STRA6[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1548481.	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 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
Select item 1531932.	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 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
Select item 1549523.	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 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
Select item 580784.	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3 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
Select item 5451825.	Single allele 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
Select item 1546816.	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1 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
Select item 1482727.	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1 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
Select item 574288.	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 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
Select item 1530749.	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 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
Select item 54518310.	Single allele 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
Select item 36910011.	NM_001142617.1(STRA6):c.*628G>A GRCh37: Chr15:74471793 GRCh38: Chr15:74179452	STRA6		Syndromic Microphthalmia, Recessive	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 88796112.	NM_022369.4(STRA6):c.*582T>C GRCh37: Chr15:74471839 GRCh38: Chr15:74179498	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31707913.	NM_022369.4(STRA6):c.*569T>C GRCh37: Chr15:74471852 GRCh38: Chr15:74179511	STRA6		Matthew-Wood syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31708014.	NM_022369.4(STRA6):c.*489T>C GRCh37: Chr15:74471932 GRCh38: Chr15:74179591	STRA6		Matthew-Wood syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31708115.	NM_022369.4(STRA6):c.*426G>A GRCh37: Chr15:74471995 GRCh38: Chr15:74179654	STRA6		Syndromic Microphthalmia, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31708216.	NM_022369.4(STRA6):c.*399G>A GRCh37: Chr15:74472022 GRCh38: Chr15:74179681	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31708317.	NM_022369.4(STRA6):c.*381C>T GRCh37: Chr15:74472040 GRCh38: Chr15:74179699	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88481818.	NM_022369.4(STRA6):c.*368G>C GRCh37: Chr15:74472053 GRCh38: Chr15:74179712	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31708419.	NM_022369.4(STRA6):c.*324C>T GRCh37: Chr15:74472097 GRCh38: Chr15:74179756	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31708520.	NM_022369.4(STRA6):c.*222G>A GRCh37: Chr15:74472199 GRCh38: Chr15:74179858	STRA6		not provided, Matthew-Wood syndrome	Benign (Jun 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31708621.	NM_022369.4(STRA6):c.*209G>C GRCh37: Chr15:74472212 GRCh38: Chr15:74179871	STRA6		Syndromic Microphthalmia, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 88481922.	NM_022369.4(STRA6):c.*190C>T GRCh37: Chr15:74472231 GRCh38: Chr15:74179890	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31708723.	NM_022369.4(STRA6):c.*189G>T GRCh37: Chr15:74472232 GRCh38: Chr15:74179891	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31708824.	NM_022369.4(STRA6):c.*178C>T GRCh37: Chr15:74472243 GRCh38: Chr15:74179902	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88575125.	NM_022369.4(STRA6):c.*141G>A GRCh37: Chr15:74472280 GRCh38: Chr15:74179939	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31708926.	NM_022369.4(STRA6):c.*127T>C GRCh37: Chr15:74472294 GRCh38: Chr15:74179953	STRA6		not provided, Matthew-Wood syndrome	Benign (Aug 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 88575227.	NM_022369.4(STRA6):c.*105G>A GRCh37: Chr15:74472316 GRCh38: Chr15:74179975	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31709028.	NM_022369.4(STRA6):c.*89T>C GRCh37: Chr15:74472332 GRCh38: Chr15:74179991	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31709129.	NM_022369.4(STRA6):c.*75C>A GRCh37: Chr15:74472346 GRCh38: Chr15:74180005	STRA6		not provided, Matthew-Wood syndrome	Benign/Likely benign (Dec 23, 2018)	criteria provided, multiple submitters, no conflicts
Select item 88575330.	NM_022369.4(STRA6):c.*72C>T GRCh37: Chr15:74472349 GRCh38: Chr15:74180008	STRA6		Matthew-Wood syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 31709231.	NM_022369.4(STRA6):c.*32G>T GRCh37: Chr15:74472389 GRCh38: Chr15:74180048	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88675432.	NM_022369.4(STRA6):c.*10A>C GRCh37: Chr15:74472411 GRCh38: Chr15:74180070	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 46403333.	NM_022369.4(STRA6):c.2001C>T (p.Pro667=) GRCh37: Chr15:74472424 GRCh38: Chr15:74180083	STRA6		Matthew-Wood syndrome	Likely benign (Apr 24, 2019)	criteria provided, single submitter
Select item 31709334.	NM_022369.4(STRA6):c.1992T>C (p.Gly664=) GRCh37: Chr15:74472433 GRCh38: Chr15:74180092	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31709435.	NM_022369.4(STRA6):c.1970C>T (p.Thr657Met) 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
Select item 4007936.	NM_022369.4(STRA6):c.1964G>A (p.Arg655His) GRCh37: Chr15:74472461 GRCh38: Chr15:74180120	STRA6	R655H, R670H, R646H, R692H, R694H	not provided	Likely pathogenic (Dec 8, 2015)	criteria provided, single submitter
Select item 113537.	NM_022369.4(STRA6):c.1963C>T (p.Arg655Cys) GRCh37: Chr15:74472462 GRCh38: Chr15:74180121	STRA6	R655C, R670C, R692C, R694C, R646C	not provided	Uncertain significance (Sep 1, 2016)	criteria provided, single submitter
Select item 31709538.	NM_022369.4(STRA6):c.1957G>A (p.Val653Ile) 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
Select item 95942239.	NM_022369.4(STRA6):c.1942A>C (p.Asn648His) GRCh37: Chr15:74472483 GRCh38: Chr15:74180142	STRA6	N639H, N685H, N687H, N648H, N663H	Matthew-Wood syndrome	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 49725140.	NM_022369.4(STRA6):c.1935G>A (p.Leu645=) GRCh37: Chr15:74472490 GRCh38: Chr15:74180149	STRA6		not provided	Uncertain significance (Oct 6, 2016)	criteria provided, single submitter
Select item 113641.	NM_022369.4(STRA6):c.1931C>T (p.Thr644Met) GRCh37: Chr15:74472494 GRCh38: Chr15:74180153	STRA6	T644M, T681M, T683M, T659M, T635M	Matthew-Wood syndrome	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 59131342.	NM_022369.4(STRA6):c.1917G>A (p.Trp639Ter) GRCh37: Chr15:74472508 GRCh38: Chr15:74180167	STRA6	W639, W678, W630, W676, W654*	not provided	Uncertain significance (Sep 16, 2018)	no assertion criteria provided
Select item 22196743.	NM_022369.4(STRA6):c.1913G>C (p.Arg638Pro) GRCh37: Chr15:74472512 GRCh38: Chr15:74180171	STRA6	R638P, R653P, R675P, R629P, R677P	Anophthalmia-microphthalmia syndrome	Pathogenic (Jan 1, 2013)	criteria provided, single submitter
Select item 227330244.	NM_022369.4(STRA6):c.1912C>T (p.Arg638Cys) GRCh37: Chr15:74472513 GRCh38: Chr15:74180172	STRA6	R629C, R653C, R675C, R638C, R677C	Inborn genetic diseases	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 31709645.	NM_022369.4(STRA6):c.1903G>A (p.Gly635Ser) 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
Select item 93655746.	NM_022369.4(STRA6):c.1871T>C (p.Met624Thr) GRCh37: Chr15:74472554 GRCh38: Chr15:74180213	STRA6	M615T, M639T, M661T, M624T, M663T	Matthew-Wood syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 88675547.	NM_022369.4(STRA6):c.1867T>G (p.Ser623Ala) GRCh37: Chr15:74472558 GRCh38: Chr15:74180217	STRA6	S614A, S638A, S623A, S660A, S662A	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 124305548.	NM_022369.4(STRA6):c.1841-132C>T GRCh37: Chr15:74472716 GRCh38: Chr15:74180375	STRA6		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 117444949.	NM_022369.4(STRA6):c.1840+88G>A GRCh37: Chr15:74473035 GRCh38: Chr15:74180694	STRA6		not provided	Benign (Sep 11, 2018)	criteria provided, single submitter
Select item 126546450.	NM_022369.4(STRA6):c.1840+50T>C GRCh37: Chr15:74473073 GRCh38: Chr15:74180732	STRA6		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 31709751.	NM_022369.4(STRA6):c.1840+12C>T GRCh37: Chr15:74473111 GRCh38: Chr15:74180770	STRA6		Matthew-Wood syndrome	Benign/Likely benign (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28707052.	NM_022369.4(STRA6):c.1840+4C>T GRCh37: Chr15:74473119 GRCh38: Chr15:74180778	STRA6		not provided	Uncertain significance (Mar 21, 2016)	criteria provided, single submitter
Select item 31709853.	NM_022369.4(STRA6):c.1836C>T (p.Asp612=) GRCh37: Chr15:74473127 GRCh38: Chr15:74180786	STRA6		not provided, Matthew-Wood syndrome	Benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 239529654.	NM_022369.4(STRA6):c.1817T>G (p.Leu606Arg) GRCh37: Chr15:74473146 GRCh38: Chr15:74180805	STRA6	L597R, L621R, L606R, L643R, L645R	Inborn genetic diseases	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 88802655.	NM_022369.4(STRA6):c.1803C>T (p.Ala601=) GRCh37: Chr15:74473160 GRCh38: Chr15:74180819	STRA6		Matthew-Wood syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31709956.	NM_022369.4(STRA6):c.1771G>A (p.Ala591Thr) 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
Select item 22192757.	NM_022369.4(STRA6):c.1735C>G (p.Pro579Ala) GRCh37: Chr15:74473228 GRCh38: Chr15:74180887	STRA6	P579A, P616A, P618A, P594A, P570A	Anophthalmia-microphthalmia syndrome	Pathogenic (Jan 1, 2013)	criteria provided, single submitter
Select item 229349858.	NM_022369.4(STRA6):c.1714A>T (p.Ile572Phe) GRCh37: Chr15:74473249 GRCh38: Chr15:74180908	STRA6	I609F, I611F, I563F, I587F, I572F	Inborn genetic diseases	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 171034259.	NM_022369.4(STRA6):c.1699C>T (p.Arg567Ter) GRCh37: Chr15:74473264 GRCh38: Chr15:74180923	STRA6	R558, R567, R582, R604, R606*	Microphthalmia	Likely pathogenic (Oct 15, 2022)	criteria provided, single submitter
Select item 135371860.	NM_022369.4(STRA6):c.1694C>T (p.Thr565Met) 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
Select item 88802761.	NM_022369.4(STRA6):c.1693A>G (p.Thr565Ala) GRCh37: Chr15:74473270 GRCh38: Chr15:74180929	STRA6	T556A, T565A, T604A, T580A, T602A	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 79140462.	NM_022369.4(STRA6):c.1692C>T (p.Tyr564=) GRCh37: Chr15:74473271 GRCh38: Chr15:74180930	STRA6		Matthew-Wood syndrome	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 31710063.	NM_022369.4(STRA6):c.1685-5C>G GRCh37: Chr15:74473283 GRCh38: Chr15:74180942	STRA6		not provided, Matthew-Wood syndrome	Conflicting interpretations of pathogenicity (Jul 27, 2022)	criteria provided, conflicting interpretations
Select item 88802864.	NM_022369.4(STRA6):c.1685-15G>A GRCh37: Chr15:74473293 GRCh38: Chr15:74180952	STRA6		Matthew-Wood syndrome	Benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 123903065.	NM_022369.4(STRA6):c.1685-24T>C GRCh37: Chr15:74473302 GRCh38: Chr15:74180961	STRA6		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 119862666.	NM_022369.4(STRA6):c.1685-93A>C GRCh37: Chr15:74473371 GRCh38: Chr15:74181030	STRA6		not provided	Likely benign (Dec 9, 2018)	criteria provided, single submitter
Select item 119783367.	NM_022369.4(STRA6):c.1685-113T>A GRCh37: Chr15:74473391 GRCh38: Chr15:74181050	STRA6		not provided	Likely benign (Dec 9, 2018)	criteria provided, single submitter
Select item 4007868.	NM_022369.4(STRA6):c.1678G>C (p.Asp560His) GRCh37: Chr15:74473642 GRCh38: Chr15:74181301	STRA6	D560H, D597H, D551H, D575H, D599H	Matthew-Wood syndrome	Pathogenic (Nov 1, 2009)	no assertion criteria provided
Select item 75588569.	NM_022369.4(STRA6):c.1677C>T (p.Leu559=) GRCh37: Chr15:74473643 GRCh38: Chr15:74181302	STRA6		not provided	Likely benign (Oct 10, 2018)	criteria provided, single submitter
Select item 57284170.	NM_022369.4(STRA6):c.1676dup (p.Asp560fs) 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
Select item 88802971.	NM_022369.4(STRA6):c.1670C>T (p.Ala557Val) GRCh37: Chr15:74473650 GRCh38: Chr15:74181309	STRA6	A572V, A557V, A594V, A596V, A548V	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 78311172.	NM_022369.4(STRA6):c.1668C>T (p.Ala556=) GRCh37: Chr15:74473652 GRCh38: Chr15:74181311	STRA6		Matthew-Wood syndrome	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 59648773.	NM_022369.4(STRA6):c.1605C>A (p.Leu535=) GRCh37: Chr15:74473715 GRCh38: Chr15:74181374	STRA6		Matthew-Wood syndrome, not specified	Benign/Likely benign (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19478574.	NM_022369.4(STRA6):c.1605C>T (p.Leu535=) GRCh37: Chr15:74473715 GRCh38: Chr15:74181374	STRA6		not provided	Uncertain significance (Jun 4, 2015)	criteria provided, single submitter
Select item 167922175.	NM_022369.4(STRA6):c.1595G>T (p.Arg532Leu) GRCh37: Chr15:74473725 GRCh38: Chr15:74181384	STRA6	R523L, R532L, R547L, R569L, R571L	Matthew-Wood syndrome	Uncertain significance (Aug 1, 2021)	criteria provided, single submitter
Select item 133472176.	NM_022369.4(STRA6):c.1594C>T (p.Arg532Ter) 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
Select item 59196577.	NM_022369.4(STRA6):c.1594C>G (p.Arg532Gly) GRCh37: Chr15:74473726 GRCh38: Chr15:74181385	STRA6	R532G, R547G, R571G, R523G, R569G	not provided	Uncertain significance (Sep 16, 2018)	no assertion criteria provided
Select item 26157878.	NM_022369.4(STRA6):c.1581G>A (p.Met527Ile) 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
Select item 31710179.	NM_022369.4(STRA6):c.1566G>T (p.Val522=) GRCh37: Chr15:74473754 GRCh38: Chr15:74181413	STRA6		Matthew-Wood syndrome	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 88489980.	NM_022369.4(STRA6):c.1565T>G (p.Val522Gly) GRCh37: Chr15:74473755 GRCh38: Chr15:74181414	STRA6	V522G, V537G, V559G, V513G, V561G	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8876481.	NM_022369.4(STRA6):c.1521-1G>A GRCh37: Chr15:74473800 GRCh38: Chr15:74181459	STRA6		Matthew-Wood syndrome	Pathogenic (Mar 1, 2013)	no assertion criteria provided
Select item 170718982.	NM_022369.4(STRA6):c.1521-208del GRCh37: Chr15:74474007 GRCh38: Chr15:74181666	STRA6		not provided	Likely benign (Jul 20, 2020)	criteria provided, single submitter
Select item 122457383.	NM_022369.4(STRA6):c.1521-211T>G GRCh37: Chr15:74474010 GRCh38: Chr15:74181669	STRA6		not provided	Benign (Aug 14, 2018)	criteria provided, single submitter
Select item 128613684.	NM_022369.4(STRA6):c.1521-284A>G GRCh37: Chr15:74474083 GRCh38: Chr15:74181742	STRA6		not provided	Benign (Apr 9, 2019)	criteria provided, single submitter
Select item 119648485.	NM_022369.4(STRA6):c.1520+200G>A GRCh37: Chr15:74474302 GRCh38: Chr15:74181961	STRA6		not provided	Likely benign (Dec 23, 2018)	criteria provided, single submitter
Select item 88490086.	NM_022369.4(STRA6):c.1520+14T>C GRCh37: Chr15:74474488 GRCh38: Chr15:74182147	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 100628987.	NM_022369.4(STRA6):c.1520G>A (p.Arg507Gln) GRCh37: Chr15:74474502 GRCh38: Chr15:74182161	STRA6	R498Q, R507Q, R522Q, R544Q, R546Q	Matthew-Wood syndrome	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 88490188.	NM_022369.4(STRA6):c.1519C>T (p.Arg507Trp) GRCh37: Chr15:74474503 GRCh38: Chr15:74182162	STRA6	R546W, R498W, R507W, R522W, R544W	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 59186289.	NM_022369.4(STRA6):c.1518C>A (p.Asn506Lys) GRCh37: Chr15:74474504 GRCh38: Chr15:74182163	STRA6	N506K, N521K, N497K, N543K, N545K	not provided	Uncertain significance (Sep 16, 2018)	no assertion criteria provided
Select item 93491490.	NM_022369.4(STRA6):c.1419-9C>A GRCh37: Chr15:74474612 GRCh38: Chr15:74182271	STRA6		Matthew-Wood syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 159688091.	NM_022369.4(STRA6):c.1419-11C>T GRCh37: Chr15:74474614 GRCh38: Chr15:74182273	STRA6		Matthew-Wood syndrome	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 162589192.	NM_022369.4(STRA6):c.1418+18T>G GRCh37: Chr15:74474666 GRCh38: Chr15:74182325	STRA6		Matthew-Wood syndrome	Likely benign (May 18, 2021)	criteria provided, single submitter
Select item 31710293.	NM_022369.4(STRA6):c.1418+10del GRCh37: Chr15:74474674 GRCh38: Chr15:74182333	STRA6		Syndromic Microphthalmia, Recessive, Matthew-Wood syndrome	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 95102794.	NM_022369.4(STRA6):c.1418+1_1418+3del GRCh37: Chr15:74474681-74474683 GRCh38: Chr15:74182340-74182342	STRA6		Matthew-Wood syndrome	Likely pathogenic (May 3, 2019)	criteria provided, single submitter
Select item 31710395.	NM_022369.4(STRA6):c.1416G>A (p.Ser472=) GRCh37: Chr15:74474686 GRCh38: Chr15:74182345	STRA6		Matthew-Wood syndrome	Benign/Likely benign (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46403196.	NM_022369.4(STRA6):c.1391T>G (p.Leu464Arg) 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
Select item 19456097.	NM_022369.4(STRA6):c.1385del (p.Asn462fs) GRCh37: Chr15:74474717 GRCh38: Chr15:74182376	STRA6	N501fs, N462fs, N477fs, N453fs, N499fs	not provided	Pathogenic (Mar 17, 2016)	criteria provided, multiple submitters, no conflicts
Select item 88490298.	NM_022369.4(STRA6):c.1377T>C (p.His459=) GRCh37: Chr15:74474725 GRCh38: Chr15:74182384	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31710499.	NM_022369.4(STRA6):c.1349C>A (p.Ala450Asp) GRCh37: Chr15:74474753 GRCh38: Chr15:74182412	STRA6	A450D, A487D, A465D, A489D, A441D	Matthew-Wood syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 884903100.	NM_022369.4(STRA6):c.1341G>A (p.Thr447=) GRCh37: Chr15:74474761 GRCh38: Chr15:74182420	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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