| - GRCh37:
- Chr15:41523632-41523634
- GRCh38:
- Chr15:41231434-41231436
| CHP1 | K19del | Spastic ataxia 9, autosomal recessive | Pathogenic (Feb 25, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr15:41570961
- GRCh38:
- Chr15:41278763
| CHP1 | | not provided | Likely benign (Aug 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:32964879-91358519
| ALDH1A2, ALPK3, ANKDD1A, CIMAP1C, GLDN, GNB5, MAPK6, MAPKBP1, PPP1R14D, SNX1, SNX22, ZSCAN2, ZSCAN29, TBC1D21, TBC1D2B, TCF12, SPESP1, SPG11, SPG21, SPINT1, SPPL2A, PRTG, PSMA4, PSTPIP1, PTPN9, RAB8B, MIR184, MIR9-3, MNS1, MORF4L1, MPI, MRPL46, MRPS11, RASGRF1, RASGRP1, PYGO1, RAB11A, RAB27A, RAD51, RAMAC, SNX33, SORD, STARD5, STARD9, STOML1, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA8A, GOLGA8B, GOLM2, GPR176, GRAMD2A, CLK3, CLN6, HERC1, HEXA, HCN4, HDC, STRA6, STRC, MEGF11, MTFMT, MTHFS, MYEF2, MFGE8, MGA, ANKRD34C, AQP9, AQR, ARID3B, ARIH1, ARNT2, AP3B2, ANKRD63, ANP32A, ANPEP, AP3S2, AP4E1, APH1B, ANXA2, MINAR1, MINDY2, CKMT1A, CKMT1B, COPS2, CORO2B, CPEB1, CPLX3, CLPX, COMMD4, COX5A, CRABP1, AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ACTC1, ADAL, ADAM10, ADAMTS7, ADAMTSL3, ADPGK, AEN, AFG2B, AGBL1, AKAP13, ARPIN, ARPIN-AP3S2, ARPP19, ATOSA, ATP8B4, AVEN, B2M, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BMF, BNC1, BNIP2, BTBD1, BUB1B, C15orf39, C15orf40, C15orf48, C15orf61, C15orf62, C2CD4A, C2CD4B, CA12, CALML4, CAPN3, CATSPER2, CCDC32, CCDC33, CCDC9B, CCNB2, CCNDBP1, CCPG1, CD276, CDAN1, CDIN1, CELF6, CEMIP, CEP152, CFAP161, CGNL1, CHAC1, CHP1, CHRM5, CHRNA3, CHRNA5, CHRNB4, CHST14, CIAO2A, CIB1, CIB2, CILP, CRTC3, CSK, CSNK1G1, CSPG4, CT62, CTDSPL2, CTSH, CTXN2, CYP11A1, CYP19A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DISP2, DLL4, DMXL2, DNAAF4, DNAJA4, DNAJC17, DPH6, DPP8, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EDC3, EFL1, EHD4, EID1, EIF2AK4, EIF3J, ELL3, EMC4, EMC7, EPB42, ETFA, EXD1, FAH, FAM219B, FAM227B, FAM81A, FAM98B, FANCI, FBN1, FBXL22, FBXO22, FEM1B, FGF7, FOXB1, FRMD5, FSD2, FSIP1, GABPB1, GALK2, GANC, GATM, GCHFR, GCNT3, GDPGP1, GJD2, GLCE, GREM1, GTF2A2, HACD3, HAPLN3, HAUS2, HMG20A, HOMER2, HYKK, HYPK, ICE2, IDH2, IDH3A, IGDCC3, IGDCC4, IL16, IMP3, INO80, INSYN1, INTS14, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, ITPKA, IVD, JMJD7, KATNBL1, KBTBD13, KIF23, KIF7, KLHL25, KNL1, KNSTRN, LACTB, LARP6, LCMT2, LCTL, LDHAL6B, LEO1, LINC00928, LINC02694, LINC02915, LINGO1, LIPC, LMAN1L, LOXL1, LPCAT4, LRRC49, LRRC57, LTK, LYSMD2, MAN2C1, MAP1A, MAP2K1, MAP2K5, MEIS2, MESD, MESP1, MESP2, MEX3B, MFAP1, MYO1E, MYO5A, MYO5C, MYO9A, MYZAP, NDUFAF1, NEDD4, NEIL1, NEO1, NGRN, NMB, NOP10, NOX5, NPTN, NR2E3, NRG4, NTRK3, NUSAP1, NUTM1, OAZ2, OIP5, ONECUT1, PAK6, PAK6-AS1, PAQR5, PARP16, PARP6, PATL2, PCLAF, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGBD4, PHGR1, PIAS1, PIERCE2, PIF1, PIGB, PKM, PLA2G4B, PLA2G4D, PLA2G4E, PLA2G4F, PLCB2, PLEKHO2, PLIN1, PML, POLG, POLR2M, PPCDC, PPIB, PPIP5K1, RASL12, RBPMS2, RCN2, REC114, RFX7, RHCG, RHOV, RLBP1, RMDN3, RNF111, RNU5A-1, RNU6-1, RORA, RPAP1, RPL4, RPLP1, RPP25, RPS17, RPS27L, RPUSD2, RSL24D1, RTF1, RYR3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SCG3, SCG5, SEC11A, SECISBP2L, SEMA4B, SEMA6D, SEMA7A, SENP8, SERF2, SERINC4, SH2D7, SH3GL3, SHC4, SHF, SIN3A, SKIC8, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNUPN, SPRED1, SPTBN5, SQOR, SRP14, ST20, ST20-MTHFS, TERB2, TEX9, TGM5, TGM7, THAP10, THBS1, THSD4, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM6SF1, TMC3, TMCO5A, TMED3, TMEM202, TMEM266, TMEM62, TMEM87A, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TPM1, TRIM69, TRIP4, TRPM7, TSPAN3, TTBK2, TUBGCP4, TYRO3, UACA, UBAP1L, UBE2Q2, UBL7, UBR1, ULK3, UNC13C, USP3, USP50, USP8, VPS13C, VPS18, VPS39, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZFYVE19, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZNF774, ZWILCH | | Familial colorectal cancer, Bloom syndrome | Uncertain significance (Feb 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41412285-41645212
| NUSAP1, OIP5, EXD1, CHP1 | | not provided | Uncertain significance (Jun 27, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr15:20071673-102461162
| AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ACTC1, ADAL, ADAM10, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, AEN, AFG2B, AGBL1, AKAP13, ALDH1A2, ALDH1A3, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANP32A, ANPEP, ANXA2, AP3B2, AP3S2, AP4E1, APBA2, APH1B, AQP9, AQR, ARHGAP11A, ARHGAP11B, ARID3B, ARIH1, ARNT2, ARPIN, ARPIN-AP3S2, ARPP19, ARRDC4, ASB7, ATOSA, ATP10A, ATP8B4, AVEN, B2M, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BMF, BNC1, BNIP2, BTBD1, BUB1B, C15orf32, C15orf39, C15orf40, C15orf48, C15orf61, C15orf62, C2CD4A, C2CD4B, CA12, CALML4, CAPN3, CATSPER2, CCDC32, CCDC33, CCDC9B, CCNB2, CCNDBP1, CCPG1, CD276, CDAN1, CDIN1, CELF6, CEMIP, CEP152, CERS3, CFAP161, CGNL1, CHAC1, CHD2, CHP1, CHRFAM7A, CHRM5, CHRNA3, CHRNA5, CIB1, CHRNA7, CHRNB4, CHST14, CHSY1, CIAO2A, CIB2, CILP, CKMT1A, CKMT1B, CLK3, CLN6, CLPX, COMMD4, COPS2, CORO2B, COX5A, CPEB1, CPLX3, CRABP1, CRTC3, CSK, CSNK1G1, CSPG4, CT62, CTDSPL2, CTSH, CTXN2, CYFIP1, CYP11A1, CYP19A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DISP2, DLL4, DMXL2, DNAAF4, DNAJA4, DNAJC17, DPH6, DPP8, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EDC3, EFL1, EHD4, EID1, EIF2AK4, EIF3J, ELL3, EMC4, EMC7, ENTREP2, EPB42, ETFA, EXD1, FAH, FAM174B, FAM219B, FAM227B, FAM81A, FAM98B, FAN1, FANCI, FBN1, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FES, FGF7, FOXB1, FRMD5, FSD2, FSIP1, FURIN, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, GCNT3, GDPGP1, GJD2, GLCE, GLDN, GNB5, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L1, GOLGA6L2, GOLGA6L6, GOLGA8A, GOLGA8B, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, GOLM2, GPR176, GRAMD2A, GREM1, GTF2A2, HACD3, HAPLN3, HAUS2, HCN4, HDC, HDDC3, HERC1, HERC2, HEXA, HMG20A, HOMER2, HYKK, HYPK, ICE2, IDH2, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INO80, INSYN1, INTS14, IPW, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, ITPKA, IVD, JMJD7, KATNBL1, KBTBD13, KIF23, KIF7, KLF13, KLHL25, KNL1, KNSTRN, LACTB, LARP6, LCMT2, LCTL, LDHAL6B, LEO1, LINC00928, LINC02694, LINC02915, LINGO1, LINS1, LIPC, LMAN1L, LOC100128979, LOXL1, LPCAT4, LRRC28, LRRC49, LRRC57, LRRK1, LTK, LYSMD2, LYSMD4, MAGEL2, MAN2A2, MAN2C1, MAP1A, MAP2K1, MAP2K5, MAPK6, MAPKBP1, MCTP2, MEF2A, MEGF11, MEIS2, MESD, MESP1, MESP2, MEX3B, MFAP1, MFGE8, MGA, MINAR1, MINDY2, MIR184, MIR211, MIR9-3, MKRN3, MNS1, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MTMR10, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, MYZAP, NDN, NDUFAF1, NEDD4, NEIL1, NEO1, NGRN, NIPA1, NIPA2, NMB, NOP10, NOX5, NPAP1, NPTN, NR2E3, NR2F2, NRG4, NSMCE3, NTRK3, NUSAP1, NUTM1, OAZ2, OCA2, ODF3L1, OIP5, ONECUT1, OR4F15, OR4F6, OR4M2, OR4N4, PATL2, OTUD7A, PAK6, PAK6-AS1, PAQR5, PARP16, PARP6, PCLAF, PCSK6, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGBD4, PGPEP1L, PHGR1, PIAS1, PIERCE2, PIF1, PIGB, PKM, PLA2G4B, PLA2G4D, PLA2G4E, PLA2G4F, PLCB2, PLEKHO2, PLIN1, PML, POLG, POLR2M, POTEB, POTEB2, PPCDC, PPIB, PTPN9, PPIP5K1, PPP1R14D, PRC1, PRTG, PSMA4, PSTPIP1, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PYGO1, RAB11A, RAB27A, RAB8B, RAD51, RAMAC, RASGRF1, RASGRP1, RASL12, RBPMS2, RCCD1, RCN2, REC114, RFX7, RGMA, RHCG, RHOV, RLBP1, RMDN3, RNF111, RNU5A-1, RNU6-1, RORA, RPAP1, RPL4, RPLP1, RPP25, RPS17, RPS27L, RPUSD2, RSL24D1, RTF1, RYR3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SCG3, SCG5, SEC11A, SECISBP2L, SELENOS, SEMA4B, SEMA6D, SEMA7A, SENP8, SERF2, SERINC4, SH2D7, SH3GL3, SHC4, SHF, SIN3A, SKIC8, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLCO3A1, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNORD115-1, SNORD116-1, SNRPA1, SNRPN, SNUPN, SNURF, SNX1, SNX22, SNX33, SORD, SPATA8, SPESP1, SPG11, SPG21, SPINT1, SPPL2A, SPRED1, SPTBN5, SQOR, SRP14, ST20, ST20-MTHFS, ST8SIA2, STARD5, STARD9, STOML1, STRA6, STRC, SV2B, SYNM, TARS3, TBC1D21, TBC1D2B, TCF12, TERB2, TEX9, TGM5, TGM7, THAP10, THBS1, THSD4, TICRR, TIPIN, TJP1, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMCO5A, TMED3, TMEM202, TMEM266, TMEM62, TMEM87A, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TPM1, TRIM69, TRIP4, TRPM1, TRPM7, TSPAN3, TTBK2, TTC23, TUBGCP4, TUBGCP5, TYRO3, UACA, UBAP1L, UBE2Q2, UBE3A, UBL7, UBR1, ULK3, UNC13C, UNC45A, USP3, USP50, USP8, VPS13C, VPS18, VPS33B, VPS39, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZFYVE19, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZNF774, ZSCAN2, ZSCAN29, ZWILCH | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr15:20016811-102493540
| HYKK, HYPK, ICE2, IDH2, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INO80, INSYN1, INTS14, IPW, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, ITPKA, IVD, JMJD7, KATNBL1, KBTBD13, KIF23, KIF7, KLF13, KLHL25, KNL1, KNSTRN, LACTB, LARP6, LCMT2, LCTL, LDHAL6B, LEO1, LINC00928, LINC02694, LINC02915, LINGO1, LINS1, LIPC, LMAN1L, LOC100128979, LOXL1, LPCAT4, LRRC28, LRRC49, LRRC57, LRRK1, LTK, LYSMD2, LYSMD4, MAGEL2, MAN2A2, MAN2C1, MAP1A, MAP2K1, MAP2K5, MAPK6, MAPKBP1, MCTP2, MEF2A, MEGF11, MEIS2, MESD, MESP1, MESP2, MEX3B, MFAP1, MFGE8, MGA, MINAR1, MINDY2, MIR184, MIR211, MIR9-3, MKRN3, MNS1, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MTMR10, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, MYZAP, NDN, NDUFAF1, NEDD4, NEIL1, NEO1, NGRN, NIPA1, NIPA2, NMB, NOP10, NOX5, NPAP1, NPTN, NR2E3, NR2F2, NRG4, NSMCE3, NTRK3, NUSAP1, NUTM1, OAZ2, OCA2, ODF3L1, OIP5, ONECUT1, OR4F15, OR4F4, OR4F6, OR4M2, OR4N4, OTUD7A, PAK6, PAK6-AS1, PAQR5, PARP16, PARP6, PATL2, PCLAF, PCSK6, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGBD4, PGPEP1L, PHGR1, PIAS1, PIERCE2, PIF1, PIGB, PKM, PLA2G4B, PLA2G4D, PLA2G4E, PLA2G4F, PLCB2, PLEKHO2, PLIN1, PML, POLG, POLR2M, POTEB, POTEB2, PPCDC, PPIB, PPIP5K1, PPP1R14D, PRC1, PRTG, PSMA4, PSTPIP1, PTPN9, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PYGO1, RAB11A, RAB27A, RAB8B, RAD51, RAMAC, RASGRF1, RASGRP1, RASL12, RBPMS2, RCCD1, RCN2, REC114, RFX7, RGMA, RHCG, RHOV, RLBP1, RMDN3, RNF111, RNU5A-1, RNU6-1, RORA, RPAP1, RPL4, RPLP1, RPP25, RPS17, RPS27L, RPUSD2, RSL24D1, RTF1, RYR3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SCG3, SCG5, SEC11A, SECISBP2L, SELENOS, SEMA4B, SEMA6D, SEMA7A, SENP8, SERF2, SERINC4, SH2D7, SH3GL3, SHC4, SHF, SIN3A, SKIC8, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLCO3A1, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNORD115-1, SNORD116-1, SNRPA1, SNRPN, SNUPN, SNURF, SNX1, SNX22, SNX33, SORD, SPATA8, SPESP1, SPG11, SPG21, SPINT1, SPPL2A, SPRED1, SPTBN5, SQOR, SRP14, ST20, ST20-MTHFS, ST8SIA2, STARD5, STARD9, STOML1, STRA6, STRC, SV2B, SYNM, TARS3, TBC1D21, TBC1D2B, TCF12, TERB2, TEX9, TGM5, TGM7, THAP10, THBS1, THSD4, TICRR, TIPIN, TJP1, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMCO5A, TMED3, TMEM202, TMEM266, TMEM62, TMEM87A, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TPM1, TRIM69, TRIP4, TRPM1, TRPM7, TSPAN3, TTBK2, TTC23, TUBGCP4, TUBGCP5, TYRO3, UACA, UBAP1L, UBE2Q2, UBE3A, UBL7, UBR1, ULK3, UNC13C, UNC45A, USP3, USP50, USP8, VPS13C, VPS18, VPS33B, VPS39, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZFYVE19, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZNF774, ZSCAN2, ZSCAN29, ZWILCH, AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ACTC1, ADAL, ADAM10, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, AEN, AFG2B, AGBL1, AKAP13, ALDH1A2, ALDH1A3, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANP32A, ANPEP, ANXA2, AP3B2, AP3S2, AP4E1, APBA2, APH1B, AQP9, AQR, ARPIN, ARHGAP11A, ARHGAP11B, ARID3B, ARIH1, ARNT2, ARPIN-AP3S2, ARPP19, ARRDC4, ASB7, ATOSA, ATP10A, ATP8B4, AVEN, B2M, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BMF, BNC1, BNIP2, BTBD1, BUB1B, C15orf32, C15orf39, C15orf40, C15orf48, C15orf61, C15orf62, C2CD4A, C2CD4B, CA12, CALML4, CAPN3, CATSPER2, CCDC32, CCDC33, CCDC9B, CCNB2, CCNDBP1, CCPG1, CD276, CDAN1, CDIN1, CELF6, CEMIP, CEP152, CERS3, CFAP161, CGNL1, CHAC1, CHD2, CHP1, CHRFAM7A, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CHST14, CHSY1, CIAO2A, CIB1, CIB2, CILP, CKMT1A, CKMT1B, CLK3, CLN6, CLPX, COMMD4, COPS2, CORO2B, COX5A, CPEB1, CPLX3, CRABP1, CRTC3, CSK, CSNK1G1, CSPG4, CT62, CTDSPL2, CTSH, CTXN2, CYFIP1, CYP11A1, CYP19A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DISP2, DLL4, DMXL2, DNAAF4, DNAJA4, DNAJC17, DPH6, DPP8, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EDC3, EFL1, EHD4, EID1, EIF2AK4, EIF3J, ELL3, EMC4, EMC7, ENTREP2, EPB42, ETFA, EXD1, FAH, FAM174B, FAM219B, FAM227B, FAM81A, FAM98B, FAN1, FANCI, FBN1, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FES, FGF7, FOXB1, FRMD5, FSD2, FSIP1, FURIN, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, GCNT3, GDPGP1, GJD2, GLCE, GLDN, GNB5, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L1, GOLGA6L2, GOLGA6L6, GOLGA8A, GOLGA8B, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, GOLM2, GPR176, GRAMD2A, GREM1, GTF2A2, HACD3, HAPLN3, HAUS2, HCN4, HDC, HDDC3, HERC1, HERC2, HEXA, HMG20A, HOMER2 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr15:34638237-42057083
| CCDC32, RTF1, ZFYVE19, ZNF770, SPINT1, CDIN1, DPH6, EIF2AK4, EXD1, DNAJC17, CHAC1, CHP1, CHST14, DISP2, DLL4, FAM98B, FSIP1, CCDC9B, GCHFR, ACTC1, ANKRD63, AQR, BAHD1, BMF, BUB1B, C15orf62, GJD2, GOLGA8A, GOLGA8B, GPR176, INO80, ITPKA, IVD, KNL1, KNSTRN, LINC02694, LINC02915, LPCAT4, LTK, MEIS2, MGA, NDUFAF1, NUSAP1, NUTM1, OIP5, PAK6, PAK6-AS1, PHGR1, PLCB2, PPP1R14D, RAD51, RASGRP1, RHOV, RMDN3, RPAP1, RPUSD2, SPRED1, SRP14, THBS1, TMCO5A, TYRO3, VPS18 | | Spindle cell sarcoma | Pathogenic (Aug 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:31115047-102354857
| AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ACTC1, ADAL, ADAM10, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, AEN, AFG2B, AGBL1, AKAP13, ALDH1A2, ALDH1A3, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANP32A, ANPEP, ANXA2, AP3B2, AP3S2, AP4E1, APH1B, AQP9, AQR, ARHGAP11A, ARID3B, ARIH1, ARNT2, ARPIN, ARPIN-AP3S2, ARPP19, ARRDC4, ASB7, ATOSA, ATP8B4, AVEN, B2M, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BMF, BNC1, BNIP2, BTBD1, BUB1B, C15orf32, C15orf39, C15orf40, C15orf48, C15orf61, C15orf62, C2CD4A, C2CD4B, CA12, CALML4, CAPN3, CATSPER2, CCDC32, CCDC33, CCDC9B, CCNB2, CCNDBP1, CCPG1, CD276, CDAN1, CDIN1, CELF6, CEMIP, CEP152, CERS3, CFAP161, CGNL1, CHAC1, CHD2, CHP1, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CHST14, CHSY1, CIAO2A, CIB1, CIB2, CILP, CKMT1A, CKMT1B, CLK3, CLN6, CLPX, COMMD4, COPS2, CORO2B, COX5A, CPEB1, CPLX3, CRABP1, CRTC3, CSK, CSNK1G1, CSPG4, CT62, CTDSPL2, CTSH, CTXN2, CYP11A1, CYP19A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DISP2, DLL4, DMXL2, DNAAF4, DNAJA4, DNAJC17, DPH6, DPP8, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EDC3, EFL1, EHD4, EID1, EIF2AK4, EIF3J, ELL3, EMC4, EMC7, EPB42, ETFA, EXD1, FAH, FAM174B, FAM219B, FAM227B, FAM81A, FAM98B, FAN1, FANCI, FBN1, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FES, FGF7, FOXB1, FRMD5, FSD2, FSIP1, FURIN, GABPB1, GALK2, GANC, GATM, GCHFR, GCNT3, GDPGP1, GJD2, GLCE, GLDN, GNB5, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA8A, GOLGA8B, GOLGA8N, GOLGA8O, GOLM2, GPR176, GRAMD2A, GREM1, GTF2A2, HACD3, HAPLN3, HAUS2, HCN4, HMG20A, HDC, HDDC3, HERC1, HEXA, HOMER2, HYKK, HYPK, ICE2, IDH2, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INO80, INSYN1, INTS14, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, ITPKA, IVD, JMJD7, KATNBL1, KBTBD13, KIF23, KIF7, KLF13, KLHL25, KNL1, KNSTRN, LACTB, LARP6, LCMT2, LCTL, LDHAL6B, LEO1, LINC00928, LINC02694, LINC02915, LINGO1, LINS1, LIPC, LMAN1L, LOC100128979, LOXL1, LPCAT4, LRRC28, LRRC49, LRRC57, LRRK1, LTK, LYSMD2, LYSMD4, MAN2A2, MAN2C1, MAP1A, MAP2K1, MAP2K5, MAPK6, MAPKBP1, MCTP2, MEF2A, MEGF11, MEIS2, MESD, MESP1, MESP2, MEX3B, MFAP1, MFGE8, MGA, MINAR1, MINDY2, MIR184, MIR211, MIR9-3, MNS1, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MTMR10, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, MYZAP, NDUFAF1, NEDD4, NEIL1, NEO1, NGRN, NMB, NOP10, NOX5, NPTN, NR2E3, NR2F2, NRG4, NTRK3, NUSAP1, NUTM1, OAZ2, ODF3L1, OIP5, ONECUT1, OR4F6, OTUD7A, PAK6, PAK6-AS1, PAQR5, PARP16, PARP6, PATL2, PCLAF, PCSK6, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGBD4, PGPEP1L, PHGR1, PIAS1, PIERCE2, PIF1, PIGB, PKM, PLA2G4B, PLA2G4D, PLA2G4E, PLA2G4F, PLCB2, PLEKHO2, PLIN1, PML, POLG, POLR2M, PPCDC, PPIB, PPIP5K1, PPP1R14D, PRC1, PRTG, PSMA4, PSTPIP1, PTPN9, PYGO1, RAB11A, RAB27A, RAB8B, RAD51, RAMAC, RASGRF1, RASGRP1, RASL12, RBPMS2, RCCD1, RCN2, REC114, RFX7, RGMA, RHCG, RHOV, RLBP1, RMDN3, RNF111, RNU5A-1, RNU6-1, RORA, RPAP1, RPL4, RPLP1, RPP25, RPS17, RPS27L, RPUSD2, RSL24D1, RTF1, RYR3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SCG3, SCG5, SEC11A, SECISBP2L, SELENOS, SEMA4B, SEMA6D, SEMA7A, SENP8, SERF2, SERINC4, SH2D7, SH3GL3, SHC4, SHF, SIN3A, SKIC8, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLCO3A1, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNRPA1, SNUPN, SNX1, SNX22, SNX33, SORD, SPATA8, SPESP1, SPG11, SPG21, SPINT1, SPPL2A, SPRED1, SPTBN5, SQOR, SRP14, ST20, ST20-MTHFS, ST8SIA2, STARD5, STARD9, STOML1, STRA6, STRC, SV2B, SYNM, TARS3, TBC1D21, TBC1D2B, TCF12, TERB2, TEX9, TGM5, TGM7, THAP10, THBS1, THSD4, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMCO5A, TMED3, TMEM202, TMEM266, TMEM62, TMEM87A, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TPM1, TRIM69, TRIP4, TRPM1, TRPM7, TSPAN3, TTBK2, TTC23, TUBGCP4, TYRO3, UACA, UBAP1L, UBE2Q2, UBL7, UBR1, ULK3, UNC13C, UNC45A, USP3, USP50, USP8, VPS13C, VPS18, VPS33B, VPS39, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZFYVE19, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZNF774, ZSCAN2, ZSCAN29, ZWILCH | | not provided | Pathogenic (Apr 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:22770422-102429112
| AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ACTC1, ADAL, ADAM10, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, AEN, AFG2B, AGBL1, AKAP13, ALDH1A2, ALDH1A3, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANP32A, ANPEP, ANXA2, AP3B2, AP3S2, AP4E1, APBA2, APH1B, AQP9, AQR, ARHGAP11A, ARHGAP11B, ARID3B, ARIH1, ARNT2, ARPIN, ARPIN-AP3S2, ARPP19, ARRDC4, ASB7, ATOSA, ATP10A, ATP8B4, AVEN, B2M, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BMF, BNC1, BNIP2, BTBD1, BUB1B, C15orf32, C15orf39, C15orf40, C15orf48, C15orf61, C15orf62, C2CD4A, C2CD4B, CA12, CALML4, CAPN3, CATSPER2, CCDC32, CCDC33, CCDC9B, CCNB2, CCNDBP1, CCPG1, CD276, CDAN1, CDIN1, CELF6, CEMIP, CEP152, CERS3, CFAP161, CGNL1, CHAC1, CHD2, CHP1, CHRFAM7A, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CHST14, CHSY1, CIAO2A, CIB1, CIB2, CILP, CKMT1A, CKMT1B, CLK3, CLN6, CLPX, COMMD4, COPS2, CORO2B, COX5A, CPEB1, CPLX3, CRABP1, CRTC3, CSK, CSNK1G1, CSPG4, CT62, CTDSPL2, CTSH, CTXN2, CYFIP1, CYP11A1, CYP19A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DISP2, DLL4, DMXL2, DNAAF4, DNAJA4, DNAJC17, DPH6, DPP8, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EDC3, EFL1, EHD4, EID1, EIF2AK4, EIF3J, ELL3, EMC4, EMC7, ENTREP2, EPB42, ETFA, EXD1, FAH, FAM174B, FAM219B, FAM227B, FAM81A, FAM98B, FAN1, FANCI, FBN1, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FES, FGF7, FOXB1, FRMD5, FSD2, FSIP1, FURIN, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, GCNT3, GDPGP1, GJD2, GLCE, GLDN, GNB5, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L2, GOLGA8A, GOLGA8B, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, GOLM2, GPR176, GRAMD2A, GREM1, GTF2A2, HACD3, HAPLN3, HAUS2, HCN4, HDC, HDDC3, HERC1, HERC2, HEXA, HMG20A, HOMER2, HYKK, HYPK, ICE2, IDH2, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INO80, INSYN1, INTS14, IPW, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, ITPKA, IVD, JMJD7, KATNBL1, KBTBD13, KIF23, KIF7, KLF13, KLHL25, KNL1, KNSTRN, LACTB, LARP6, LCMT2, LCTL, LDHAL6B, LEO1, LINC00928, LINC02694, LINC02915, LINGO1, LINS1, LIPC, LMAN1L, LOC100128979, LOXL1, LPCAT4, LRRC28, LRRC49, LRRC57, LRRK1, LTK, LYSMD2, LYSMD4, MAGEL2, MAN2A2, MAN2C1, MAP1A, MAP2K1, MAP2K5, MAPK6, MAPKBP1, MCTP2, MEF2A, MEGF11, MEIS2, MESD, MESP1, MESP2, MEX3B, MFAP1, MFGE8, MGA, MINAR1, MINDY2, MIR184, MIR211, MIR9-3, MKRN3, MNS1, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MTMR10, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, MYZAP, NDN, NDUFAF1, NEDD4, NEIL1, NEO1, NGRN, NIPA1, NIPA2, NMB, NOP10, NOX5, NPAP1, NPTN, NR2E3, NR2F2, NRG4, NSMCE3, NTRK3, NUSAP1, NUTM1, OAZ2, OCA2, ODF3L1, OIP5, ONECUT1, OR4F15, OR4F6, OTUD7A, PAK6, PAK6-AS1, PAQR5, PARP16, PARP6, PATL2, PCLAF, PCSK6, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGBD4, PGPEP1L, PHGR1, PIAS1, PIERCE2, PIF1, PIGB, PKM, PLA2G4B, PLA2G4D, PLA2G4E, PLA2G4F, PLCB2, PLEKHO2, PLIN1, PML, POLG, POLR2M, PPCDC, PPIB, PPIP5K1, PPP1R14D, PRC1, PRTG, PSMA4, PSTPIP1, PTPN9, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PYGO1, RAB11A, RAB27A, RAB8B, RAD51, RAMAC, RASGRF1, RASGRP1, RASL12, RBPMS2, RCCD1, RCN2, REC114, RFX7, RGMA, RHCG, RHOV, RLBP1, RMDN3, RNF111, RNU5A-1, RNU6-1, RORA, RPAP1, RPL4, RPLP1, RPP25, RPS17, RPS27L, RPUSD2, RSL24D1, RTF1, RYR3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SCG3, SCG5, SEC11A, SECISBP2L, SELENOS, SEMA4B, SEMA6D, SEMA7A, SENP8, SERF2, SERINC4, SH2D7, SH3GL3, SHC4, SHF, SIN3A, SKIC8, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLCO3A1, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNORD115-1, SNORD116-1, SNRPA1, SNRPN, SNUPN, SNURF, SNX1, SNX22, SNX33, SORD, SPATA8, SPESP1, SPG11, SPG21, SPINT1, SPPL2A, SPRED1, SPTBN5, SQOR, SRP14, ST20, ST20-MTHFS, ST8SIA2, STARD5, STARD9, STOML1, STRA6, STRC, SV2B, SYNM, TARS3, TBC1D21, TBC1D2B, TCF12, TERB2, TEX9, TGM5, TGM7, THAP10, THBS1, THSD4, TICRR, TIPIN, TJP1, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMCO5A, TMED3, TMEM202, TMEM266, TMEM62, TMEM87A, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TPM1, TRIM69, TRIP4, TRPM1, TRPM7, TSPAN3, TTBK2, TTC23, TUBGCP4, TUBGCP5, TYRO3, UACA, UBAP1L, UBE2Q2, UBE3A, UBL7, UBR1, ULK3, UNC13C, UNC45A, USP3, USP50, USP8, VPS13C, VPS18, VPS33B, VPS39, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZFYVE19, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZNF774, ZSCAN2, ZSCAN29, ZWILCH | | See cases | Pathogenic (Dec 2, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr15:22770422-102429112
| AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ACTC1, ADAL, ADAM10, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, AEN, AFG2B, AGBL1, AKAP13, ALDH1A2, ALDH1A3, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANP32A, ANPEP, ANXA2, AP3B2, AP3S2, AP4E1, APBA2, APH1B, AQP9, AQR, ARHGAP11A, ARHGAP11B, ARID3B, ARIH1, ARNT2, ARPIN, ARPIN-AP3S2, ARPP19, ARRDC4, ASB7, ATOSA, ATP10A, ATP8B4, AVEN, B2M, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BMF, BNC1, BNIP2, BTBD1, BUB1B, C15orf32, C15orf39, C15orf40, C15orf48, C15orf61, C15orf62, C2CD4A, C2CD4B, CA12, CALML4, CAPN3, CATSPER2, CCDC32, CCDC33, CCDC9B, CCNB2, CCNDBP1, CCPG1, CD276, CDAN1, CDIN1, CELF6, CEMIP, CEP152, CERS3, CFAP161, CGNL1, CHAC1, CHD2, CHP1, CHRFAM7A, CHRM5, CHRNA3, CHRNA5, CIB1, CHRNA7, CHRNB4, CHST14, CHSY1, CIAO2A, CIB2, CILP, CKMT1A, CKMT1B, CLK3, CLN6, CLPX, COMMD4, COPS2, CORO2B, COX5A, CPEB1, CPLX3, CRABP1, CRTC3, CSK, CSNK1G1, CSPG4, CT62, CTDSPL2, CTSH, CTXN2, CYFIP1, CYP11A1, CYP19A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DISP2, DLL4, DMXL2, DNAAF4, DNAJA4, DNAJC17, DPH6, DPP8, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EDC3, EFL1, EHD4, EID1, EIF2AK4, EIF3J, ELL3, EMC4, EMC7, ENTREP2, EPB42, ETFA, EXD1, FAH, FAM174B, FAM219B, FAM227B, FAM81A, FAM98B, FAN1, FANCI, FBN1, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FES, FGF7, FOXB1, FRMD5, FSD2, FSIP1, FURIN, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, GCNT3, GDPGP1, GJD2, GLCE, GLDN, GNB5, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L2, GOLGA8A, GOLGA8B, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, GOLM2, GPR176, GRAMD2A, GREM1, GTF2A2, HACD3, HAPLN3, HAUS2, HCN4, HDC, HDDC3, HERC1, HERC2, HEXA, HMG20A, HOMER2, HYKK, HYPK, ICE2, IDH2, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INO80, INSYN1, INTS14, IPW, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, ITPKA, IVD, JMJD7, KATNBL1, KBTBD13, KIF23, KIF7, KLF13, KLHL25, KNL1, KNSTRN, LACTB, LARP6, LCMT2, LCTL, LDHAL6B, LEO1, LINC00928, LINC02694, LINC02915, LINGO1, LINS1, LIPC, LMAN1L, LOC100128979, LOXL1, LPCAT4, LRRC28, LRRC49, LRRC57, LRRK1, LTK, LYSMD2, LYSMD4, MAGEL2, MAN2A2, MAN2C1, MAP1A, MAP2K1, MAP2K5, MAPK6, MAPKBP1, MCTP2, MEF2A, MEGF11, MEIS2, MESD, MESP1, MESP2, MEX3B, MFAP1, MFGE8, MGA, MINAR1, MINDY2, MIR184, MIR211, MIR9-3, MTFMT, MKRN3, MNS1, MORF4L1, MPI, MRPL46, MRPS11, MTHFS, MTMR10, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, MYZAP, NDN, NDUFAF1, NEDD4, NEIL1, NEO1, NGRN, NIPA1, NIPA2, NMB, NOP10, NOX5, NPAP1, NPTN, NR2E3, NR2F2, NRG4, NSMCE3, NTRK3, NUSAP1, NUTM1, OAZ2, OCA2, ODF3L1, OIP5, ONECUT1, OR4F15, OR4F6, OTUD7A, PAK6, PAK6-AS1, PAQR5, PARP16, PARP6, PATL2, PCLAF, PCSK6, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGBD4, PGPEP1L, PHGR1, PIAS1, PIERCE2, PIF1, PIGB, PKM, PLA2G4B, PLA2G4D, PLA2G4E, PLA2G4F, PLCB2, PLEKHO2, PLIN1, PML, POLG, POLR2M, PPCDC, PPIB, PPIP5K1, PPP1R14D, PRC1, PRTG, PSMA4, PSTPIP1, PTPN9, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PYGO1, RAB11A, RAB27A, RAB8B, RAD51, RAMAC, RASGRF1, RASGRP1, RASL12, RBPMS2, RCCD1, RCN2, REC114, RFX7, RGMA, RHCG, RHOV, RLBP1, RMDN3, RNF111, RNU5A-1, RNU6-1, RORA, RPAP1, RPL4, RPLP1, RPP25, RPS17, RPS27L, RPUSD2, RSL24D1, RTF1, RYR3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SCG3, SCG5, SEC11A, SECISBP2L, SELENOS, SEMA4B, SEMA6D, SEMA7A, SENP8, SERF2, SERINC4, SH2D7, SH3GL3, SHC4, SHF, SIN3A, SKIC8, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLCO3A1, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNORD115-1, SNORD116-1, SNRPA1, SNRPN, SNUPN, SNURF, SNX1, SNX22, SNX33, SORD, SPATA8, SPESP1, SPG11, SPG21, SPINT1, SPPL2A, SPRED1, SPTBN5, SQOR, SRP14, ST20, ST20-MTHFS, ST8SIA2, STARD5, STARD9, STOML1, STRA6, STRC, SV2B, SYNM, TARS3, TBC1D21, TBC1D2B, TCF12, TERB2, TEX9, TGM5, TGM7, THAP10, THBS1, THSD4, TICRR, TIPIN, TJP1, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMCO5A, TMED3, TMEM202, TMEM266, TMEM62, TMEM87A, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TPM1, TRIM69, TRIP4, TRPM1, TRPM7, TSPAN3, TTBK2, TTC23, TUBGCP4, TUBGCP5, TYRO3, UACA, UBAP1L, UBE2Q2, UBE3A, UBL7, UBR1, ULK3, UNC13C, UNC45A, USP3, USP50, USP8, VPS13C, VPS18, VPS33B, VPS39, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZFYVE19, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZNF774, ZSCAN2, ZSCAN29, ZWILCH | | See cases | Pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr15:41370581-41688429
| CHP1, EXD1, INO80, NDUFAF1, NUSAP1, OIP5 | | See cases | Likely benign (Jun 22, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr15:20733395-102511616
| GPR176, GRAMD2A, GREM1, GTF2A2, HACD3, HAPLN3, HAUS2, HCN4, HDC, HDDC3, HERC1, HERC2, HEXA, HMG20A, HOMER2, HYKK, HYPK, ICE2, IDH2, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INO80, INSYN1, INTS14, IPW, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, ITPKA, IVD, JMJD7, KATNBL1, KBTBD13, KIF23, KIF7, KLF13, KLHL25, KNL1, KNSTRN, LACTB, LARP6, LCMT2, LCTL, LDHAL6B, LEO1, LINC00928, LINC02694, LINC02915, LINGO1, LINS1, LIPC, LMAN1L, LOC100128979, LOXL1, LPCAT4, LRRC28, LRRC49, LRRC57, LRRK1, LTK, LYSMD2, LYSMD4, MAGEL2, MAN2A2, MAN2C1, MAP1A, MAP2K1, MAP2K5, MAPK6, MAPKBP1, MCTP2, MEF2A, MEGF11, MEIS2, MESD, MESP1, MESP2, MEX3B, MFAP1, MFGE8, MGA, MINAR1, MINDY2, MIR184, MIR211, MIR9-3, MKRN3, MNS1, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MTMR10, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, MYZAP, NDN, NDUFAF1, NEDD4, NEIL1, NEO1, NGRN, NIPA1, NIPA2, NMB, NOP10, NOX5, NPAP1, NPTN, NR2E3, NR2F2, NRG4, NSMCE3, NTRK3, NUSAP1, NUTM1, OAZ2, OCA2, ODF3L1, OIP5, ONECUT1, OR4F15, OR4F4, OR4F6, OR4M2, OR4N4, OTUD7A, PAK6, PAK6-AS1, PAQR5, PARP16, PARP6, PATL2, PCLAF, PCSK6, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGBD4, PGPEP1L, PHGR1, PIAS1, PIERCE2, PIF1, PIGB, PKM, PLA2G4B, PLA2G4D, PLA2G4E, PLA2G4F, PLCB2, PLEKHO2, PLIN1, PML, POLG, POLR2M, POTEB, POTEB2, PPCDC, PPIB, PPIP5K1, PPP1R14D, PRC1, PRTG, PSMA4, PSTPIP1, PTPN9, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PYGO1, RAB11A, RAB27A, RAB8B, RAD51, RAMAC, RASGRF1, RASGRP1, RASL12, RBPMS2, RCCD1, RCN2, REC114, RFX7, RGMA, RHCG, RHOV, RLBP1, RMDN3, RNF111, RNU5A-1, RNU6-1, RORA, RPAP1, RPL4, RPLP1, RPP25, RPS17, RPS27L, RPUSD2, RSL24D1, RTF1, RYR3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SCG3, SCG5, SEC11A, SECISBP2L, SELENOS, SEMA4B, SEMA6D, SEMA7A, SENP8, SERF2, SERINC4, SH2D7, SH3GL3, SHC4, SHF, SIN3A, SKIC8, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLCO3A1, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNORD115-1, SNORD116-1, SNRPA1, SNRPN, SNUPN, SNURF, SNX1, SNX22, SNX33, SORD, SPATA8, SPESP1, SPG11, SPG21, SPINT1, SPPL2A, SPRED1, SPTBN5, SQOR, SRP14, ST20, ST20-MTHFS, ST8SIA2, STARD5, STARD9, STOML1, STRA6, STRC, SV2B, SYNM, TARS3, TBC1D21, TBC1D2B, TCF12, TERB2, TEX9, TGM5, TGM7, THAP10, THBS1, THSD4, TICRR, TIPIN, TJP1, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMCO5A, TMED3, TMEM202, TMEM266, TMEM62, TMEM87A, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TPM1, TRIM69, TRIP4, TRPM1, TRPM7, TSPAN3, TTBK2, TTC23, TUBGCP4, TUBGCP5, TYRO3, UACA, UBAP1L, UBE2Q2, UBE3A, UBL7, UBR1, ULK3, UNC13C, UNC45A, USP3, USP50, USP8, VPS13C, VPS18, VPS33B, VPS39, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZFYVE19, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZNF774, ZSCAN2, ZSCAN29, ZWILCH, AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ACTC1, ADAL, ADAM10, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, AEN, AFG2B, AGBL1, AKAP13, ALDH1A2, ALDH1A3, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANP32A, ANPEP, ANXA2, AP3B2, AP3S2, AP4E1, APBA2, APH1B, AQP9, AQR, ARHGAP11A, ARHGAP11B, ARID3B, ARIH1, ARNT2, ARPIN, ARPIN-AP3S2, ARPP19, ARRDC4, ASB7, ATOSA, ATP10A, ATP8B4, AVEN, B2M, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BMF, BNC1, BNIP2, BTBD1, BUB1B, C15orf32, C15orf39, C15orf40, C15orf48, C15orf61, C15orf62, C2CD4A, C2CD4B, CA12, CALML4, CAPN3, CATSPER2, CCDC32, CCDC33, CCDC9B, CCNB2, CCNDBP1, CCPG1, CD276, CDAN1, CDIN1, CELF6, CEMIP, CEP152, CERS3, CFAP161, CGNL1, CHAC1, CHD2, CHP1, CHRFAM7A, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CHST14, CHSY1, CIAO2A, CIB1, CIB2, CILP, CKMT1A, CKMT1B, CLK3, CLN6, CLPX, COMMD4, COPS2, CORO2B, COX5A, CPEB1, CPLX3, CRABP1, CRTC3, CSK, CSNK1G1, CSPG4, CT62, CTDSPL2, CTSH, CTXN2, CYFIP1, CYP11A1, CYP19A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DISP2, DLL4, DMXL2, DNAAF4, DNAJA4, DNAJC17, DPH6, DPP8, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EDC3, EFL1, EHD4, EID1, EIF2AK4, EIF3J, ELL3, EMC4, EMC7, ENTREP2, EPB42, ETFA, EXD1, FAH, FAM174B, FAM219B, FAM227B, FAM81A, FAM98B, FAN1, FANCI, FBN1, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FES, FGF7, FOXB1, FRMD5, FSD2, FSIP1, FURIN, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, GCNT3, GDPGP1, GJD2, GLCE, GLDN, GNB5, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L1, GOLGA6L2, GOLGA6L6, GOLGA8A, GOLGA8B, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, GOLM2 | | See cases | Pathogenic | no assertion criteria provided |