| - GRCh37:
- Chr15:60120659-102461201
- GRCh38:
- Chr15:59828460-101920998
| AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, ADPGK-AS1, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANKDD1A, ANKRD34C, ANKRD34C-AS1, ANP32A, ANP32A-IT1, ANPEP, ANXA2, AP3B2, AP3S2, APH1B, ARID3B, ARIH1, ARNT2, ARNT2-DT, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BBS4, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf39, C15orf40, C15orf61, C2CD4A, C2CD4B, CA12, CALML4, CARMAL, CCDC33, CD276, CELF6, CEMIP, CERS3, CERS3-AS1, CFAP161, CHASERR, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIAO2A, CIB1, CIB2, CILP, CLK3, CLN6, CLPX, COMMD4, CORO2B, COX5A, CPEB1, CPEB1-AS1, CPLX3, CRABP1, CRAT37, CRTC3, CRTC3-AS1, CSK, CSNK1G1, CSPG4, CT62, CTSH, CTXND1, CYP11A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DIS3L-AS1, DNAJA4, DNAJA4-DT, DPP8, DRAIC, EDC3, EFL1, ETFA, EWSAT1, FAH, FAM174B, FAM219B, FANCI, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FES, FOXB1, FSD2, FURIN, GCAWKR, GDPGP1, GLCE, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L10, GOLGA6L4, GOLGA6L9, GRAMD2A, HACD3, HAPLN3, HCN4, HDDC3, HDGFL3, HERC1, HEXA, HEXA-AS1, HIGD2B, HMG20A, HOMER2, HYKK, ICE2, IDH2, IDH2-DT, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INSYN1, INSYN1-AS1, INTS14, IQCH, IQCH-AS1, IQGAP1, IRAIN, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, KBTBD13, KIF23, KIF23-AS1, KIF7, KLHL25, LACTB, LARP6, LCTL, LETR1, LINC00052, LINC00593, LINC00597, LINC00923, LINC00924, LINC00927, LINC00928, LINC00930, LINC00933, LINC01169, LINC01418, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02204, LINC02205, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02349, LINC02351, LINC02568, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100128979, LOC100129540, LOC100507472, LOC101927310, LOC101928988, LOC101929439, LOC101929457, LOC101929586, LOC102723335, LOC102724034, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC107984784, LOC107988046, LOC107992387, LOC108251791, LOC108281191, LOC108964933, LOC110120860, LOC110120861, LOC110120917, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121491, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111365216, LOC111413015, LOC111413032, LOC111413043, LOC111562369, LOC111718493, LOC111822949, LOC112272574, LOC112272602, LOC112272603, LOC112272604, LOC112272605, LOC112272606, LOC112272607, LOC112272608, LOC112272609, LOC112272610, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC112272621, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC113939945, LOC113939946, LOC113939947, LOC114827858, LOC116268467, LOC116268468, LOC116268469, LOC116268470, LOC116268471, LOC116268472, LOC116268473, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC120285840, LOC121530585, LOC121530586, LOC121530587, LOC121530588, LOC121530589, LOC121530590, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121530595, LOC121530596, LOC121530597, LOC121530598, LOC121530599, LOC121530600, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847953, LOC121847954, LOC121847955, LOC121847956, LOC121847957, LOC121847958, LOC121847959, LOC121847960, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125078089, LOC125078090, LOC125078091, LOC125078093, LOC125078094, LOC125078095, LOC125078096, LOC125078097, LOC125078098, LOC125078099, LOC125078100, LOC125078101, LOC125078102, LOC125078103, LOC125078104, LOC125110343, LOC125110344, LOC125110345, LOC125110346, LOC125110347, LOC125110348, LOC125110349, LOC125110350, LOC125110351, LOC125110352, LOC125110353, LOC125110354, LOC125110355, LOC125110356, LOC125110357, LOC125138289, LOC125138290, LOC125138291, LOC125138292, LOC125138293, LOC125138294, LOC125138295, LOC125138296, LOC125138297, LOC125138298, LOC125138299, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862143, LOC126862144, LOC126862145, LOC126862146, LOC126862147, LOC126862148, LOC126862149, LOC126862150, LOC126862151, LOC126862152, LOC126862153, LOC126862154, LOC126862155, LOC126862156, LOC126862157, LOC126862158, LOC126862159, LOC126862160, LOC126862161, LOC126862162, LOC126862163, LOC126862164, LOC126862165, LOC126862166, LOC126862167, LOC126862168, LOC126862169, LOC126862170, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC126862183, LOC126862184, LOC126862185, LOC126862186, LOC126862187, LOC126862188, LOC126862189, LOC126862190, LOC126862191, LOC126862192, LOC126862193, LOC126862194, LOC126862195, LOC126862196, LOC126862197, LOC126862198, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LOC128071545, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC28, LRRC49, LRRK1, LUNAR1, LYSMD4, MAN2A2, MAN2C1, MAP2K1, MAP2K5, MCTP2, MEF2A, MEGF11, MESD, MESP1, MESP2, MEX3B, MFGE8, MGC15885, MINAR1, MIR11181, MIR1179, MIR12135, MIR1272, MIR1276, MIR1469, MIR184, MIR190A, MIR3174, MIR3175, MIR3529, MIR3713, MIR422A, MIR4311, MIR4312, MIR4313, MIR4511, MIR4512, MIR4513, MIR4514, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR549A, MIR5572, MIR6085, MIR629, MIR630, MIR631, MIR6766, MIR6881, MIR6882, MIR7-2, MIR7706, MIR8067, MIR9-3, MIR9-3HG, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MYO9A, NEIL1, NEO1, NGRN, NMB, NOX5, NPTN, NPTN-IT1, NR2E3, NR2F2, NR2F2-AS1, NRG4, NTRK3, NTRK3-AS1, OAZ2, ODF3L1, OR4F15, OR4F6, PAQR5, PAQR5-DT, PARP16, PARP6, PCAT29, PCLAF, PCSK6, PCSK6-AS1, PDCD7, PDE8A, PEAK1, PEX11A, PGPEP1L, PIAS1, PIF1, PIRC76, PKM, PLEKHO2, PLIN1, PML, POLG, POLGARF, PPCDC, PPIB, PRC1, PRC1-AS1, PSMA4, PSTPIP1, PTPN9, RAB11A, RAB8B, RAMAC, RASGRF1, RASL12, RBPMS2, RCCD1, RCCD1-AS1, RCN2, REC114, RGMA, RHCG, RLBP1, RNU5A-1, RNU5B-1, RNU6-1, RORA, RORA-AS1, RORA-AS2, RPL4, RPLP1, RPP25, RPS17, RPS27L, SALRNA2, SALRNA3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA14, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SENP8, SH2D7, SH3GL3, SLC51B, SIN3A, SKIC8, SKOR1, SKOR1-AS1, SLC24A1, SLC28A1, SLCO3A1, SMAD3, SMAD3-DT, SMAD6, SMASR, SNAPC5, SNHG21, SNORA24B, SNORD13E, SNORD16, SNORD18A, SNORD18B, SNORD18C, SNRPA1, SNRPA1-DT, SNUPN, SNX1, SNX22, SNX33, SPATA41, SPATA8, SPATA8-AS1, SPESP1, SPG21, ST20, ST20-AS1, ST20-MTHFS, ST8SIA2, STARD5, STOML1, STRA6, SV2B, SYNM, SYNM-AS1, TARS3, TBC1D21, TBC1D2B, THAP10, THSD4, THSD4-AS1, THSD4-AS2, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMC3-AS1, TMED3, TMEM202, TMEM202-AS1, TMEM266, TPM1, TPM1-AS, TRC-GCA5-1, TRIP4, TRK-CTT1-2, TRQ-CTG1-4, TRR-TCG1-1, TSPAN3, TTC23, TTLL13, UACA, UBAP1L, UBE2Q2, UBL7, UBL7-DT, ULK3, UNC45A, USP3, USP3-AS1, VPS13C, VPS13C-DT, VPS33B, VPS33B-DT, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF609, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2, ZWILCH | | See cases | Pathogenic (Oct 24, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr15:72447290-102461201
- GRCh38:
- Chr15:72154949-101920998
| ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, ADPGK-AS1, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANKRD34C, ANKRD34C-AS1, ANPEP, AP3B2, AP3S2, ARID3B, ARIH1, ARNT2, ARNT2-DT, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BBS4, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf39, C15orf40, CARMAL, CCDC33, CD276, CELF6, CEMIP, CERS3, CERS3-AS1, CFAP161, CHASERR, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIB1, CIB2, CLK3, COMMD4, COX5A, CPEB1, CPEB1-AS1, CPLX3, CRABP1, CRAT37, CRTC3, CRTC3-AS1, CSK, CSPG4, CTSH, CTXND1, CYP11A1, CYP1A1, CYP1A2, DET1, DNAJA4, DNAJA4-DT, EDC3, EFL1, ETFA, FAH, FAM174B, FAM219B, FANCI, FBXO22, FBXO22-AS1, FES, FSD2, FURIN, GCAWKR, GDPGP1, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L10, GOLGA6L4, GOLGA6L9, GRAMD2A, HAPLN3, HCN4, HDDC3, HDGFL3, HEXA, HEXA-AS1, HIGD2B, HMG20A, HOMER2, HYKK, IDH2, IDH2-DT, IDH3A, IGF1R, IL16, IMP3, INSYN1, INSYN1-AS1, IQGAP1, IRAIN, IREB2, ISG20, ISL2, ISLR, ISLR2, KIF7, KLHL25, LETR1, LINC00052, LINC00597, LINC00923, LINC00924, LINC00927, LINC00928, LINC00930, LINC00933, LINC01418, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02351, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100129540, LOC100507472, LOC101927310, LOC101929439, LOC101929457, LOC101929586, LOC102723335, LOC102724034, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC108251791, LOC108281191, LOC108964933, 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, LOC113939942, LOC113939947, LOC114827858, LOC116268468, LOC116268469, LOC116268470, LOC116268471, LOC116268472, LOC116268473, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121530595, LOC121530596, LOC121530597, LOC121530598, LOC121530599, LOC121530600, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847956, LOC121847957, LOC121847958, LOC121847959, LOC121847960, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125110357, LOC125138289, LOC125138290, LOC125138291, LOC125138292, LOC125138293, LOC125138294, LOC125138295, LOC125138296, LOC125138297, LOC125138298, LOC125138299, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC126862183, LOC126862184, LOC126862185, LOC126862186, LOC126862187, LOC126862188, LOC126862189, LOC126862190, LOC126862191, LOC126862192, LOC126862193, LOC126862194, LOC126862195, LOC126862196, LOC126862197, LOC126862198, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LOC128071545, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MAN2C1, MCTP2, MEF2A, MESD, MESP1, MESP2, MEX3B, MFGE8, MINAR1, MIR11181, MIR1179, MIR12135, MIR1276, MIR1469, MIR184, MIR3174, MIR3175, MIR3529, MIR3713, MIR4313, MIR4513, MIR4514, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR549A, MIR5572, MIR630, MIR631, MIR6766, MIR6881, MIR6882, MIR7-2, MIR7706, MIR9-3, MIR9-3HG, MORF4L1, MPI, MRPL46, MRPS11, MTHFS, NEIL1, NEO1, NGRN, NMB, NPTN, NPTN-IT1, NR2F2, NR2F2-AS1, NRG4, NTRK3, NTRK3-AS1, ODF3L1, OR4F15, OR4F6, PARP6, PCSK6, PCSK6-AS1, PDE8A, PEAK1, PEX11A, PGPEP1L, PIRC76, PKM, PLIN1, PML, POLG, POLGARF, PPCDC, PRC1, PRC1-AS1, PSMA4, PSTPIP1, PTPN9, RAMAC, RASGRF1, RCCD1, RCCD1-AS1, RCN2, REC114, RGMA, RHCG, RLBP1, RPP25, RPS17, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SH2D7, SH3GL3, SIN3A, SKIC8, SLC28A1, SLCO3A1, SNHG21, SNRPA1, SNRPA1-DT, SNUPN, SNX33, SPATA41, SPATA8, SPATA8-AS1, ST20, ST20-AS1, ST20-MTHFS, ST8SIA2, STARD5, STOML1, STRA6, SV2B, SYNM, SYNM-AS1, TARS3, TBC1D21, TBC1D2B, TICRR, TLNRD1, TM2D3, TM6SF1, TMC3, TMC3-AS1, TMED3, TMEM202, TMEM202-AS1, TMEM266, TRC-GCA5-1, TRK-CTT1-2, TRR-TCG1-1, TSPAN3, TTC23, TTLL13, UBE2Q2, UBL7, UBL7-DT, ULK3, UNC45A, VPS33B, VPS33B-DT, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2 | | See cases | Pathogenic (Sep 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr15:83528428-102351195
- GRCh38:
- Chr15:82859676-101810992
| ABHD2, ACAN, ADAMTS17, ADAMTSL3, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, BNC1, BTBD1, C15orf32, C15orf40, CARMAL, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, DET1, FAM174B, FANCI, FES, FURIN, GCAWKR, GDPGP1, GOLGA6L4, HAPLN3, HDDC3, HDGFL3, HOMER2, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, ISG20, KIF7, KLHL25, LETR1, LINC00052, LINC00923, LINC00924, LINC00928, LINC00930, LINC00933, LINC01579, LINC01580, LINC01581, LINC01582, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINC02883, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111718493, LOC111822949, LOC112272574, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC114827858, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530600, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125138299, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR11181, MIR1179, MIR1276, MIR1469, MIR3174, MIR3175, MIR3529, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR6766, MIR7-2, MIR7706, MIR9-3, MIR9-3HG, MRPL46, MRPS11, NGRN, NMB, NR2F2, NR2F2-AS1, NTRK3, NTRK3-AS1, OR4F6, PCSK6, PCSK6-AS1, PDE8A, PEX11A, PGPEP1L, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RAMAC, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SEC11A, SELENOS, SEMA4B, SH3GL3, SLC28A1, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TICRR, TM2D3, TM6SF1, TRR-TCG1-1, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR73, WDR93, ZNF592, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2 | | See cases | Pathogenic (Oct 14, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr15:84380129-102383473
- GRCh38:
- Chr15:83711377-101843270
| ABHD2, ACAN, ADAMTS17, ADAMTSL3, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CARMAL, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, DET1, FAM174B, FANCI, FES, FURIN, GCAWKR, GDPGP1, GOLGA6L4, HAPLN3, HDDC3, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, ISG20, KIF7, KLHL25, LETR1, LINC00052, LINC00923, LINC00924, LINC00928, LINC00930, LINC00933, LINC01579, LINC01580, LINC01581, LINC01582, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINC02883, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111718493, LOC111822949, LOC112272574, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC114827858, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR11181, MIR1179, MIR1276, MIR1469, MIR3174, MIR3175, MIR3529, MIR4714, MIR5009, MIR5094, MIR548AP, MIR6766, MIR7-2, MIR7706, MIR9-3, MIR9-3HG, MRPL46, MRPS11, NGRN, NMB, NR2F2, NR2F2-AS1, NTRK3, NTRK3-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PDE8A, PEX11A, PGPEP1L, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SEC11A, SELENOS, SEMA4B, SLC28A1, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TICRR, TM2D3, TRR-TCG1-1, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR73, WDR93, ZNF592, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2 | | See cases | Pathogenic (Oct 19, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr15:84837905-102445132
- GRCh38:
- Chr15:84169153-101904929
| ABHD2, ACAN, ADAMTS17, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CARMAL, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, DET1, FAM174B, FANCI, FES, FURIN, GCAWKR, GDPGP1, GOLGA6L4, HAPLN3, HDDC3, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, ISG20, KIF7, KLHL25, LETR1, LINC00052, LINC00923, LINC00924, LINC00928, LINC00930, LINC00933, LINC01579, LINC01580, LINC01581, LINC01582, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINC02883, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111718493, LOC111822949, LOC112272574, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC114827858, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR11181, MIR1179, MIR1276, MIR1469, MIR3174, MIR3175, MIR3529, MIR4714, MIR5009, MIR5094, MIR548AP, MIR6766, MIR7-2, MIR7706, MIR9-3, MIR9-3HG, MRPL46, MRPS11, NGRN, NMB, NR2F2, NR2F2-AS1, NTRK3, NTRK3-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PDE8A, PEX11A, PGPEP1L, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SEC11A, SELENOS, SEMA4B, SLC28A1, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TICRR, TM2D3, TRR-TCG1-1, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR73, WDR93, ZNF592, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85940770-102429112
- GRCh38:
- Chr15:85397539-101888909
| LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC114827858, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR11181, MIR1179, MIR1276, MIR1469, MIR3174, MIR3175, MIR3529, MIR4714, MIR5009, MIR5094, MIR548AP, MIR6766, MIR7-2, MIR9-3, MIR9-3HG, MRPL46, MRPS11, NGRN, NR2F2, NR2F2-AS1, NTRK3, NTRK3-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PEX11A, PGPEP1L, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SELENOS, SEMA4B, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TICRR, TM2D3, TRR-TCG1-1, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR93, ZNF710, ZNF710-AS1, ZNF774, ABHD2, ACAN, ADAMTS17, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CARMAL, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, DET1, FAM174B, FANCI, FES, FURIN, GCAWKR, GDPGP1, HAPLN3, HDDC3, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, ISG20, KIF7, KLHL25, LETR1, LINC00052, LINC00923, LINC00924, LINC00928, LINC00930, LINC01579, LINC01580, LINC01581, LINC01582, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINC02883, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC102724452, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111822949, LOC112272574, LOC112272622, LOC112272623, LOC112296173, LOC112296174 | | See cases | Pathogenic (Jul 16, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr15:86369896-102461201
- GRCh38:
- Chr15:85826665-101920998
| LINC01579, LINC01580, LINC01581, LINC01582, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC102724452, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111822949, LOC112272574, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC114827858, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR11181, MIR1179, MIR1469, MIR3174, MIR3175, MIR3529, MIR4714, MIR5009, MIR5094, MIR6766, MIR7-2, MIR9-3, MIR9-3HG, MRPL46, MRPS11, NGRN, NR2F2, NR2F2-AS1, NTRK3, NTRK3-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PEX11A, PGPEP1L, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SELENOS, SEMA4B, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TICRR, TM2D3, TRR-TCG1-1, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR93, ZNF710, ZNF710-AS1, ZNF774, ABHD2, ACAN, ADAMTS17, AEN, AGBL1, AGBL1-AS1, ALDH1A3, ALDH1A3-AS1, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CARMAL, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, DET1, FAM174B, FANCI, FES, FURIN, GCAWKR, GDPGP1, HAPLN3, HDDC3, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, ISG20, KIF7, LETR1, LINC00052, LINC00923, LINC00924, LINC00928, LINC00930 | | See cases | Pathogenic (Mar 21, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr15:88447966-102383473
- GRCh38:
- Chr15:87904735-101843270
| ABHD2, ACAN, ADAMTS17, AEN, ALDH1A3, ALDH1A3-AS1, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CARMAL, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, DET1, FAM174B, FANCI, FES, FURIN, GCAWKR, GDPGP1, HAPLN3, HDDC3, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, ISG20, KIF7, LETR1, LINC00923, LINC00924, LINC00928, LINC00930, LINC01579, LINC01580, LINC01581, LINC01582, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC104613533, LOC105369212, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111822949, LOC112272574, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC114827858, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR11181, MIR1179, MIR1469, MIR3174, MIR3175, MIR3529, MIR4714, MIR5009, MIR5094, MIR6766, MIR7-2, MIR9-3, MIR9-3HG, MRPL46, MRPS11, NGRN, NR2F2, NR2F2-AS1, NTRK3, NTRK3-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PEX11A, PGPEP1L, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SELENOS, SEMA4B, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TICRR, TM2D3, TRR-TCG1-1, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR93, ZNF710, ZNF710-AS1, ZNF774 | | See cases | Pathogenic (Jan 24, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr15:89219806-98907972
- GRCh38:
- Chr15:88676575-98364743
| ABHD2, ACAN, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, BLM, C15orf32, CARMAL, CHASERR, CHD2, CIB1, CRAT37, CRTC3, CRTC3-AS1, FAM174B, FANCI, FES, FURIN, GDPGP1, HAPLN3, HDDC3, IDH2, IDH2-DT, IQGAP1, KIF7, LETR1, LINC00923, LINC00924, LINC00928, LINC00930, LINC01579, LINC01580, LINC01581, LINC01582, LINC01585, LINC02207, LINC02251, LINC02253, LINC02254, LINC02351, LOC101927310, LOC104613533, LOC105369212, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC111413032, LOC111822949, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, MAN2A2, MCTP2, MESP1, MESP2, MFGE8, MIR1469, MIR3174, MIR3175, MIR5009, MIR5094, MIR6766, MIR9-3, MIR9-3HG, NGRN, NR2F2, NR2F2-AS1, PEX11A, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SEMA4B, SLCO3A1, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, TICRR, TRR-TCG1-1, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR93, ZNF710, ZNF710-AS1, ZNF774 | | See cases | Pathogenic (Dec 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr15:90222468-102519161
- GRCh38:
- Chr15:89679237-101978958
| ADAMTS17, ALDH1A3, ALDH1A3-AS1, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, FAM138E, FAM174B, FES, FURIN, GCAWKR, GDPGP1, HDDC3, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, LETR1, LINC00923, LINC00924, LINC00930, LINC01579, LINC01580, LINC01581, LINC01582, LINC01585, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC104613533, LOC105369212, LOC105370980, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111822949, LOC112272574, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC116268479, LOC117204000, LOC117204001, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MIR1302-10, MIR1469, MIR3174, MIR3175, MIR4714, MIR5009, MIR5094, MIR6859-3, NGRN, NR2F2, NR2F2-AS1, OR4F15, OR4F4, OR4F6, PCSK6, PCSK6-AS1, PEX11A, PGPEP1L, PIRC76, PLIN1, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, SELENOS, SEMA4B, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TM2D3, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR93, ZNF710, ZNF710-AS1, ZNF774 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90276350
- GRCh38:
- Chr15:89733119
| WDR93, MESP1 | K454E, K482E | Inborn genetic diseases | Uncertain significance (Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90281353
- GRCh38:
- Chr15:89738122
| WDR93, MESP1 | P588L, P616L | Inborn genetic diseases | Uncertain significance (Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90281422
- GRCh38:
- Chr15:89738191
| MESP1, WDR93 | Q611P, Q639P | Inborn genetic diseases | Uncertain significance (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90281955-90331282
- GRCh38:
- Chr15:89738724-89788051
| ANPEP, MESP1, MESP2, WDR93 | | See cases | Uncertain significance (Nov 27, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr15:90286525
- GRCh38:
- Chr15:89743294
| WDR93, MESP1 | Y627S, Y655S | Inborn genetic diseases | Uncertain significance (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293423
- GRCh38:
- Chr15:89750192
| MESP1 | | not provided | Benign (Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293456
- GRCh38:
- Chr15:89750225
| MESP1 | | not provided | Likely benign (Feb 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293466
- GRCh38:
- Chr15:89750235
| MESP1 | | not provided | Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293776
- GRCh38:
- Chr15:89750545
| MESP1 | | not provided | Benign (Nov 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293794
- GRCh38:
- Chr15:89750563
| MESP1 | F223L | not provided | Benign (Nov 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293802
- GRCh38:
- Chr15:89750571
| MESP1 | A221S | not provided | Uncertain significance (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293806
- GRCh38:
- Chr15:89750575
| MESP1 | | not provided | Benign (Nov 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293813
- GRCh38:
- Chr15:89750582
| MESP1 | R217H | not provided | Benign (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293836
- GRCh38:
- Chr15:89750605
| MESP1 | | not provided | Likely benign (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293839
- GRCh38:
- Chr15:89750608
| MESP1 | | not provided | Likely benign (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293895
- GRCh38:
- Chr15:89750664
| MESP1 | G190C | Inborn genetic diseases, not provided | Uncertain significance (Jan 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90293903
- GRCh38:
- Chr15:89750672
| MESP1 | R187L | not provided | Uncertain significance (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293937
- GRCh38:
- Chr15:89750706
| MESP1 | T176S | not provided | Likely benign (Sep 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293943
- GRCh38:
- Chr15:89750712
| MESP1 | M174V | not provided | Benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90293960
- GRCh38:
- Chr15:89750729
| MESP1 | D168G | not provided | Benign (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294004
- GRCh38:
- Chr15:89750773
| MESP1 | Q153H | not provided | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294010
- GRCh38:
- Chr15:89750779
| MESP1 | C151W | not provided | Benign (Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294014
- GRCh38:
- Chr15:89750783
| MESP1 | R150Q | not provided | Uncertain significance (Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294028
- GRCh38:
- Chr15:89750797
| MESP1 | E145D | not provided | Benign (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294035
- GRCh38:
- Chr15:89750804
| MESP1 | S143T | Inborn genetic diseases | Uncertain significance (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294106
- GRCh38:
- Chr15:89750875
| MESP1 | | not provided | Likely benign (Nov 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294118
- GRCh38:
- Chr15:89750887
| MESP1 | | not provided | Benign (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294131
- GRCh38:
- Chr15:89750900
| MESP1 | P111Q | not provided | Uncertain significance (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294132
- GRCh38:
- Chr15:89750901
| MESP1 | P111A | Inborn genetic diseases | Uncertain significance (Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294155
- GRCh38:
- Chr15:89750924
| MESP1 | H103P | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294192
- GRCh38:
- Chr15:89750961
| MESP1 | E91fs | not provided | Uncertain significance (Nov 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294199
- GRCh38:
- Chr15:89750968
| MESP1 | | not provided | Likely benign (Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294204
- GRCh38:
- Chr15:89750973
| MESP1 | A87T | not provided | Uncertain significance (Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294219
- GRCh38:
- Chr15:89750988
| MESP1 | G82R | Inborn genetic diseases, not provided | Uncertain significance (Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90294222
- GRCh38:
- Chr15:89750991
| MESP1 | S81G | not provided | Benign (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294227
- GRCh38:
- Chr15:89750996
| MESP1 | L79P | not provided | Uncertain significance (May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294229
- GRCh38:
- Chr15:89750998
| MESP1 | | not provided | Likely benign (Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294245
- GRCh38:
- Chr15:89751014
| MESP1 | G73D | not provided | Benign (Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294254
- GRCh38:
- Chr15:89751023
| MESP1 | G70D | not provided | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294257
- GRCh38:
- Chr15:89751026
| MESP1 | V69A | not provided | Uncertain significance (Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294259
- GRCh38:
- Chr15:89751028
| MESP1 | | not provided | Benign (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294263
- GRCh38:
- Chr15:89751032
| MESP1 | P67R | Inborn genetic diseases | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294272
- GRCh38:
- Chr15:89751041
| MESP1 | P64L | Inborn genetic diseases | Uncertain significance (Nov 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294281
- GRCh38:
- Chr15:89751050
| MESP1 | L61R | not provided | Benign (Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294289
- GRCh38:
- Chr15:89751058
| MESP1 | | not provided | Benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294294
- GRCh38:
- Chr15:89751063
| MESP1 | R57W | Inborn genetic diseases | Uncertain significance (Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294296-90294297
- GRCh38:
- Chr15:89751065-89751066
| MESP1 | | not provided | Benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294304-90294305
- GRCh38:
- Chr15:89751073-89751074
| MESP1 | S54fs | not provided | Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr15:90294306
- GRCh38:
- Chr15:89751075
| MESP1 | A53P | not provided | Benign (Nov 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294307-90294308
- GRCh38:
- Chr15:89751076-89751077
| MESP1 | A53fs | not specified | Benign | no assertion criteria provided |
| - GRCh37:
- Chr15:90294310
- GRCh38:
- Chr15:89751079
| MESP1 | | not provided | Benign (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294316
- GRCh38:
- Chr15:89751085
| MESP1 | | not provided | Benign (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294324
- GRCh38:
- Chr15:89751093
| MESP1 | P47A | Congenital heart disease | Uncertain significance (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294338
- GRCh38:
- Chr15:89751107
| MESP1 | S42L | Inborn genetic diseases | Uncertain significance (Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294363
- GRCh38:
- Chr15:89751132
| MESP1 | R34G | not provided | Benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294366
- GRCh38:
- Chr15:89751135
| MESP1 | G33S | Inborn genetic diseases, not provided | Uncertain significance (Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90294395
- GRCh38:
- Chr15:89751164
| MESP1 | R23P | Inborn genetic diseases | Uncertain significance (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294418
- GRCh38:
- Chr15:89751187
| MESP1 | | not provided | Benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294430
- GRCh38:
- Chr15:89751199
| MESP1 | E11D | not provided | Benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90294443
- GRCh38:
- Chr15:89751212
| MESP1 | P7L | Inborn genetic diseases | Uncertain significance (Jul 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89379429-91565479
| ABHD2, ACAN, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, BLM, CIB1, CRTC3, FANCI, FES, FURIN, GDPGP1, HAPLN3, HDDC3, IDH2, IQGAP1, KIF7, LINC00928, MAN2A2, MESP1, MESP2, MFGE8, MIR9-3, NGRN, PEX11A, PLIN1, POLG, PRC1, RCCD1, RHCG, RLBP1, SEMA4B, TICRR, UNC45A, VPS33B, WDR93, ZNF710, ZNF774 | | D-2-hydroxyglutaric aciduria 2, not provided | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:77512817-102035027
| ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, AEN, AGBL1, AKAP13, ALDH1A3, ALPK3, ANKRD34C, ANPEP, AP3B2, AP3S2, ARNT2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf40, CEMIP, CERS3, CFAP161, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIB1, CIB2, CPEB1, CRABP1, CRTC3, CTSH, DET1, DNAJA4, EFL1, FAH, FAM174B, FANCI, FES, FSD2, FURIN, GDPGP1, HAPLN3, HDDC3, HMG20A, HOMER2, HYKK, IDH2, IDH3A, IGF1R, IL16, IQGAP1, IREB2, ISG20, KIF7, KLHL25, LINC00928, LINGO1, LINS1, LRRC28, LRRK1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESD, MESP1, MESP2, MEX3B, MFGE8, MINAR1, MIR184, MIR9-3, MORF4L1, MRPL46, MRPS11, MTHFS, NGRN, NMB, NR2F2, NTRK3, PCSK6, PDE8A, PEAK1, PEX11A, PGPEP1L, PLIN1, POLG, PRC1, PSMA4, RAMAC, RASGRF1, RCCD1, RGMA, RHCG, RLBP1, RPS17, SAXO2, SCARNA15, SEC11A, SELENOS, SEMA4B, SH2D7, SH3GL3, SKIC8, SLC28A1, SLCO3A1, SNRPA1, SPATA8, ST20, ST20-MTHFS, ST8SIA2, STARD5, SV2B, SYNM, TBC1D2B, TICRR, TLNRD1, TM6SF1, TMC3, TMED3, TTC23, UNC45A, VPS33B, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF710, ZNF774, ZSCAN2 | | not provided | Pathogenic (Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89859982-90294462
| LINC00928, KIF7, MESP1, PEX11A, FANCI, MIR9-3, PLIN1, POLG, TICRR, RHCG, WDR93 | | not provided | Uncertain significance (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89520451-93926491
| ABHD2, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, BLM, C15orf32, CHD2, CIB1, CRTC3, FAM174B, FANCI, FES, FURIN, GDPGP1, HDDC3, IDH2, IQGAP1, KIF7, LINC00928, MAN2A2, MESP1, MESP2, MIR9-3, NGRN, PEX11A, PLIN1, POLG, PRC1, RCCD1, RGMA, RHCG, RLBP1, SEMA4B, SLCO3A1, ST8SIA2, SV2B, TICRR, UNC45A, VPS33B, WDR93, ZNF710, ZNF774 | | not provided | Pathogenic (Sep 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr15:88465861-94411846
| ABHD2, ACAN, AEN, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, BLM, C15orf32, CHD2, CIB1, CRTC3, DET1, FAM174B, FANCI, FES, FURIN, GDPGP1, HAPLN3, HDDC3, IDH2, IQGAP1, ISG20, KIF7, LINC00928, MAN2A2, MESP1, MESP2, MFGE8, MIR9-3, MRPL46, MRPS11, NGRN, NTRK3, PEX11A, PLIN1, POLG, PRC1, RCCD1, RGMA, RHCG, RLBP1, SEMA4B, SLCO3A1, ST8SIA2, SV2B, TICRR, UNC45A, VPS33B, WDR93, ZNF710, ZNF774 | | not provided | Pathogenic (Sep 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:32964879-91358519
| SRP14, ST20, CHRNA3, GCHFR, GCNT3, MFGE8, MGA, RASL12, RBPMS2, RNF111, RNU5A-1, REC114, RFX7, RNU6-1, RORA, RPAP1, RPL4, RPLP1, RHCG, RHOV, RLBP1, RMDN3, RCN2, MIR9-3, MNS1, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MYEF2, MYO1E, MYO5A, MINAR1, MINDY2, MIR184, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA8A, GRAMD2A, GREM1, GLCE, GLDN, GNB5, GDPGP1, GOLGA8B, GOLM2, GPR176, GJD2, CKMT1A, CORO2B, CKMT1B, CLK3, CLN6, CHRNA5, CHRNB4, CLPX, COMMD4, COPS2, CHST14, CIAO2A, CIB1, CIB2, CILP, ADPGK, AEN, STOML1, THSD4, TICRR, STARD5, STARD9, ST20-MTHFS, TBC1D2B, STRC, TBC1D21, STRA6, THBS1, SPG11, SPG21, SPINT1, SPPL2A, SPRED1, SPTBN5, SQOR, TCF12, TERB2, TEX9, TGM5, TGM7, THAP10, 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, ZSCAN2, ZSCAN29, ZWILCH, AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ACTC1, ADAL, ADAM10, ADAMTS7, ADAMTSL3, AFG2B, AGBL1, AKAP13, ALDH1A2, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANP32A, ANPEP, ANXA2, AP3B2, AP3S2, AP4E1, APH1B, AQP9, AQR, ARID3B, ARIH1, ARNT2, 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, 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, FAM219B, FAM227B, FAM81A, FAM98B, FANCI, FBN1, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FGF7, FOXB1, FRMD5, FSD2, FSIP1, GABPB1, GALK2, GANC, GATM, GTF2A2, HACD3, HAPLN3, HAUS2, HCN4, HDC, HERC1, HEXA, 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, LOC100128979, LOXL1, LPCAT4, LRRC49, LRRC57, LTK, LYSMD2, MAN2C1, MAP1A, MAP2K1, MAP2K5, MAPK6, MAPKBP1, MEGF11, MEIS2, MESD, MESP1, MESP2, MEX3B, MFAP1, MYO5C, MYO9A, MYZAP, NDUFAF1, NEDD4, NEIL1, NEO1, NGRN, NMB, NOP10, NOX5, NPTN, NR2E3, NRG4, NTRK3, NUSAP1, NUTM1, OAZ2, ODF3L1, 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, PPP1R14D, PRTG, PSMA4, PSTPIP1, PTPN9, PYGO1, RAB11A, RAB27A, RAB8B, RAD51, RAMAC, RASGRF1, RASGRP1, 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, SNX1, SNX22, SNX33, SORD, SPESP1 | | Bloom syndrome, Familial colorectal cancer | Uncertain significance (Feb 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:86962053-102531392
| ABHD2, ACAN, ADAMTS17, AEN, AGBL1, ALDH1A3, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CERS3, CHD2, CHSY1, CIB1, CRTC3, DET1, FAM174B, FANCI, FES, FURIN, GDPGP1, HAPLN3, HDDC3, IDH2, IGF1R, IQGAP1, ISG20, KIF7, LINC00928, LINS1, LRRC28, LRRK1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR9-3, MRPL46, MRPS11, NGRN, NR2F2, NTRK3, OR4F15, OR4F4, OR4F6, PCSK6, PEX11A, PGPEP1L, PLIN1, POLG, PRC1, RCCD1, RGMA, RHCG, RLBP1, SELENOS, SEMA4B, SLCO3A1, SNRPA1, SPATA8, ST8SIA2, SV2B, SYNM, TARS3, TICRR, TM2D3, TTC23, UNC45A, VPS33B, WDR93, ZNF710, ZNF774 | | See cases | Pathogenic (Aug 12, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr15:90111672-90671886
| ARPIN-AP3S2, ZNF710, PLIN1, MESP2, TICRR, ARPIN, IDH2, PEX11A, WDR93, AP3S2, KIF7, ANPEP, MESP1 | | not provided | Uncertain significance (Oct 4, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr15:87189245-102429112
| ABHD2, ACAN, ADAMTS17, AEN, AGBL1, ALDH1A3, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CERS3, CHD2, CHSY1, CIB1, CRTC3, DET1, FAM174B, FANCI, FES, FURIN, GDPGP1, HAPLN3, HDDC3, IDH2, IGF1R, IQGAP1, ISG20, KIF7, LINC00928, LINS1, LRRC28, LRRK1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR9-3, MRPL46, MRPS11, NGRN, NR2F2, NTRK3, OR4F15, OR4F6, PCSK6, PEX11A, PGPEP1L, PLIN1, POLG, PRC1, RCCD1, RGMA, RHCG, RLBP1, SELENOS, SEMA4B, SLCO3A1, SNRPA1, SPATA8, ST8SIA2, SV2B, SYNM, TARS3, TICRR, TM2D3, TTC23, UNC45A, VPS33B, WDR93, ZNF710, ZNF774 | | not provided | Pathogenic (Aug 13, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr15:90288175-102429112
| ADAMTS17, ALDH1A3, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CERS3, CHD2, CHSY1, CIB1, CRTC3, FAM174B, FES, FURIN, GDPGP1, HDDC3, IDH2, IGF1R, IQGAP1, LINS1, LRRC28, LRRK1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, NGRN, NR2F2, OR4F15, OR4F6, PCSK6, PGPEP1L, PRC1, RCCD1, RGMA, SELENOS, SEMA4B, SLCO3A1, SNRPA1, SPATA8, ST8SIA2, SV2B, SYNM, TARS3, TM2D3, TTC23, UNC45A, VPS33B, ZNF710, ZNF774 | | not provided | Pathogenic (Oct 26, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr15:83883823-92165844
| ABHD2, ACAN, ADAMTSL3, AEN, AGBL1, AKAP13, ALPK3, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, BLM, BNC1, CIB1, CRTC3, DET1, FANCI, FES, FURIN, GDPGP1, HAPLN3, HDDC3, IDH2, IQGAP1, ISG20, KIF7, KLHL25, LINC00928, MAN2A2, MESP1, MESP2, MFGE8, MIR9-3, MRPL46, MRPS11, NGRN, NMB, NTRK3, PDE8A, PEX11A, PLIN1, POLG, PRC1, RCCD1, RHCG, RLBP1, SEC11A, SEMA4B, SH3GL3, SLC28A1, SV2B, TICRR, UNC45A, VPS33B, WDR73, WDR93, ZNF592, ZNF710, ZNF774, ZSCAN2 | | not provided | Pathogenic (Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90277151-102376761
| ADAMTS17, ALDH1A3, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CERS3, CHD2, CHSY1, CIB1, CRTC3, FAM174B, FES, FURIN, GDPGP1, HDDC3, IDH2, IGF1R, IQGAP1, LINS1, LRRC28, LRRK1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, NGRN, NR2F2, OR4F15, OR4F6, PCSK6, PGPEP1L, PRC1, RCCD1, RGMA, SELENOS, SEMA4B, SLCO3A1, SNRPA1, SPATA8, ST8SIA2, SV2B, SYNM, TARS3, TM2D3, TTC23, UNC45A, VPS33B, WDR93, ZNF710, ZNF774 | | not provided | Pathogenic (Dec 24, 2010) | 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, |