| - 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:
- Chr15:70317639-78998335
- GRCh38:
- Chr15:70025300-78705993
| ACSBG1, ADPGK, ADPGK-AS1, ARID3B, ARIH1, BBS4, C15orf39, CCDC33, CD276, CELF6, CHRNA3, CHRNA5, CHRNB4, CIB2, CLK3, COMMD4, COX5A, CPLX3, CRABP1, CSK, CSPG4, CT62, CYP11A1, CYP1A1, CYP1A2, DNAJA4, DNAJA4-DT, EDC3, ETFA, FAM219B, FBXO22, FBXO22-AS1, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GRAMD2A, HCN4, HEXA, HEXA-AS1, HIGD2B, HMG20A, HYKK, IDH3A, IMP3, INSYN1, INSYN1-AS1, IREB2, ISL2, ISLR, ISLR2, LARP6, LINC00597, LINC02204, LINC02205, LINC02255, LINC02259, LINGO1, LINGO1-AS1, LINGO1-AS2, LMAN1L, LOC101929439, LOC101929457, LOC108964933, LOC110120861, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111562369, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC116268468, LOC116268469, LOC116268470, LOC116268471, LOC116268472, LOC120285840, LOC121530588, LOC121530589, LOC121530590, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121530595, LOC121530596, LOC121847956, LOC121847957, LOC121847958, LOC121847959, LOC121847960, LOC125110353, LOC125110354, LOC125110355, LOC125110356, LOC125110357, LOC125138289, LOC125138290, LOC125138291, LOC125138292, LOC126862167, LOC126862168, LOC126862169, LOC126862170, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC126862183, LOC126862184, LOC126862185, LOC126862186, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC49, MAN2C1, MIR12135, MIR3713, MIR4313, MIR4513, MIR629, MIR630, MIR631, MIR6881, MIR6882, MPI, MYO9A, NEIL1, NEO1, NPTN, NPTN-IT1, NR2E3, NRG4, ODF3L1, PARP6, PEAK1, PKM, PML, PPCDC, PSMA4, PSTPIP1, PTPN9, RCN2, REC114, RPP25, SALRNA2, SALRNA3, SCAMP2, SCAMP5, SCAPER, SEMA7A, SENP8, SH2D7, SIN3A, SKIC8, SNUPN, SNX33, STOML1, STRA6, TBC1D21, TBC1D2B, THAP10, THSD4, THSD4-AS1, THSD4-AS2, TLE3, TMEM202, TMEM202-AS1, TMEM266, TSPAN3, UACA, UBE2Q2, UBL7, UBL7-DT, ULK3 | | See cases | Pathogenic (Jun 22, 2015) | 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:
- Chr15:72921369-75535330
- GRCh38:
- Chr15:72629028-75242989
| ADPGK, ADPGK-AS1, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COX5A, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6B, HCN4, HIGD2B, INSYN1, INSYN1-AS1, ISLR, ISLR2, LINC02255, LINC02259, LMAN1L, LOC108964933, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC112272614, LOC112272615, LOC112272616, LOC116268471, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121847957, LOC125110357, LOC125138289, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC283731, LOXL1, LOXL1-AS1, MIR12135, MIR4513, MIR6881, MIR6882, MPI, NEO1, NPTN, NPTN-IT1, PML, PPCDC, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, UBL7-DT, ULK3 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr15:72640623-75277317
| ADPGK, ADPGK-AS1, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COX5A, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, HCN4, HIGD2B, INSYN1, INSYN1-AS1, ISLR, ISLR2, LINC02255, LMAN1L, LOC108964933, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC112272614, LOC112272615, LOC112272616, LOC116268471, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121847957, LOC125110357, LOC125138289, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC283731, LOXL1, LOXL1-AS1, MIR12135, MIR4513, MIR6881, MIR6882, MPI, NEO1, NPTN, NPTN-IT1, PML, PPCDC, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, UBL7-DT, ULK3 | | Schizophrenia | Likely pathogenic (Mar 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:72963970-75535330
- GRCh38:
- Chr15:72671629-75242989
| ADPGK, ADPGK-AS1, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COX5A, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, HCN4, HIGD2B, INSYN1, INSYN1-AS1, ISLR, ISLR2, LINC02255, LMAN1L, LOC108964933, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC112272614, LOC112272615, LOC112272616, LOC116268471, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121847957, LOC125110357, LOC125138289, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC283731, LOXL1, LOXL1-AS1, MIR12135, MIR4513, MIR6881, MIR6882, MPI, NEO1, NPTN, NPTN-IT1, PML, PPCDC, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, UBL7-DT, ULK3 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr15:72963970-75492144
- GRCh38:
- Chr15:72671629-75199803
| ADPGK, ADPGK-AS1, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COX5A, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, HCN4, HIGD2B, INSYN1, INSYN1-AS1, ISLR, ISLR2, LINC02255, LMAN1L, LOC108964933, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC112272614, LOC112272615, LOC112272616, LOC116268471, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121847957, LOC125110357, LOC125138289, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC283731, LOXL1, LOXL1-AS1, MIR12135, MIR4513, MIR6881, MIR6882, MPI, NEO1, NPTN, NPTN-IT1, PML, PPCDC, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, UBL7-DT, ULK3 | | See cases | Likely pathogenic (Apr 8, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr15:72963970-75954617
- GRCh38:
- Chr15:72671629-75662276
| ADPGK, ADPGK-AS1, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COMMD4, COX5A, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6C, GOLGA6D, HCN4, HIGD2B, IMP3, INSYN1, INSYN1-AS1, ISLR, ISLR2, LINC02255, LMAN1L, LOC108964933, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC116268471, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121847957, LOC121847958, LOC125110357, LOC125138289, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC283731, LOXL1, LOXL1-AS1, MAN2C1, MIR12135, MIR4513, MIR631, MIR6881, MIR6882, MPI, NEIL1, NEO1, NPTN, NPTN-IT1, PML, PPCDC, PTPN9, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, SIN3A, SNUPN, SNX33, STOML1, STRA6, TBC1D21, UBL7, UBL7-DT, ULK3 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr15:72977572-76019966
- GRCh38:
- Chr15:72685231-75727625
| LMAN1L, LOC108964933, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC116268471, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121847957, LOC121847958, LOC125110357, LOC125138289, LOC125138290, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC283731, LOXL1, LOXL1-AS1, MAN2C1, MIR12135, MIR4513, MIR631, MIR6881, MIR6882, MPI, NEIL1, NEO1, NPTN, NPTN-IT1, ODF3L1, PML, PPCDC, PTPN9, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, SIN3A, SNUPN, SNX33, STOML1, STRA6, TBC1D21, UBL7, UBL7-DT, ULK3, ADPGK, ADPGK-AS1, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6C, GOLGA6D, HCN4, HIGD2B, IMP3, INSYN1, INSYN1-AS1, ISLR, ISLR2, LINC02255 | | See cases | Pathogenic (Oct 1, 2010) | no assertion criteria provided |
| - GRCh38:
- Chr15:74071509-77878298
| MPI, NEIL1, NRG4, ODF3L1, PEAK1, PPCDC, PSTPIP1, PTPN9, RCN2, RPP25, SCAMP2, SCAMP5, SCAPER, SEMA7A, SIN3A, SNUPN, SNX33, STRA6, TMEM266, TSPAN3, UBE2Q2, UBL7, UBL7-DT, ULK3, ARID3B, C15orf39, CCDC33, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, ETFA, FAM219B, FBXO22, FBXO22-AS1, GOLGA6A, GOLGA6C, GOLGA6D, HMG20A, IMP3, ISL2, ISLR, ISLR2, LINC00597, LINC02255, LINGO1, LINGO1-AS1, LINGO1-AS2, LMAN1L, LOC101929439, LOC101929457, LOC108964933, LOC110121383, LOC110467515, LOC110467516, LOC110467517, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC116268471, LOC116268472, LOC120285840, LOC121530592, LOC121530593, LOC121530594, LOC121530595, LOC121530596, LOC121847957, LOC121847958, LOC125138289, LOC125138290, LOC125138291, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC126862183, LOC126862184, LOC283731, MAN2C1, MIR3713, MIR4313, MIR4513, MIR631, MIR6881, MIR6882 | | Schizophrenia | Likely pathogenic (Mar 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74471793
- GRCh38:
- Chr15:74179452
| STRA6 | | Syndromic Microphthalmia, Recessive | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74471839
- GRCh38:
- Chr15:74179498
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74471852
- GRCh38:
- Chr15:74179511
| STRA6 | | Matthew-Wood syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74471932
- GRCh38:
- Chr15:74179591
| STRA6 | | Matthew-Wood syndrome | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74471995
- GRCh38:
- Chr15:74179654
| STRA6 | | Syndromic Microphthalmia, Recessive | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472022
- GRCh38:
- Chr15:74179681
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472040
- GRCh38:
- Chr15:74179699
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472053
- GRCh38:
- Chr15:74179712
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472097
- GRCh38:
- Chr15:74179756
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472199
- GRCh38:
- Chr15:74179858
| STRA6 | | not provided, Matthew-Wood syndrome | Benign (Jun 19, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74472212
- GRCh38:
- Chr15:74179871
| STRA6 | | Syndromic Microphthalmia, Recessive | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472231
- GRCh38:
- Chr15:74179890
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472232
- GRCh38:
- Chr15:74179891
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472243
- GRCh38:
- Chr15:74179902
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472280
- GRCh38:
- Chr15:74179939
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472294
- GRCh38:
- Chr15:74179953
| STRA6 | | not provided, Matthew-Wood syndrome | Benign (Aug 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74472316
- GRCh38:
- Chr15:74179975
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472332
- GRCh38:
- Chr15:74179991
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472346
- GRCh38:
- Chr15:74180005
| STRA6 | | not provided, Matthew-Wood syndrome | Benign/Likely benign (Dec 23, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74472349
- GRCh38:
- Chr15:74180008
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472389
- GRCh38:
- Chr15:74180048
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472411
- GRCh38:
- Chr15:74180070
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472424
- GRCh38:
- Chr15:74180083
| STRA6 | | Matthew-Wood syndrome | Likely benign (Apr 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472433
- GRCh38:
- Chr15:74180092
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472455
- GRCh38:
- Chr15:74180114
| STRA6 | T657M, T694M, T672M, T696M, T648M | Matthew-Wood syndrome | Uncertain significance (Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74472461
- GRCh38:
- Chr15:74180120
| STRA6 | R655H, R670H, R646H, R692H, R694H | not provided | Likely pathogenic (Dec 8, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472462
- GRCh38:
- Chr15:74180121
| STRA6 | R655C, R670C, R692C, R694C, R646C | not provided | Uncertain significance (Sep 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472468
- GRCh38:
- Chr15:74180127
| STRA6 | V653I, V668I, V690I, V692I, V644I | Matthew-Wood syndrome | Uncertain significance (Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74472483
- GRCh38:
- Chr15:74180142
| STRA6 | N639H, N685H, N687H, N648H, N663H | Matthew-Wood syndrome | Uncertain significance (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472490
- GRCh38:
- Chr15:74180149
| STRA6 | | not provided | Uncertain significance (Oct 6, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472494
- GRCh38:
- Chr15:74180153
| STRA6 | T644M, T681M, T683M, T659M, T635M | Matthew-Wood syndrome | Pathogenic (Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472508
- GRCh38:
- Chr15:74180167
| STRA6 | W639*, W678*, W630*, W676*, W654* | not provided | Uncertain significance (Sep 16, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr15:74472512
- GRCh38:
- Chr15:74180171
| STRA6 | R638P, R653P, R675P, R629P, R677P | Anophthalmia-microphthalmia syndrome | Pathogenic (Jan 1, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472513
- GRCh38:
- Chr15:74180172
| STRA6 | R629C, R653C, R675C, R638C, R677C | Inborn genetic diseases | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472522
- GRCh38:
- Chr15:74180181
| STRA6 | G635S, G672S, G674S, G626S, G650S | Inborn genetic diseases, Matthew-Wood syndrome, not provided
| Benign/Likely benign (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74472554
- GRCh38:
- Chr15:74180213
| STRA6 | M615T, M639T, M661T, M624T, M663T | Matthew-Wood syndrome | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472558
- GRCh38:
- Chr15:74180217
| STRA6 | S614A, S638A, S623A, S660A, S662A | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74472716
- GRCh38:
- Chr15:74180375
| STRA6 | | not provided | Benign (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473035
- GRCh38:
- Chr15:74180694
| STRA6 | | not provided | Benign (Sep 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473073
- GRCh38:
- Chr15:74180732
| STRA6 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473111
- GRCh38:
- Chr15:74180770
| STRA6 | | Matthew-Wood syndrome | Benign/Likely benign (Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74473119
- GRCh38:
- Chr15:74180778
| STRA6 | | not provided | Uncertain significance (Mar 21, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473127
- GRCh38:
- Chr15:74180786
| STRA6 | | not provided, Matthew-Wood syndrome | Benign (Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74473146
- GRCh38:
- Chr15:74180805
| STRA6 | L597R, L621R, L606R, L643R, L645R | Inborn genetic diseases | Uncertain significance (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473160
- GRCh38:
- Chr15:74180819
| STRA6 | | Matthew-Wood syndrome | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473192
- GRCh38:
- Chr15:74180851
| STRA6 | A591T, A606T, A582T, A630T, A628T | not provided, Matthew-Wood syndrome | Benign/Likely benign (Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74473228
- GRCh38:
- Chr15:74180887
| STRA6 | P579A, P616A, P618A, P594A, P570A | Anophthalmia-microphthalmia syndrome | Pathogenic (Jan 1, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473249
- GRCh38:
- Chr15:74180908
| STRA6 | I609F, I611F, I563F, I587F, I572F | Inborn genetic diseases | Uncertain significance (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473264
- GRCh38:
- Chr15:74180923
| STRA6 | R558*, R567*, R582*, R604*, R606* | Microphthalmia | Likely pathogenic (Oct 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473269
- GRCh38:
- Chr15:74180928
| STRA6 | T565M, T580M, T604M, T556M, T602M | Inborn genetic diseases, Matthew-Wood syndrome | Uncertain significance (Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74473270
- GRCh38:
- Chr15:74180929
| STRA6 | T556A, T565A, T604A, T580A, T602A | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473271
- GRCh38:
- Chr15:74180930
| STRA6 | | Matthew-Wood syndrome | Likely benign (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473283
- GRCh38:
- Chr15:74180942
| STRA6 | | not provided, Matthew-Wood syndrome | Conflicting interpretations of pathogenicity (Jul 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:74473293
- GRCh38:
- Chr15:74180952
| STRA6 | | Matthew-Wood syndrome | Benign (Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74473302
- GRCh38:
- Chr15:74180961
| STRA6 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473371
- GRCh38:
- Chr15:74181030
| STRA6 | | not provided | Likely benign (Dec 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473391
- GRCh38:
- Chr15:74181050
| STRA6 | | not provided | Likely benign (Dec 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473642
- GRCh38:
- Chr15:74181301
| STRA6 | D560H, D597H, D551H, D575H, D599H | Matthew-Wood syndrome | Pathogenic (Nov 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr15:74473643
- GRCh38:
- Chr15:74181302
| STRA6 | | not provided | Likely benign (Oct 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473643-74473644
- GRCh38:
- Chr15:74181302-74181303
| STRA6 | D599fs, D575fs, D597fs, D551fs, D560fs | Matthew-Wood syndrome | Pathogenic (Jul 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473650
- GRCh38:
- Chr15:74181309
| STRA6 | A572V, A557V, A594V, A596V, A548V | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473652
- GRCh38:
- Chr15:74181311
| STRA6 | | Matthew-Wood syndrome | Likely benign (Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473715
- GRCh38:
- Chr15:74181374
| STRA6 | | Matthew-Wood syndrome, not specified | Benign/Likely benign (Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74473715
- GRCh38:
- Chr15:74181374
| STRA6 | | not provided | Uncertain significance (Jun 4, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473725
- GRCh38:
- Chr15:74181384
| STRA6 | R523L, R532L, R547L, R569L, R571L | Matthew-Wood syndrome | Uncertain significance (Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473726
- GRCh38:
- Chr15:74181385
| STRA6 | R523*, R532*, R547*, R569*, R571* | Matthew-Wood syndrome, not provided | Pathogenic (Jun 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74473726
- GRCh38:
- Chr15:74181385
| STRA6 | R532G, R547G, R571G, R523G, R569G | not provided | Uncertain significance (Sep 16, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr15:74473739
- GRCh38:
- Chr15:74181398
| STRA6 | M527I, M566I, M518I, M564I, M542I | not specified, not provided, Matthew-Wood syndrome
| Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74473754
- GRCh38:
- Chr15:74181413
| STRA6 | | Matthew-Wood syndrome | Conflicting interpretations of pathogenicity (Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:74473755
- GRCh38:
- Chr15:74181414
| STRA6 | V522G, V537G, V559G, V513G, V561G | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74473800
- GRCh38:
- Chr15:74181459
| STRA6 | | Matthew-Wood syndrome | Pathogenic (Mar 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr15:74474007
- GRCh38:
- Chr15:74181666
| STRA6 | | not provided | Likely benign (Jul 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74474010
- GRCh38:
- Chr15:74181669
| STRA6 | | not provided | Benign (Aug 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74474083
- GRCh38:
- Chr15:74181742
| STRA6 | | not provided | Benign (Apr 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74474302
- GRCh38:
- Chr15:74181961
| STRA6 | | not provided | Likely benign (Dec 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74474488
- GRCh38:
- Chr15:74182147
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74474502
- GRCh38:
- Chr15:74182161
| STRA6 | R498Q, R507Q, R522Q, R544Q, R546Q | Matthew-Wood syndrome | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74474503
- GRCh38:
- Chr15:74182162
| STRA6 | R546W, R498W, R507W, R522W, R544W | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74474504
- GRCh38:
- Chr15:74182163
| STRA6 | N506K, N521K, N497K, N543K, N545K | not provided | Uncertain significance (Sep 16, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr15:74474612
- GRCh38:
- Chr15:74182271
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74474614
- GRCh38:
- Chr15:74182273
| STRA6 | | Matthew-Wood syndrome | Likely benign (Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74474666
- GRCh38:
- Chr15:74182325
| STRA6 | | Matthew-Wood syndrome | Likely benign (May 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74474674
- GRCh38:
- Chr15:74182333
| STRA6 | | Syndromic Microphthalmia, Recessive, Matthew-Wood syndrome | Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:74474681-74474683
- GRCh38:
- Chr15:74182340-74182342
| STRA6 | | Matthew-Wood syndrome | Likely pathogenic (May 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74474686
- GRCh38:
- Chr15:74182345
| STRA6 | | Matthew-Wood syndrome | Benign/Likely benign (Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74474711
- GRCh38:
- Chr15:74182370
| STRA6 | L464R, L479R, L501R, L455R, L503R | Matthew-Wood syndrome, not provided | Likely benign (Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74474717
- GRCh38:
- Chr15:74182376
| STRA6 | N501fs, N462fs, N477fs, N453fs, N499fs | not provided | Pathogenic (Mar 17, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:74474725
- GRCh38:
- Chr15:74182384
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74474753
- GRCh38:
- Chr15:74182412
| STRA6 | A450D, A487D, A465D, A489D, A441D | Matthew-Wood syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:74474761
- GRCh38:
- Chr15:74182420
| STRA6 | | Matthew-Wood syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |