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Items: 26

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr15:31115047-102354857
AQP9, B2M, CAPN3, CYP1A2, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, SAXO2, FAM98B, PLA2G4D, LINC00928, FAM169B, FBXL22, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, INSYN1, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, SHC4, CTXN2, LINC02694, C15orf54, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, C15orf56, PHGR1, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, GOLGA8O, LOC100128979, ANKRD63, GOLGA6L3, JMJD7, PLA2G4B, ARPIN-AP3S2, ST20-MTHFS, MYZAP, FAH, GATM, CTSH, CYP1A1, ONECUT1, IDH2, LOXL1, LTK, MYO5A, MYO9A, BBS4, IVD, LIPC, GCHFR, PDIA3, BCL2A1, BLM, CA12, BNC1, BNIP2, BUB1B, EPB42, ETFA, GTF2A2, HDC, ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, FBN1, FES, FGF7, GABPB1, GALK2, GANC, IGF1R, IL16, IREB2, ISG20, ISLR, ITPKA, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, HEXA, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, NEDD4, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TLE3, TP53BP1, TPM1, TYRO3, SLC30A4, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC1, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, IDH3A, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, GREM1, MRPL46, RNU6-1, RNU5A-1, NPTN, FOXB1, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, DLL4, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, CYP11A1, CYP19A1, DUT, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, C15orf41, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, CASC4, LACTB, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A
not providedPathogenic
(Apr 5, 2018)
criteria provided, single submitterVCV000560049
2.
GRCh37:
Chr15:75600108-76063285
CSPG4, MAN2C1, PTPN9, SNUPN, SIN3A, COMMD4, IMP3, NEIL1, ODF3L1, SNX33Witteveen-kolk syndromeUncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV000560141
3.
GRCh37:
Chr15:75648132-76102251
CSPG4, MAN2C1, PTPN9, SNUPN, SIN3A, IMP3, ODF3L1, SNX33not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625749
4.
GRCh37:
Chr15:20071673-102461162
EID1, NPAP1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, GREM1, MRPL46, RNU6-1, RNU5A-1, NPTN, FOXB1, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, MAGEL2, DLL4, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, NSMCE3, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, ATP10A, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, NIPA2, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, C15orf41, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, CASC4, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, NIPA1, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, PWAR1, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, GOLGA6L2, OR4N4, SAXO2, FAM98B, PLA2G4D, LINC00928, GOLGA6L1, FAM169B, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, INSYN1, OR4M2, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, LINC02694, C15orf54, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, C15orf56, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA6L6, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, GOLGA6L3, JMJD7, PLA2G4B, POTEB2, PWAR6, ARPIN-AP3S2, ST20-MTHFS, MYZAP, POTEB, ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, APBA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IPW, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, MYO5A, MYO9A, OCA2, NDN, NEDD4, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNRPN, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TJP1, TLE3, TP53BP1, TPM1, TYRO3, UBE3A, MKRN3, SLC30A4, AP3B2, PWAR5, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC2, HERC1, SNURF, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, CYFIP1, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, FAM189A1, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000614520
5.
GRCh37:
Chr15:20016811-102493540
ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, APBA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IPW, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, MYO5A, MYO9A, NDN, NEDD4, NEO1, NMB, NTRK3, OAZ2, OCA2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNRPN, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TJP1, TLE3, TP53BP1, TPM1, TYRO3, UBE3A, MKRN3, SLC30A4, AP3B2, PWAR5, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC2, HERC1, SNURF, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, CYFIP1, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, FAM189A1, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, NPAP1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, GREM1, MRPL46, OR4F4, RNU6-1, RNU5A-1, NPTN, FOXB1, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, MAGEL2, DLL4, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, NSMCE3, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, ATP10A, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, NIPA2, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, C15orf41, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, CASC4, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, NIPA1, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, PWAR1, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, GOLGA6L2, OR4N4, SAXO2, FAM98B, PLA2G4D, LINC00928, GOLGA6L1, FAM169B, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, INSYN1, OR4M2, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, LINC02694, C15orf54, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, C15orf56, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA6L6, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, GOLGA6L3, JMJD7, PLA2G4B, POTEB2, PWAR6, ARPIN-AP3S2, ST20-MTHFS, MYZAP, POTEB
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000614519
6.
GRCh37:
Chr15:75630988-76053570
CSPG4, MAN2C1, PTPN9, SNUPN, SIN3A, COMMD4, IMP3, NEIL1, ODF3L1, SNX33not providedBenign
(Dec 17, 2010)
no assertion criteria providedVCV000602186
7.
GRCh37:
Chr15:72943184-76072324
not providedPathogenic
(Apr 9, 2018)
no assertion criteria providedVCV000564215
8.
GRCh37:
Chr15:71329220-102270758
ACAN, ALDH1A3, ANPEP, BBS4, BCL2A1, BLM, BNC1, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, MYO9A, NEO1, NMB, NTRK3, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RPS17, SH3GL3, SNRPA1, NR2F2, AP3B2, ST8SIA2, SEMA7A, PEX11A, IQGAP1, PSTPIP1, PRC1, SLC28A1, COX5A, STOML1, HOMER2, ZNF592, SV2B, ARNT2, NR2E3, HCN4, SCAMP2, SNUPN, TSPAN3, AP3S2, HMG20A, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, MORF4L1, ABHD2, ADAMTS7, AKAP13, CHSY1, TBC1D2B, MESD, ACSBG1, MINAR1, SYNM, TMED3, SEC11A, ARIH1, SIN3A, ULK3, FBXO22, VPS33B, MRPL46, NPTN, SLCO3A1, SCAPER, NGRN, RHCG, BTBD1, TM6SF1, ZFAND6, LRRC49, RPP25, COMMD4, ZSCAN2, DET1, LINS1, FANCI, IMP3, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, ISL2, TTC23, MRPS11, EFL1, NEIL1, LRRK1, LMAN1L, PEAK1, THSD4, CCDC33, EDC3, TM2D3, WDR61, CD276, STARD5, ADPGK, RAMAC, MEX3B, LINGO1, WDR73, UBL7, TICRR, RCCD1, ARRDC4, UBE2Q2, C15orf40, SENP8, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, LYSMD4, PGPEP1L, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, CT62, GRAMD2A, CERS3, SNX33, REC114, SAXO2, LINC00928, FAM169B, TMEM202, GOLGA6A, TMC3, ZNF774, ARPIN, KIF7, ZNF710, HDDC3, INSYN1, ANKRD34C, GDPGP1, ST20, FAM174B, MIR184, MIR9-3, CPLX3, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, GOLGA6L3, ARPIN-AP3S2, ST20-MTHFS
not providedPathogenic
(Mar 12, 2018)
no assertion criteria providedVCV000564214
9.
GRCh38:
Chr15:74071509-77878298
SchizophreniaLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545183
10.
GRCh37:
Chr15:22770422-102429112
ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, APBA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IPW, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, MYO5A, MYO9A, NDN, NEDD4, NEO1, NMB, NTRK3, OAZ2, OCA2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNRPN, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TJP1, TLE3, TP53BP1, TPM1, TYRO3, UBE3A, MKRN3, SLC30A4, AP3B2, PWAR5, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC2, HERC1, SNURF, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, CYFIP1, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, FAM189A1, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, NPAP1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, GREM1, MRPL46, RNU6-1, RNU5A-1, NPTN, FOXB1, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, MAGEL2, DLL4, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, NSMCE3, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, ATP10A, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, NIPA2, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, C15orf41, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, CASC4, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, NIPA1, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, PWAR1, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, GOLGA6L2, SAXO2, FAM98B, PLA2G4D, LINC00928, FAM169B, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, INSYN1, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, LINC02694, C15orf54, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, C15orf56, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, GOLGA6L3, JMJD7, PLA2G4B, PWAR6, ARPIN-AP3S2, ST20-MTHFS, MYZAP
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000442893
11.
GRCh37:
Chr15:22770422-102429112
MAGEL2, DLL4, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, NSMCE3, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, ATP10A, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, NIPA2, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, C15orf41, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, CASC4, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, NIPA1, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, PWAR1, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, GOLGA6L2, SAXO2, FAM98B, PLA2G4D, LINC00928, FAM169B, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, INSYN1, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, LINC02694, C15orf54, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, C15orf56, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, GOLGA6L3, JMJD7, PLA2G4B, PWAR6, ARPIN-AP3S2, ST20-MTHFS, MYZAP, ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, APBA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IPW, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, MYO5A, MYO9A, OCA2, NDN, NEDD4, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNRPN, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TJP1, TLE3, TP53BP1, TPM1, TYRO3, UBE3A, MKRN3, SLC30A4, AP3B2, PWAR5, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC2, HERC1, SNURF, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, CYFIP1, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, FAM189A1, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, NPAP1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, GREM1, MRPL46, RNU6-1, RNU5A-1, NPTN, FOXB1, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000442892
12.
GRCh37:
Chr15:72958539-76063285
not providednot providedno assertion providedVCV000441056
13.
GRCh37:
Chr15:20733395-102511616
TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, INSYN1, OR4M2, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, LINC02694, C15orf54, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, C15orf56, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA6L6, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, GOLGA6L3, JMJD7, PLA2G4B, POTEB2, PWAR6, ARPIN-AP3S2, ST20-MTHFS, MYZAP, POTEB, ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, APBA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IPW, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, MYO5A, MYO9A, NDN, NEDD4, NEO1, NMB, NTRK3, OAZ2, OCA2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNRPN, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TJP1, TLE3, TP53BP1, TPM1, TYRO3, UBE3A, MKRN3, SLC30A4, AP3B2, PWAR5, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC2, HERC1, SNURF, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, CYFIP1, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, FAM189A1, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, NPAP1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, GREM1, MRPL46, OR4F4, RNU6-1, RNU5A-1, NPTN, FOXB1, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, MAGEL2, DLL4, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, NSMCE3, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, ATP10A, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, NIPA2, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, C15orf41, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, CASC4, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, NIPA1, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, PWAR1, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, GOLGA6L2, OR4N4, SAXO2, FAM98B, PLA2G4D, LINC00928, GOLGA6L1, FAM169B, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50
See casesPathogenicno assertion criteria providedVCV000395145
14.
GRCh37:
Chr15:41745084-102354798
TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, SPPL2A, LINGO1, WDR73, CGNL1, FRMD5, UBL7, TICRR, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CASC4, LACTB, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, ODF3L1, ADAL, ADAMTS17, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, PLA2G4F, LRRC57, LYSMD2, WDR72, SNX33, SLC24A5, PRTG, REC114, SAXO2, PLA2G4D, LINC00928, FAM169B, FBXL22, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, TNFAIP8L3, C2CD4B, INSYN1, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, SHC4, CTXN2, ST20, FAM174B, DUOXA2, MIR184, MIR9-3, UNC13C, CKMT1A, CPLX3, SERINC4, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, LOC100128979, GOLGA6L3, JMJD7, PLA2G4B, ARPIN-AP3S2, ST20-MTHFS, MYZAP, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, CA12, CAPN3, CHD2, CHRNA3, CHRNA5, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GALK2, GANC, GATM, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, ITPKA, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MFAP1, MFGE8, MPI, MYO1E, MYO5A, MYO9A, NEDD4, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, SH3GL3, SLC12A1, SNRPA1, SNX1, SORD, TCF12, NR2F2, TLE3, TP53BP1, TPM1, TYRO3, SLC30A4, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC1, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, SECISBP2L, PCLAF, LCMT2, SV2B, ARNT2, USP3, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, CEP152, MAPKBP1, ZNF609, TBC1D2B, RTF1, MESD, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, MRPL46, RNU6-1, RNU5A-1, NPTN, FOXB1, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, RSL24D1, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, LINS1, FANCI, IMP3, LARP6, MNS1, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, FAM214A, C15orf39, THAP10, RGMA, WDR93, PARP6, DTWD1, FAM219B, ADAMTSL3, CEMIP, STARD9, ALPK3, ISLR2, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11
See casesPathogenicno assertion criteria providedVCV000394887
15.
GRCh37:
Chr15:59297293-102480888
PIF1, CCDC33, EDC3, TM2D3, PLEKHO2, WDR61, CD276, STARD5, INTS14, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, MEGF11, LINGO1, WDR73, UBL7, TICRR, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, LACTB, DIS3L, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, C2CD4A, LYSMD4, FAM81A, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, CT62, GRAMD2A, LCTL, CERS3, SPESP1, SNX33, REC114, SAXO2, LINC00928, FAM169B, FBXL22, TMEM202, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, KIF7, ZNF710, HDDC3, C2CD4B, INSYN1, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, MIR184, MIR9-3, CPLX3, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, LOC100128979, GOLGA6L3, ARPIN-AP3S2, ST20-MTHFS, ACAN, ALDH1A3, ANPEP, ANXA2, BBS4, BCL2A1, BLM, BNC1, BNIP2, CA12, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, GTF2A2, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, SMAD3, SMAD6, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, MYO1E, MYO9A, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PPIB, MAP2K1, MAP2K5, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, SH3GL3, SNRPA1, SNX1, NR2F2, TLE3, TPM1, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, RAB11A, PEX11A, IQGAP1, HERC1, PSTPIP1, PRC1, CCNB2, SLC28A1, SLC24A1, GCNT3, TRIP4, COX5A, STOML1, HOMER2, KIF23, IGDCC3, ZNF592, PCLAF, SV2B, ARNT2, USP3, NR2E3, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, CLPX, MORF4L1, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, ZNF609, TBC1D2B, MESD, ACSBG1, MINAR1, SYNM, TMED3, SEC11A, DAPK2, ARIH1, SIN3A, ULK3, GLCE, FBXO22, VPS33B, MRPL46, OR4F4, RNU6-1, RNU5A-1, NPTN, FOXB1, SLCO3A1, SCAPER, RPS27L, RASL12, SPG21, NGRN, RHCG, HACD3, RAB8B, BTBD1, TM6SF1, CSNK1G1, ZFAND6, RNF111, VPS13C, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, LINS1, FANCI, IMP3, LARP6, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, THAP10, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, IGDCC4, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, TTC23, MRPS11, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, PEAK1, SNX22, THSD4
not providedLikely pathogenic
(Jul 31, 2016)
criteria provided, single submitterVCV000369835
16.
GRCh37:
Chr15:74368270-78122737
See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitterVCV000254015
17.
GRCh37:
Chr15:75562397-76030552
See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitterVCV000253861
18.
GRCh37:
Chr15:72998989-76069787
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitterVCV000253605
19.
GRCh37:
Chr15:64637227-102509910
ACAN, ALDH1A3, ANPEP, BBS4, BCL2A1, BLM, BNC1, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, SMAD3, SMAD6, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, MYO9A, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, MAP2K1, MAP2K5, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RPL4, RPLP1, RPS17, SH3GL3, SNRPA1, NR2F2, TLE3, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, RAB11A, PEX11A, IQGAP1, PSTPIP1, PRC1, SLC28A1, SLC24A1, TRIP4, COX5A, STOML1, HOMER2, KIF23, IGDCC3, ZNF592, PCLAF, SV2B, ARNT2, NR2E3, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, CLPX, MORF4L1, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, ZNF609, TBC1D2B, MESD, ACSBG1, MINAR1, SYNM, TMED3, SEC11A, ARIH1, SIN3A, ULK3, GLCE, FBXO22, VPS33B, MRPL46, OR4F4, RNU6-1, RNU5A-1, NPTN, SLCO3A1, SCAPER, RASL12, SPG21, NGRN, RHCG, HACD3, BTBD1, TM6SF1, CSNK1G1, ZFAND6, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, LINS1, FANCI, IMP3, LARP6, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, THAP10, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, IGDCC4, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, TTC23, MRPS11, NOX5, EFL1, NEIL1, LRRK1, AAGAB, LMAN1L, PEAK1, THSD4, PIF1, CCDC33, EDC3, TM2D3, PLEKHO2, WDR61, CD276, STARD5, INTS14, ADPGK, RAMAC, MEX3B, MEGF11, LINGO1, WDR73, UBL7, TICRR, RCCD1, CALML4, ARRDC4, UBE2Q2, DIS3L, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, LYSMD4, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, CT62, GRAMD2A, LCTL, CERS3, SPESP1, SNX33, REC114, SAXO2, LINC00928, FAM169B, TMEM202, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, KIF7, ZNF710, HDDC3, INSYN1, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, MIR184, MIR9-3, CPLX3, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, GOLGA6L3, ARPIN-AP3S2, ST20-MTHFS
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitterVCV000253516
20.
GRCh37:
Chr15:72447290-102461201
GRCh38:
Chr15:72154949-101920998
ACAN, ALDH1A3, ANPEP, BBS4, BCL2A1, BLM, BNC1, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, NEO1, NMB, NTRK3, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RPS17, SH3GL3, SNRPA1, NR2F2, AP3B2, ST8SIA2, SEMA7A, PEX11A, IQGAP1, PSTPIP1, PRC1, SLC28A1, COX5A, STOML1, HOMER2, ZNF592, SV2B, ARNT2, HCN4, SCAMP2, SNUPN, TSPAN3, AP3S2, HMG20A, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, MORF4L1, ABHD2, ADAMTS7, AKAP13, CHSY1, TBC1D2B, MESD, ACSBG1, MINAR1, SYNM, TMED3, SEC11A, ARIH1, SIN3A, ULK3, FBXO22, VPS33B, MRPL46, NPTN, SLCO3A1, SCAPER, HDGFL3, NGRN, RHCG, BTBD1, TM6SF1, ZFAND6, RPP25, COMMD4, ZSCAN2, DET1, LINS1, FANCI, IMP3, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, ISL2, TTC23, MRPS11, EFL1, NEIL1, LRRK1, LMAN1L, PEAK1, HEXA-AS1, CCDC33, EDC3, TM2D3, WDR61, CD276, STARD5, LINC00597, ADPGK, RAMAC, MEX3B, LINGO1, WDR73, UBL7, TICRR, RCCD1, LOC91450, ARRDC4, LINC00923, UBE2Q2, C15orf40, TARSL2, HIGD2B, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, LYSMD4, PGPEP1L, LINC00924, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, LINC00052, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, GRAMD2A, CERS3, LINGO1-AS1, MIR9-3HG, SNX33, REC114, LINC01579, ST20-AS1, LINC00927, CPEB1-AS1, SAXO2, LOC283731, NTRK3-AS1, LINC00928, FAM169B, TMEM202, GOLGA6A, TMC3, ZNF774, ARPIN, KIF7, ZNF710, HDDC3, INSYN1, SPATA41, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, LINC01197, MIR184, MIR7-2, MIR9-3, UBL7-AS1, GOLGA6L9, CPLX3, GOLGA6L4, NR2F2-AS1, SH2D7, GOLGA6L10, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, MIR549A, MIR630, MIR631, AGBL1-AS1, ANKRD34C-AS1, LOC100128108, LOC100129540, GOLGA6L3, LINC00930, TRK-CTT1-2, TRC-GCA5-1, TRR-TCG1-1, ADPGK-AS1, LOXL1-AS1, MIR1276, MIR1179, MIR1469, PIRC76, MIR3174, MIR3175, MIR4313, MIR3713, SNHG21, UBE2Q2L, LINC00933, PRC1-AS1, LINC01578, LOC100507472, ARPIN-AP3S2, ST20-MTHFS, MIR4514, MIR4513, MIR3529, MIR4515, MIR4714, SPATA8-AS1, MIR5009, MIR5572, MIR5094, MIR548AP, CTXND1, NPTN-IT1, CRTC3-AS1, VPS33B-DT, CRAT37, LINC01581, LINC01580, LINC02207, LINC02254, LOC101927310, LINC01582, LINC02348, LOC101927751, INSYN1-AS1, LOC101929439, LOC101929457, LINGO1-AS2, LOC101929586, TMC3-AS1, LOC101929679, LINC01583, LINC01584, LINC01586, LINC01585, MIR6881, MIR6882, MIR7706, MIR6766, CERS3-AS1, LOC102723335, LINC02259, LOC102724034, LOC102724452, LOC103171574, IRAIN, LUNAR1, LOC104613533, LOC105369201, LOC105369212, TMEM202-AS1, LINC02255, LOC105370954, IDH2-DT, LOC105370980, LINC02251, LINC02351, LINC02244, PCSK6-AS1, LOC105371031, LOC105376731, LOC108251791, LOC108281191, LOC108964933, ZNF710-AS1, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111413032, LOC111718493, LOC111822949, LOC112272574, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC112272621, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, MIR11181, MIR12135, LOC113939942, LOC113939947, LOC114827858
See casesPathogenic
(Sep 10, 2012)
no assertion criteria providedVCV000154952
21.
GRCh37:
Chr15:60120659-102461201
GRCh38:
Chr15:59828460-101920998
ACAN, ALDH1A3, ANPEP, ANXA2, BBS4, BCL2A1, BLM, BNC1, CA12, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, SMAD3, SMAD6, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, MYO9A, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PPIB, MAP2K1, MAP2K5, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, SH3GL3, SNRPA1, SNX1, NR2F2, TLE3, TPM1, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, RAB11A, PEX11A, IQGAP1, HERC1, PSTPIP1, PRC1, SLC28A1, SLC24A1, TRIP4, COX5A, STOML1, HOMER2, KIF23, IGDCC3, ZNF592, PCLAF, SV2B, ARNT2, USP3, NR2E3, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, CLPX, MORF4L1, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, ZNF609, TBC1D2B, MESD, ACSBG1, MINAR1, SYNM, TMED3, SEC11A, DAPK2, ARIH1, SIN3A, ULK3, GLCE, FBXO22, VPS33B, MRPL46, RNU6-1, RNU5A-1, RNU5B-1, NPTN, FOXB1, SLCO3A1, SCAPER, HDGFL3, RPS27L, RASL12, SPG21, NGRN, RHCG, HACD3, RAB8B, BTBD1, TM6SF1, CSNK1G1, ZFAND6, VPS13C, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, LINS1, FANCI, IMP3, LARP6, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, THAP10, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, IGDCC4, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, TTC23, MRPS11, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, PEAK1, SNX22, THSD4, ANP32A-IT1, HEXA-AS1, PIF1, CCDC33, EDC3, TM2D3, PLEKHO2, WDR61, CD276, STARD5, INTS14, LINC00597, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, MEGF11, LINGO1, WDR73, UBL7, TICRR, RCCD1, LOC91450, CALML4, ARRDC4, LINC00923, UBE2Q2, LACTB, DIS3L, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, HIGD2B, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, LOC145694, C2CD4A, LYSMD4, PGPEP1L, LINC00924, DRAIC, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, LINC00052, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, CT62, GRAMD2A, MGC15885, LCTL, CERS3, SPESP1, LINGO1-AS1, MIR9-3HG, SNX33, EWSAT1, REC114, LINC01579, ST20-AS1, LINC00927, CPEB1-AS1, SAXO2, LOC283731, NTRK3-AS1, LINC00928, FAM169B, FBXL22, TMEM202, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, KIF7, ZNF710, HDDC3, C2CD4B, INSYN1, SPATA41, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, LINC01197, MIR184, MIR190A, MIR7-2, MIR9-3, LINC00593, UBL7-AS1, GOLGA6L9, MIR422A, CPLX3, SNORD16, SNORD18A, SNORD18B, SNORD18C, GOLGA6L4, NR2F2-AS1, SH2D7, GOLGA6L10, GOLGA6C, GOLGA6D, SCARNA15, SCARNA14, FBXO22-AS1, MIR549A, MIR629, MIR630, MIR631, AGBL1-AS1, ANKRD34C-AS1, LOC100128108, LOC100128979, LOC100129540, USP3-AS1, GOLGA6L3, LINC00930, TRK-CTT1-2, TRC-GCA5-1, TRR-TCG1-1, TRQ-CTG1-4, ADPGK-AS1, LOXL1-AS1, MIR1276, MIR1272, MIR1179, MIR1469, PIRC76, MIR3174, MIR4311, MIR4312, MIR3175, MIR4313, MIR3713, SNHG21, UBE2Q2L, LINC02349, IQCH-AS1, LINC00933, PRC1-AS1, LINC01578, LOC100507472, ARPIN-AP3S2, ST20-MTHFS, MIR4512, MIR4514, MIR4513, MIR3529, MIR4511, MIR4515, MIR4714, SPATA8-AS1, MIR5009, MIR5572, MIR5094, MIR548AP, CTXND1, RORA-AS2, NPTN-IT1, CRTC3-AS1, VPS33B-DT, CRAT37, LINC01581, LINC01580, LINC02207, LINC02254, LOC101927310, LINC01582, LINC02348, LOC101927751, RORA-AS1, LOC101928907, LOC101928988, LOC101929076, LINC02204, THSD4-AS2, THSD4-AS1, INSYN1-AS1, LOC101929439, LOC101929457, LINGO1-AS2, LOC101929586, TMC3-AS1, LOC101929679, LINC01583, LINC01584, LINC01586, LINC01585, MIR6085, MIR6881, MIR6882, MIR7706, MIR8067, MIR6766, LINC01169, CERS3-AS1, LOC102723335, LINC02568, LINC02206, LOC102723493, LINC02259, LOC102724034, LOC102724452, LOC103171574, PCAT29, IRAIN, SALRNA3, SALRNA2, LUNAR1, LOC104613533, LOC105369201, LOC105369212, LINC02205, TMEM202-AS1, LINC02255, LOC105370954, IDH2-DT, LOC105370980, LINC02251, LINC02351, LINC02244, PCSK6-AS1, LOC105371031, LOC105376731, LOC107984784, LOC107988046, LOC107992387, LOC108251791, LOC108281191, LOC108964933, SNORA24B, SNORD13E, ZNF710-AS1, LOC110120860, LOC110120861, LOC110120917, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121491, LOC110121492, LOC110467515, LOC110467516, LOC110467517, TPM1-AS,