TACC2, SORBS1, ERLIN1, CELF2, LBX1, NRG3, OGA, YME1L1, ZMYND11, TUBGCP2, PRDX3, ADIRF, VAX1, DEPP1, ATE1, POLR3A, ZWINT, LDB3, NUDT5, SEC23IP, ECD, RAB11FIP2, CPEB3, ANKRD26, INPP5F, WDR37, ZNF365, MSRB2, SEPHS1, RAB18, DKK1, KIN, NT5C2, DIP2C, PDCD11, SORCS3, ZSWIM8, WAPL, PPRC1, ABRAXAS2, LARP4B, RRP12, TBC1D12, DNAJC9, DNMBP, CSTF2T, FRAT2, SIRT1, COMMD3, KAT6B, TSPAN15, GTPBP4, PDSS1, IFIT5, BAMBI, DPCD, SEC31B, NUDT13, UPF2, ATRNL1, HERC4, PTPN20, EDRF1, LRIT1, TCTN3, KIFBP, C10orf12, ANKRD2, CNNM1, MYOF, AP3M1, ANKRD1, GHITM, PALD1, PDCD4, VENTX, R3HCC1L, POLL, CTNNA3, BLNK, A1CF, NRBF2, KCNIP2, CUZD1, CALY, NEUROG3, ASCC1, EXOSC1, MRPS16, CALHM2, CUTC, HSPA14, PLCE1, DUSP13, WAC, CHST15, SUFU, ACSL5, CALML5, PANK1, FXYD4, MYO3A, CCSER2, APBB1IP, ANKRD16, EXOC6, SHLD2, DDIT4, CCNJ, MARCHF5, ZRANB1, CFAP46, NSMCE4A, DNAJB12, CNNM2, WBP1L, TASOR2, CCDC186, CRTAC1, ARMC4, MTPAP, CEP55, SEC61A2, LRRC20, CWF19L1, OLAH, SLC29A3, RNLS, PI4K2A, MCM10, CSGALNACT2, MACROH2A2, DHTKD1, HIF1AN, RUFY2, FRMD4A, WDR11, SLF2, CCAR1, OGDHL, DHX32, PPP2R2D, CISD1, TDRD1, KIAA1217, PARD3, DNAJC12, ASAH2, BCCIP, TWNK, SAR1A, TM9SF3, PRTFDC1, ENTPD7, CAMK1D, ZMIZ1, ZNF248, AS3MT, GPR158, STAMBPL1, ARHGAP21, JCAD, GPAM, SHTN1, FAM160B1, WDFY4, SFMBT2, SEMA4G, ARHGAP22, MYOZ1, PLEKHA1, AVPI1, HPSE2, FAM204A, CDH23, LHPP, PBLD, NPFFR1, VSIR, MMS19, DNAJC1, NOC3L, IKZF5, DCLRE1C, ZDHHC6, PCDH15, CUEDC2, DDX50, FBXL15, OR13A1, ARMH3, SUV39H2, CCDC7, ECHDC3, ASB13, HPS6, MMRN2, MFSD13A, TUBAL3, MCMBP, THNSL1, SYNPO2L, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, MINDY3, UBTD1, BICC1, TMEM254, HKDC1, CFAP43, TET1, LRRC27, EPC1, TNKS2, ITIH5, TRIM8, TSPAN14, KAZALD1, SFXN3, SLC25A28, ELOVL3, AKR1E2, FAM107B, CCDC3, MARVELD1, SYT15, TAF3, RASSF4, LRMDA, PCGF6, ARID5B, LOXL4, ZDHHC16, PRXL2A, DYDC2, PCGF5, ADGRA1, LZTS2, PHYHIPL, LCOR, NKX6-2, MRPL43, LYZL1, AFAP1L2, PLA2G12B, MYPN, PYROXD2, ATP5MD, ZNF503, AIFM2, ADO, FBH1, ATAD1, PLXDC2, MASTL, ARHGAP19, RBM17, KNDC1, ITPRIP, MCU, ANKRD30A, ACBD5, IDI2, MTG1, CDHR1, BBIP1, FANK1, OPALIN, SYCE1, ZFAND4, ARHGAP12, OPN4, HOGA1, UCN3, SORCS1, C10orf71, PRAP1, ZNF511, CHCHD1, MSS51, CFAP70, C10orf90, BTBD16, FAM24A, PSTK, ZNF488, PIK3AP1, MORN4, ZFYVE27, MMP21, COMTD1, FRA10AC1, ANKRD22, SFXN2, PDZD8, AGAP4, BORCS7, LYZL2, AGAP11, GSTO2, SFR1, CALHM3, CLRN3
See casesPathogenicno assertion criteria providedVCV000393995
43.
GRCh37:
Chr10:94353210
GRCh38:
Chr10:92593453
KIF11not providedPathogenic
(Jan 13, 2017)
criteria provided, single submitterVCV000392999
44.
GRCh37:
Chr10:94410256
GRCh38:
Chr10:92650499
KIF11not specifiedLikely benign
(Sep 21, 2015)
criteria provided, single submitterVCV000380725
45.
GRCh37:
Chr10:85557432-105804295
TBC1D12, DNMBP, FRAT2, IFIT5, DPCD, SEC31B, LRIT1, TCTN3, C10orf12, ANKRD2, CNNM1, MYOF, ANKRD1, GHITM, R3HCC1L, POLL, BLNK, KCNIP2, EXOSC1, CALHM2, CUTC, PLCE1, SUFU, PANK1, CCSER2, EXOC6, SHLD2, CCNJ, MARCHF5, CNNM2, WBP1L, CRTAC1, CEP55, CWF19L1, RNLS, PI4K2A, HIF1AN, SLF2, TWNK, TM9SF3, ENTPD7, AS3MT, STAMBPL1, SEMA4G, AVPI1, HPSE2, MMS19, NOC3L, CUEDC2, FBXL15, ARMH3, HPS6, MMRN2, MFSD13A, C10orf95, PDZD7, STN1, UBTD1, TNKS2, TRIM8, KAZALD1, SFXN3, SLC25A28, ELOVL3, MARVELD1, PCGF6, LOXL4, ZDHHC16, PCGF5, LZTS2, LCOR, MRPL43, PYROXD2, ATP5MD, ATAD1, ARHGAP19, CDHR1, OPALIN, OPN4, HOGA1, PIK3AP1, MORN4, ZFYVE27, FRA10AC1, ANKRD22, SFXN2, BORCS7, AGAP11, CALHM3, ACSM6, LIPJ, HECTD2, FGFBP3, NKX2-3, SLC35G1, CALHM1, BLOC1S2, FFAR4, LIPM, CYP26C1, LRIT2, C10orf99, SLC16A12, CC2D2B, GOLGA7B, MIR107, C10orf62, IFIT1B, MIR346, MIR146B, FAM25A, LIPK, LIPN, SNORA12, NUTM2A, TLX1NB, C10orf131, ADIRF-AS1, KLLN, FAS-AS1, LOC101929662, LINC01520, ACTA2, FAS, ARL3, BMPR1A, ENTPD1, CHUK, ABCC2, COL17A1, COX15, CPN1, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP17A1, CYP26A1, DNTT, FGF8, GLUD1, GOT1, GRID1, HELLS, HHEX, TLX1, HPS1, HTR7, IDE, IFIT2, IFIT1, IFIT3, KIF11, LIPA, NDUFB8, NFKB2, PAX2, PDE6C, PGAM1, PITX3, PPP1R3C, PSD, PTEN, ALDH18A1, RBP4, RGR, SCD, SFRP5, FBXW4, SLIT1, SNCG, TAF5, TLL2, WNT8B, LIPF, GBF1, LDB1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, NEURL1, LGI1, NOLC1, MINPP1, KIF20B, SH3PXD2A, SLK, ZNF518A, FRAT1, ACTR1A, NPM3, RPP30, SORBS1, ERLIN1, LBX1, OGA, ADIRF, LDB3, CPEB3, NT5C2, PDCD11, WAPL, PPRC1, RRP12
PARP Inhibitor responsedrug response
(Nov 27, 2017)
no assertion criteria providedVCV000377387
46.
GRCh37:
Chr10:94399661
GRCh38:
Chr10:92639904
KIF11not providedLikely pathogenic
(Aug 31, 2016)
criteria provided, single submitterVCV000374528
47.
GRCh37:
Chr10:94373206-94373215
GRCh38:
Chr10:92613449-92613458
KIF11I288fsLymphoedema, Microcephaly, Retinal dysplasia
Likely pathogenicno assertion criteria providedVCV000374219
48.
GRCh37:
Chr10:94376501
GRCh38:
Chr10:92616744
KIF11not providedPathogenic
(Oct 12, 2016)
criteria provided, single submitterVCV000373017
49.
GRCh37:
Chr10:94405193
GRCh38:
Chr10:92645436
KIF11Q781*Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenicno assertion criteria providedVCV000369969
50.
GRCh37:
Chr10:94409735
GRCh38:
Chr10:92649978
KIF11T972Anot specifiedLikely benign
(Mar 24, 2016)
criteria provided, single submitterVCV000285173
51.
GRCh37:
Chr10:94353156-94353158
GRCh38:
Chr10:92593399-92593401
KIF11not providedPathogenic
(Dec 23, 2015)
criteria provided, single submitterVCV000280235
52.
GRCh37:
Chr10:94392451
GRCh38:
Chr10:92632694
KIF11not providedPathogenic
(Dec 23, 2015)
criteria provided, single submitterVCV000280215
53.
GRCh37:
Chr10:94366898
GRCh38:
Chr10:92607141
KIF11not specifiedBenigncriteria provided, single submitterVCV000259411
54.
GRCh37:
Chr10:94408207
GRCh38:
Chr10:92648450
KIF11not specifiedBenigncriteria provided, single submitterVCV000259410
55.
GRCh37:
Chr10:94397295
GRCh38:
Chr10:92637538
KIF11H718Lnot specified, Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationBenign
(Oct 12, 2017)
criteria provided, multiple submitters, no conflictsVCV000259409
56.
GRCh37:
Chr10:94392459
GRCh38:
Chr10:92632702
KIF11not specifiedBenigncriteria provided, single submitterVCV000259408
57.
GRCh37:
Chr10:94413572
GRCh38:
Chr10:92653815
KIF11not specifiedBenigncriteria provided, single submitterVCV000259407
58.
GRCh37:
Chr10:94413508
GRCh38:
Chr10:92653751
KIF11L1042Fnot providedBenign
(Oct 28, 2015)
criteria provided, single submitterVCV000235554
59.
GRCh37:
Chr10:94368870-94715405
HHEX, KIF11, EXOC6Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria providedVCV000221476
60.
GRCh37:
Chr10:94372790-94372803
GRCh38:
Chr10:92613033-92613046
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Mar 9, 2015)
criteria provided, single submitterVCV000211275
61.
GRCh37:
Chr10:94368825
GRCh38:
Chr10:92609068
KIF11K146*Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(May 28, 2015)
criteria provided, single submitterVCV000211274
62.
GRCh37:
Chr10:94409586
GRCh38:
Chr10:92649829
KIF11not specifiedBenign
(Dec 11, 2015)
criteria provided, single submitterVCV000211273
63.
GRCh37:
Chr10:94396944
GRCh38:
Chr10:92637187
KIF11V627Lnot specifiedUncertain significance
(May 4, 2015)
criteria provided, single submitterVCV000211272
64.
GRCh37:
Chr10:94353132-94353134
GRCh38:
Chr10:92593375-92593377
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Sep 24, 2015)
criteria provided, single submitterVCV000211271
65.
GRCh37:
Chr10:94366149
GRCh38:
Chr10:92606392
KIF11D69NLong QT syndromeLikely benignno assertion criteria providedVCV000207836
66.
GRCh37:
Chr10:94373133
GRCh38:
Chr10:92613376
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Dec 1, 2014)
no assertion criteria providedVCV000192301
67.
GRCh37:
Chr10:94390035
GRCh38:
Chr10:92630278
KIF11E470*Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Dec 1, 2014)
no assertion criteria providedVCV000192300
68.
GRCh37:
Chr10:94373133
GRCh38:
Chr10:92613376
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Nov 1, 2014)
no assertion criteria providedVCV000183017
69.
GRCh37:
Chr10:94405152-94405153
GRCh38:
Chr10:92645395-92645396
KIF11F767fsMicrocephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Nov 1, 2014)
no assertion criteria providedVCV000183016
70.
GRCh37:
Chr10:94403676-97230894
GRCh38:
Chr10:92643919-95471137
See casesPathogenic
(Nov 4, 2011)
no assertion criteria providedVCV000148854
71.
GRCh37:
Chr10:94386437-99514859
GRCh38:
Chr10:92626680-97755102
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058776
72.
GRCh37:
Chr10:94372802
GRCh38:
Chr10:92613045
KIF11S235CMicrocephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Feb 10, 2012)
no assertion criteria providedVCV000029773
73.
GRCh37:
Chr10:94405401
GRCh38:
Chr10:92645644
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Feb 10, 2012)
no assertion criteria providedVCV000029772
74.
GRCh37:
Chr10:94392340
GRCh38:
Chr10:92632583
KIF11Q531fsMicrocephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Feb 10, 2012)
no assertion criteria providedVCV000029771
75.
GRCh37:
Chr10:94409651
GRCh38:
Chr10:92649894
KIF11R944CInborn genetic diseases, Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationUncertain significance
(Jul 31, 2017)
criteria provided, single submitterVCV000029770
76.
GRCh37:
Chr10:94376500-94376501
GRCh38:
Chr10:92616743-92616744
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Feb 10, 2012)
no assertion criteria providedVCV000029769
77.
GRCh37:
Chr10:94381172
GRCh38:
Chr10:92621415
KIF11R387*Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationPathogenic
(Feb 10, 2012)
no assertion criteria providedVCV000029768
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