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Items: 100

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Oct 24, 2012)
no assertion criteria provided
2.
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 casesPathogenic
(Sep 10, 2012)
no assertion criteria provided
3.
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 casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
4.
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 casesPathogenic
(Oct 19, 2010)
no assertion criteria provided
5.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
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 casesPathogenic
(Jul 16, 2013)
no assertion criteria provided
7.
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 casesPathogenic
(Mar 21, 2011)
no assertion criteria provided
8.
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 casesPathogenic
(Jan 24, 2011)
no assertion criteria provided
9.
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 casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
10.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
11.
GRCh37:
Chr15:90276350
GRCh38:
Chr15:89733119
WDR93, MESP1K454E, K482EInborn genetic diseasesUncertain significance
(Nov 9, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr15:90281353
GRCh38:
Chr15:89738122
WDR93, MESP1P588L, P616LInborn genetic diseasesUncertain significance
(Dec 14, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr15:90281422
GRCh38:
Chr15:89738191
MESP1, WDR93Q611P, Q639PInborn genetic diseasesUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr15:90281955-90331282
GRCh38:
Chr15:89738724-89788051
ANPEP, MESP1, MESP2, WDR93See casesUncertain significance
(Nov 27, 2013)
no assertion criteria provided
15.
GRCh37:
Chr15:90286525
GRCh38:
Chr15:89743294
WDR93, MESP1Y627S, Y655SInborn genetic diseasesUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr15:90293423
GRCh38:
Chr15:89750192
MESP1not providedBenign
(Aug 5, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr15:90293456
GRCh38:
Chr15:89750225
MESP1not providedLikely benign
(Feb 7, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr15:90293466
GRCh38:
Chr15:89750235
MESP1not providedLikely benign
(Mar 8, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr15:90293776
GRCh38:
Chr15:89750545
MESP1not providedBenign
(Nov 4, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr15:90293794
GRCh38:
Chr15:89750563
MESP1F223Lnot providedBenign
(Nov 4, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr15:90293802
GRCh38:
Chr15:89750571
MESP1A221Snot providedUncertain significance
(Sep 22, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr15:90293806
GRCh38:
Chr15:89750575
MESP1not providedBenign
(Nov 4, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr15:90293813
GRCh38:
Chr15:89750582
MESP1R217Hnot providedBenign
(Oct 27, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr15:90293836
GRCh38:
Chr15:89750605
MESP1not providedLikely benign
(Oct 12, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr15:90293839
GRCh38:
Chr15:89750608
MESP1not providedLikely benign
(Mar 26, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr15:90293895
GRCh38:
Chr15:89750664
MESP1G190CInborn genetic diseases, not providedUncertain significance
(Jan 18, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr15:90293903
GRCh38:
Chr15:89750672
MESP1R187Lnot providedUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr15:90293937
GRCh38:
Chr15:89750706
MESP1T176Snot providedLikely benign
(Sep 10, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr15:90293943
GRCh38:
Chr15:89750712
MESP1M174Vnot providedBenign
(Oct 25, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr15:90293960
GRCh38:
Chr15:89750729
MESP1D168Gnot providedBenign
(Oct 20, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr15:90294004
GRCh38:
Chr15:89750773
MESP1Q153Hnot providedUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr15:90294010
GRCh38:
Chr15:89750779
MESP1C151Wnot providedBenign
(Jul 4, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr15:90294014
GRCh38:
Chr15:89750783
MESP1R150Qnot providedUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr15:90294028
GRCh38:
Chr15:89750797
MESP1E145Dnot providedBenign
(Aug 10, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr15:90294035
GRCh38:
Chr15:89750804
MESP1S143TInborn genetic diseasesUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr15:90294106
GRCh38:
Chr15:89750875
MESP1not providedLikely benign
(Nov 11, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr15:90294118
GRCh38:
Chr15:89750887
MESP1not providedBenign
(Oct 27, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr15:90294131
GRCh38:
Chr15:89750900
MESP1P111Qnot providedUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr15:90294132
GRCh38:
Chr15:89750901
MESP1P111AInborn genetic diseasesUncertain significance
(Aug 16, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr15:90294155
GRCh38:
Chr15:89750924
MESP1H103Pnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr15:90294192
GRCh38:
Chr15:89750961
MESP1E91fsnot providedUncertain significance
(Nov 11, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr15:90294199
GRCh38:
Chr15:89750968
MESP1not providedLikely benign
(Aug 12, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr15:90294204
GRCh38:
Chr15:89750973
MESP1A87Tnot providedUncertain significance
(Aug 28, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr15:90294219
GRCh38:
Chr15:89750988
MESP1G82RInborn genetic diseases, not providedUncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr15:90294222
GRCh38:
Chr15:89750991
MESP1S81Gnot providedBenign
(Apr 6, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr15:90294227
GRCh38:
Chr15:89750996
MESP1L79Pnot providedUncertain significance
(May 21, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr15:90294229
GRCh38:
Chr15:89750998
MESP1not providedLikely benign
(Sep 17, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr15:90294245
GRCh38:
Chr15:89751014
MESP1G73Dnot providedBenign
(Feb 21, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr15:90294254
GRCh38:
Chr15:89751023
MESP1G70Dnot providedUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr15:90294257
GRCh38:
Chr15:89751026
MESP1V69Anot providedUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr15:90294259
GRCh38:
Chr15:89751028
MESP1not providedBenign
(Oct 27, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr15:90294263
GRCh38:
Chr15:89751032
MESP1P67RInborn genetic diseasesUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr15:90294272
GRCh38:
Chr15:89751041
MESP1P64LInborn genetic diseasesUncertain significance
(Nov 30, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr15:90294281
GRCh38:
Chr15:89751050
MESP1L61Rnot providedBenign
(Nov 3, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr15:90294289
GRCh38:
Chr15:89751058
MESP1not providedBenign
(Nov 1, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr15:90294294
GRCh38:
Chr15:89751063
MESP1R57WInborn genetic diseasesUncertain significance
(Nov 10, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr15:90294296-90294297
GRCh38:
Chr15:89751065-89751066
MESP1not providedBenign
(Nov 1, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr15:90294304-90294305
GRCh38:
Chr15:89751073-89751074
MESP1S54fsnot providedLikely benignno assertion criteria provided
59.
GRCh37:
Chr15:90294306
GRCh38:
Chr15:89751075
MESP1A53Pnot providedBenign
(Nov 4, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr15:90294307-90294308
GRCh38:
Chr15:89751076-89751077
MESP1A53fsnot specifiedBenignno assertion criteria provided
61.
GRCh37:
Chr15:90294310
GRCh38:
Chr15:89751079
MESP1not providedBenign
(Oct 27, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr15:90294316
GRCh38:
Chr15:89751085
MESP1not providedBenign
(Jun 13, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr15:90294324
GRCh38:
Chr15:89751093
MESP1P47ACongenital heart diseaseUncertain significance
(Feb 2, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr15:90294338
GRCh38:
Chr15:89751107
MESP1S42LInborn genetic diseasesUncertain significance
(Nov 9, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr15:90294363
GRCh38:
Chr15:89751132
MESP1R34Gnot providedBenign
(Aug 31, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr15:90294366
GRCh38:
Chr15:89751135
MESP1G33SInborn genetic diseases, not providedUncertain significance
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr15:90294395
GRCh38:
Chr15:89751164
MESP1R23PInborn genetic diseasesUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr15:90294418
GRCh38:
Chr15:89751187
MESP1not providedBenign
(Aug 16, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr15:90294430
GRCh38:
Chr15:89751199
MESP1E11Dnot providedBenign
(Nov 1, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr15:90294443
GRCh38:
Chr15:89751212
MESP1P7LInborn genetic diseasesUncertain significance
(Jul 6, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr15:89379429-91565479
D-2-hydroxyglutaric aciduria 2, not providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr15:77512817-102035027
not providedPathogenic
(Nov 9, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr15:89859982-90294462
not providedUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr15:89520451-93926491
not providedPathogenic
(Sep 14, 2020)
no assertion criteria provided
75.
GRCh37:
Chr15:88465861-94411846
not providedPathogenic
(Sep 7, 2021)
criteria provided, single submitter
76.
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 cancerUncertain significance
(Feb 6, 2020)
criteria provided, single submitter
77.
GRCh37:
Chr15:86962053-102531392
See casesPathogenic
(Aug 12, 2020)
no assertion criteria provided
78.
GRCh37:
Chr15:90111672-90671886
not providedUncertain significance
(Oct 4, 2018)
no assertion criteria provided
79.
GRCh37:
Chr15:87189245-102429112
not providedPathogenic
(Aug 13, 2018)
no assertion criteria provided
80.
GRCh37:
Chr15:90288175-102429112
not providedPathogenic
(Oct 26, 2017)
no assertion criteria provided
81.
GRCh37:
Chr15:83883823-92165844
not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr15:90277151-102376761
not providedPathogenic
(Dec 24, 2010)
no assertion criteria provided
83.
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 providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
84.
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,