| - GRCh37:
- Chr15:47753041-52786419
- GRCh38:
- Chr15:47460844-52494222
| AP4E1, ATP8B4, BCL2L10, CEP152, CERNA1, COPS2, CTXN2, CTXN2-AS1, CYP19A1, DMXL2, DTWD1, DUT, DUT-AS1, EID1, FAM227B, FBN1, FBN1-DT, FGF7, GABPB1, GABPB1-AS1, GABPB1-IT1, GALK2, GLDN, GNB5, HDC, LEO1, LINC01491, LOC102724587, LOC108178996, LOC108251795, LOC108281154, LOC110386947, LOC110386948, LOC110386949, LOC110386951, LOC111464992, LOC111822948, LOC112272592, LOC112272593, LOC112272594, LOC113939944, LOC116268465, LOC116268466, LOC120807607, LOC121530580, LOC121530581, LOC121530582, LOC121847947, LOC121847948, LOC121847949, LOC125078075, LOC125078076, LOC125078077, LOC125078078, LOC125078079, LOC125078080, LOC125078081, LOC126862120, LOC126862121, LOC126862122, LOC126862123, LOC126862124, LOC126862125, LOC126862126, LOC126862127, LOC126862128, LOC126862129, LOC126862130, LOC126862131, LOC128092252, LOC129390696, LOC129390697, LOC129390698, LOC129390699, LOC129390700, LOC129390701, LOC129390702, LOC129390703, LOC129390704, LOC130057010, LOC130057011, LOC130057012, LOC130057013, LOC130057014, LOC130057015, LOC130057016, LOC130057017, LOC130057018, LOC130057019, LOC130057020, LOC130057021, LOC130057022, LOC130057023, LOC130057024, LOC130057025, LOC130057026, LOC130057027, LOC130057028, LOC130057029, LOC130057030, LOC130057031, LOC130057032, LOC130057033, LOC130057034, LOC130057035, LOC130057036, LOC130057037, LOC130057038, LOC130057039, LOC130057040, LOC130057041, LOC130057042, LOC130057043, LOC130057044, LOC130057045, LOC130057046, LOC130057047, LOC130057048, LOC130057049, LOC130057050, LOC130057051, LOC130057052, LOC130057053, LOC130057054, LOC130057055, LOC130057056, LOC130057057, LOC130057058, LOC130057059, LOC130057060, LOC130057061, LOC130057062, LOC130057063, LOC130057064, LOC130057065, LOC130057066, LOC130057067, LOC130057068, LOC130057069, LOC130057070, LOC130057071, LOC130057072, LOC130057073, LOC130057074, LOC130057075, LOC130057076, LOC130057077, LOC130057078, LOC130057079, LOC130057080, LOC130057081, LOC130057082, LOC130057083, LOC130057084, LOC130057085, LOC130057086, LOC130057087, LOC130057088, LOC130057089, LOC132090303, LOC132090304, LOC132090305, LOC132090306, LOC132090307, LYSMD2, MAPK6, MAPK6-DT, MIR1266, MIR4712, MIR4713, MIR4713HG, MIR4716, MIR7973-1, MIR7973-2, MYEF2, MYO5A, MYO5C, PIRC66, SCG3, SECISBP2L, SEMA6D, SHC4, SLC12A1, SLC24A5, SLC27A2, SPPL2A, TMOD2, TMOD3, TNFAIP8L3, TRPM7, USP50, USP8 | | See cases | Pathogenic (Feb 18, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr15:50534500
- GRCh38:
- Chr15:50242303
| HDC | C616Y, C649Y | Inborn genetic diseases | Uncertain significance (Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50534671
- GRCh38:
- Chr15:50242474
| HDC | V559A, V592A | Inborn genetic diseases | Uncertain significance (Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50534675
- GRCh38:
- Chr15:50242478
| HDC | P591S, P558S | Inborn genetic diseases | Uncertain significance (Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50534703
- GRCh38:
- Chr15:50242506
| HDC | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50534771
- GRCh38:
- Chr15:50242574
| HDC | D526N, D559N | Inborn genetic diseases | Uncertain significance (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50534789
- GRCh38:
- Chr15:50242592
| HDC | F553L, F520L | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50534863
- GRCh38:
- Chr15:50242666
| HDC | R495H, R528H | Inborn genetic diseases | Uncertain significance (Mar 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50534878
- GRCh38:
- Chr15:50242681
| HDC | I490N, I523N | Tourette syndrome | Uncertain significance (Sep 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50534890
- GRCh38:
- Chr15:50242693
| HDC | A519G, A486G | Inborn genetic diseases | Uncertain significance (Mar 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50534891
- GRCh38:
- Chr15:50242694
| HDC | A486S, A519S | Inborn genetic diseases | Uncertain significance (Jun 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50534935
- GRCh38:
- Chr15:50242738
| HDC | T471K, T504K | Tourette syndrome | Uncertain significance (Jan 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50534966
- GRCh38:
- Chr15:50242769
| HDC | I461V, I494V | not provided | Benign/Likely benign (Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:50534990
- GRCh38:
- Chr15:50242793
| HDC | R453W, R486W | Inborn genetic diseases | Uncertain significance (Apr 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50535008
- GRCh38:
- Chr15:50242811
| HDC | T480A, T447A | Inborn genetic diseases | Uncertain significance (Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50535348
- GRCh38:
- Chr15:50243151
| HDC | R412C, R379C | Inborn genetic diseases | Uncertain significance (Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50540504
- GRCh38:
- Chr15:50248307
| HDC | V360L | Inborn genetic diseases | Uncertain significance (Jan 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50544717
- GRCh38:
- Chr15:50252520
| HDC | W317* | Tourette syndrome | Pathogenic (Jan 8, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr15:50544909
- GRCh38:
- Chr15:50252712
| HDC | P284T | Inborn genetic diseases | Uncertain significance (Mar 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50544946
- GRCh38:
- Chr15:50252749
| HDC | | not provided | Likely benign (Aug 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50544965
- GRCh38:
- Chr15:50252768
| HDC | R265L | Inborn genetic diseases | Uncertain significance (Mar 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50545861
- GRCh38:
- Chr15:50253664
| HDC | | not provided | Likely benign (Jun 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50546346
- GRCh38:
- Chr15:50254149
| HDC | R234Q | Inborn genetic diseases | Uncertain significance (Apr 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50546350
- GRCh38:
- Chr15:50254153
| HDC | Q233E | Inborn genetic diseases | Likely benign (Aug 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50546743
- GRCh38:
- Chr15:50254546
| HDC | A187V | Inborn genetic diseases | Uncertain significance (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50546780
- GRCh38:
- Chr15:50254583
| HDC | D175N | Inborn genetic diseases | Uncertain significance (Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50555463
- GRCh38:
- Chr15:50263266
| HDC | F58S | Inborn genetic diseases | Uncertain significance (Jan 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50555544
- GRCh38:
- Chr15:50263347
| HDC | T31M | not provided | Benign (Oct 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50555560
- GRCh38:
- Chr15:50263363
| HDC | R26W | Inborn genetic diseases | Uncertain significance (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50555561
- GRCh38:
- Chr15:50263364
| HDC | | not provided | Likely benign (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50557803
- GRCh38:
- Chr15:50265606
| HDC | E6D | Inborn genetic diseases | Uncertain significance (Nov 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50557811
- GRCh38:
- Chr15:50265614
| HDC | P4T | Inborn genetic diseases | Uncertain significance (Aug 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50557816
- GRCh38:
- Chr15:50265619
| HDC | M2T | Inborn genetic diseases | Uncertain significance (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:49775348-51221365
| DTWD1, AP4E1, ATP8B4, FAM227B, FGF7, GABPB1, HDC, SLC27A2, SPPL2A, TRPM7, USP50, USP8 | | not provided | Uncertain significance (Jul 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:48589845-63543438
| ADAM10, ALDH1A2, ANXA2, AP4E1, AQP9, ARPP19, ATOSA, ATP8B4, BCL2L10, BNIP2, C2CD4A, C2CD4B, CCNB2, CCPG1, CEP152, CGNL1, COPS2, CYP19A1, DMXL2, DNAAF4, DTWD1, DUT, EID1, FAM227B, FAM81A, FBN1, FGF7, FOXB1, GABPB1, GALK2, GCNT3, GLDN, GNB5, GTF2A2, HDC, ICE2, LACTB, LDHAL6B, LEO1, LIPC, LOC100128979, LYSMD2, MAPK6, MINDY2, MNS1, MYO1E, MYO5A, MYO5C, MYZAP, NEDD4, ONECUT1, PIERCE2, PIGB, POLR2M, PRTG, PYGO1, RAB27A, RAB8B, RFX7, RNF111, RORA, RPS27L, RSL24D1, SCG3, SECISBP2L, SHC4, SLC12A1, SLC27A2, SLTM, SPPL2A, TCF12, TEX9, TLN2, TMOD2, TMOD3, TNFAIP8L3, TPM1, TRPM7, UNC13C, USP50, USP8, VPS13C, WDR72, ZNF280D | | not provided | Pathogenic (Jun 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:50550911-50902848
| GABPB1, HDC, TRPM7, USP50, USP8 | | Neurodevelopmental delay | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr15:48940736-51309941
| AP4E1, ATP8B4, CEP152, COPS2, DTWD1, EID1, FAM227B, FGF7, GABPB1, GALK2, HDC, SECISBP2L, SHC4, SLC27A2, SPPL2A, TRPM7, USP50, USP8 | | not specified | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:47635238-56509908
| CEP152, COPS2, CTXN2, CYP19A1, ARPP19, ATOSA, ATP8B4, BCL2L10, CCPG1, AP4E1, DMXL2, DNAAF4, DTWD1, DUT, EID1, FAM227B, FBN1, FGF7, GABPB1, GALK2, GLDN, GNB5, HDC, LEO1, LYSMD2, MAPK6, MYEF2, MYO5A, MYO5C, NEDD4, ONECUT1, PIERCE2, PIGB, PRTG, PYGO1, RAB27A, RFX7, RSL24D1, SCG3, SECISBP2L, SEMA6D, SHC4, SLC12A1, SLC24A5, SLC27A2, SPPL2A, TMOD2, TMOD3, TNFAIP8L3, TRPM7, UNC13C, USP50, USP8, WDR72 | | not specified | Pathogenic (Mar 1, 2022) | 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:
- Chr15:48744917-53851050
| AP4E1, ARPP19, ATOSA, ATP8B4, BCL2L10, CEP152, COPS2, CYP19A1, DMXL2, DTWD1, EID1, FAM227B, FBN1, FGF7, GABPB1, GALK2, GLDN, GNB5, HDC, LEO1, LYSMD2, MAPK6, MYO5A, MYO5C, ONECUT1, SCG3, SECISBP2L, SHC4, SLC27A2, SPPL2A, TMOD2, TMOD3, TNFAIP8L3, TRPM7, USP50, USP8, WDR72 | | not provided | Pathogenic (Oct 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:47192561-50819726
| ATP8B4, CEP152, COPS2, CTXN2, DTWD1, DUT, EID1, FAM227B, FBN1, FGF7, GABPB1, GALK2, HDC, MYEF2, SECISBP2L, SEMA6D, SHC4, SLC12A1, SLC24A5, SLC27A2, USP50, USP8 | | not provided | Pathogenic (Jun 3, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr15:49031132-56740397
| AP4E1, ARPP19, ATOSA, ATP8B4, BCL2L10, CCPG1, CEP152, COPS2, CYP19A1, DMXL2, DNAAF4, DTWD1, EID1, FAM227B, FGF7, GABPB1, GALK2, GLDN, GNB5, HDC, LEO1, LYSMD2, MAPK6, MNS1, MYO5A, MYO5C, NEDD4, ONECUT1, PIERCE2, PIGB, PRTG, PYGO1, RAB27A, RFX7, RSL24D1, SCG3, SECISBP2L, SHC4, SLC27A2, SPPL2A, TEX9, TMOD2, TMOD3, TNFAIP8L3, TRPM7, UNC13C, USP50, USP8, WDR72 | | not provided | Pathogenic (Jun 30, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr15:50083229-53439931
| AP4E1, ARPP19, ATOSA, ATP8B4, BCL2L10, CYP19A1, DMXL2, GABPB1, GLDN, GNB5, HDC, LEO1, LYSMD2, MAPK6, MYO5A, MYO5C, ONECUT1, SCG3, SLC27A2, SPPL2A, TMOD2, TMOD3, TNFAIP8L3, TRPM7, USP50, USP8 | | not provided | Uncertain significance (Aug 8, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr15:48000433-60747551
| ADAM10, ALDH1A2, ANXA2, AP4E1, AQP9, ARPP19, ATOSA, ATP8B4, BCL2L10, BNIP2, CCNB2, CCPG1, CEP152, CGNL1, COPS2, CTXN2, CYP19A1, DMXL2, DNAAF4, DTWD1, DUT, EID1, FAM227B, FAM81A, FBN1, FGF7, FOXB1, GABPB1, GALK2, GCNT3, GLDN, GNB5, GTF2A2, HDC, ICE2, LDHAL6B, LEO1, LIPC, LYSMD2, MAPK6, MINDY2, MNS1, MYEF2, MYO1E, MYO5A, MYO5C, MYZAP, NEDD4, ONECUT1, PIERCE2, PIGB, POLR2M, PRTG, PYGO1, RAB27A, RFX7, RNF111, RSL24D1, SCG3, SECISBP2L, SEMA6D, SHC4, SLC12A1, SLC24A5, SLC27A2, SLTM, SPPL2A, TCF12, TEX9, TMOD2, TMOD3, TNFAIP8L3, TRPM7, UNC13C, USP50, USP8, WDR72, ZNF280D | | not provided | Pathogenic (Jan 12, 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:
- Chr15:43759773-53252240
| AP4E1, ARPP19, ATOSA, ATP8B4, B2M, BCL2L10, BLOC1S6, C15orf48, CATSPER2, CEP152, CKMT1A, CKMT1B, COPS2, CTDSPL2, CTXN2, CYP19A1, DMXL2, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EID1, EIF3J, ELL3, FAM227B, FBN1, FGF7, FRMD5, GABPB1, GALK2, GATM, GLDN, GNB5, GOLM2, HDC, HYPK, LEO1, LYSMD2, MAP1A, MAPK6, MFAP1, MYEF2, MYO5A, MYO5C, ONECUT1, PATL2, PDIA3, PPIP5K1, SCG3, SECISBP2L, SEMA6D, SERF2, SERINC4, SHC4, SHF, SLC12A1, SLC24A5, SLC27A2, SLC28A2, SLC30A4, SORD, SPATA5L1, SPG11, SPPL2A, SQOR, STRC, TERB2, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TRIM69, TRPM7, USP50, USP8, WDR76 | | not provided | Pathogenic (Feb 26, 2018) | no assertion criteria provided |
| - 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:
- Chr15:41689327-52446981
| ADAL, AP4E1, ATP8B4, B2M, BCL2L10, BLOC1S6, C15orf48, CAPN3, CATSPER2, CCNDBP1, CDAN1, CEP152, CKMT1A, CKMT1B, COPS2, CTDSPL2, CTXN2, CYP19A1, DMXL2, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EHD4, EID1, EIF3J, ELL3, EPB42, FAM227B, FBN1, FGF7, FRMD5, GABPB1, GALK2, GANC, GATM, GLDN, GNB5, GOLM2, HAUS2, HDC, HYPK, ITPKA, JMJD7, LCMT2, LEO1, LRRC57, LTK, LYSMD2, MAP1A, MAPK6, MAPKBP1, MFAP1, MGA, MYEF2, NDUFAF1, PATL2, PDIA3, PLA2G4B, PLA2G4D, PLA2G4E, PLA2G4F, PPIP5K1, RPAP1, RTF1, SCG3, SECISBP2L, SEMA6D, SERF2, SERINC4, SHC4, SHF, SLC12A1, SLC24A5, SLC27A2, SLC28A2, SLC30A4, SNAP23, SORD, SPATA5L1, SPG11, SPPL2A, SPTBN5, SQOR, STARD9, STRC, TERB2, TGM5, TGM7, TMEM62, TMEM87A, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TRIM69, TRPM7, TTBK2, TUBGCP4, TYRO3, UBR1, USP50, USP8, VPS39, WDR76, ZNF106, ZSCAN29 | | See cases | Pathogenic | 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 |
| - GRCh37:
- Chr15:41745084-102354798
| AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ADAL, ADAM10, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, AEN, AFG2B, AGBL1, AKAP13, ALDH1A2, ALDH1A3, ALPK3, ANKDD1A, ANKRD34C, ANP32A, ANPEP, ANXA2, AP3B2, AP3S2, AP4E1, APH1B, AQP9, ARID3B, ARIH1, ARNT2, ARPIN, ARPIN-AP3S2, ARPP19, ARRDC4, ASB7, ATOSA, ATP8B4, B2M, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BNC1, BNIP2, BTBD1, C15orf32, C15orf39, C15orf40, C15orf48, C15orf61, C2CD4A, C2CD4B, CA12, CALML4, CAPN3, CATSPER2, CCDC33, CCNB2, CCNDBP1, CCPG1, CD276, CDAN1, CELF6, CEMIP, CEP152, CERS3, CFAP161, CGNL1, CHD2, CHRNA3, CHRNA5, CHRNB4, 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, DMXL2, DNAAF4, DNAJA4, DPP8, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EDC3, EFL1, EHD4, EID1, EIF3J, ELL3, EPB42, ETFA, FAH, FAM174B, FAM219B, FAM227B, FAM81A, FANCI, FBN1, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FES, FGF7, FOXB1, FRMD5, FSD2, FURIN, GABPB1, GALK2, GANC, GATM, GCNT3, GDPGP1, GLCE, GLDN, GNB5, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLM2, GRAMD2A, GTF2A2, HACD3, HAPLN3, HAUS2, HCN4, HDC, HDDC3, HERC1, HEXA, HMG20A, HOMER2, HYKK, HYPK, ICE2, IDH2, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INSYN1, INTS14, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, ITPKA, JMJD7, KBTBD13, KIF23, KIF7, KLHL25, LACTB, LARP6, LCMT2, LCTL, LDHAL6B, LEO1, LINC00928, LINGO1, LINS1, LIPC, LMAN1L, LOC100128979, LOXL1, LRRC28, LRRC49, LRRC57, LRRK1, LTK, LYSMD2, LYSMD4, MAN2A2, MAN2C1, MAP1A, MAP2K1, MAP2K5, MAPK6, MAPKBP1, MCTP2, MEF2A, MEGF11, MESD, MESP1, MESP2, MEX3B, MFAP1, MFGE8, MGA, MINAR1, MINDY2, MIR184, MIR9-3, MNS1, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, MYZAP, NEDD4, NEIL1, NEO1, NGRN, NMB, NOX5, NPTN, NR2E3, NR2F2, NRG4, NTRK3, OAZ2, ODF3L1, ONECUT1, OR4F6, PAQR5, PARP16, PARP6, PATL2, PCLAF, PCSK6, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGPEP1L, PIAS1, PIERCE2, PIF1, PIGB, PKM, PLA2G4B, PLA2G4D, PLA2G4E, PLA2G4F, PLEKHO2, PLIN1, PML, POLG, POLR2M, PPCDC, PPIB, PPIP5K1, PRC1, PRTG, PSMA4, PSTPIP1, PTPN9, PYGO1, RAB11A, RAB27A, RAB8B, RAMAC, RASGRF1, RASL12, RBPMS2, RCCD1, RCN2, REC114, RFX7, RGMA, RHCG, RLBP1, RNF111, RNU5A-1, RNU6-1, RORA, RPAP1, RPL4, RPLP1, RPP25, RPS17, RPS27L, RSL24D1, RTF1, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SCG3, SEC11A, SECISBP2L, SELENOS, SEMA4B, SEMA6D, SEMA7A, SENP8, SERF2, SERINC4, SH2D7, SH3GL3, SHC4, SHF, SIN3A, SKIC8, SKOR1, SLC12A1, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLCO3A1, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNRPA1, SNUPN, SNX1, SNX22, SNX33, SORD, SPATA8, SPESP1, SPG11, SPG21, SPPL2A, SPTBN5, SQOR, ST20, ST20-MTHFS, ST8SIA2, STARD5, STARD9, STOML1, STRA6, STRC, SV2B, SYNM, TARS3, TBC1D21, TBC1D2B, TCF12, TERB2, TEX9, TGM5, TGM7, THAP10, THSD4, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMED3, TMEM202, TMEM266, TMEM62, TMEM87A, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TPM1, TRIM69, TRIP4, TRPM7, TSPAN3, TTBK2, TTC23, TUBGCP4, TYRO3, UACA, UBAP1L, UBE2Q2, UBL7, UBR1, ULK3, UNC13C, UNC45A, USP3, USP50, USP8, VPS13C, VPS33B, VPS39, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF774, ZSCAN2, ZSCAN29, ZWILCH | | See cases | Pathogenic | no assertion criteria provided |