2108[geneid] - 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	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, LOC100129540, LOC100507472, LOC101927310, LOC101928850, LOC101928988, LOC101929439, LOC101929457, LOC101929586, LOC102723335, LOC102724034, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370890, LOC105370947, LOC105370954, LOC105370973, LOC105370980, LOC105370987, LOC105370993, LOC105370997, LOC105371006, LOC105371017, 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, 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, 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, SIN3A, SKIC8, SKOR1, SKOR1-AS1, SLC24A1, SLC28A1, SLC51B, SLCO3A1, SMAD3, 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, CIMAP1C, 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, 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, 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, CIMAP1C, CLK3, COMMD4, COX5A, CPLX3, CRABP1, CSK, CSPG4, CT62, CYP11A1, CYP1A1, CYP1A2, DNAJA4, DNAJA4-DT, EDC3, ETFA, FAM219B, FBXO22, 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, LOC105370890, LOC108964933, LOC110120861, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111562369, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC116268468, 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, 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	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, LOC105370890, LOC105370947, LOC105370954, LOC105370973, LOC105370980, LOC105370987, LOC105370993, LOC105370997, LOC105371006, LOC105371017, 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, 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, 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, SNRPA1-DT, SIN3A, SKIC8, SLC28A1, SLCO3A1, SNHG21, SNRPA1, 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, 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, CIMAP1C, 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, 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		See cases	Pathogenic (Sep 10, 2012)	no assertion criteria provided
Select item 5451834.	Single allele GRCh38: Chr15:74071509-77878298	ARID3B, C15orf39, CCDC33, CIMAP1C, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, ETFA, FAM219B, FBXO22, 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, MPI, NEIL1, NRG4, PEAK1, PPCDC, PSTPIP1, PTPN9, RCN2, RPP25, SCAMP2, SCAMP5, SCAPER, SEMA7A, SIN3A, SNUPN, SNX33, STRA6, TMEM266, TSPAN3, UBE2Q2, UBL7, UBL7-DT, ULK3		Schizophrenia	Likely pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 1479795.	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1 GRCh37: Chr15:76298495-80274759 GRCh38: Chr15:76006154-79982417	ACSBG1, ADAMTS7, ANKRD34C, ANKRD34C-AS1, BCL2A1, CHRNA3, CHRNA5, CHRNB4, CIB2, CRABP1, CTSH, DNAJA4, DNAJA4-DT, ETFA, HMG20A, HYKK, IDH3A, IREB2, ISL2, LINC00597, LINGO1, LINGO1-AS1, LINGO1-AS2, LOC100129540, LOC101929439, LOC101929457, LOC108281191, LOC112272619, LOC112272620, LOC116268472, LOC121530595, LOC121530596, LOC121847959, LOC121847960, LOC125138291, LOC125138292, LOC125138293, LOC125138294, LOC125138295, LOC126862183, LOC126862184, LOC126862185, LOC126862186, LOC126862187, LOC126862188, LOC126862189, LOC126862190, LOC91450, MINAR1, MIR184, MIR3713, MORF4L1, MTHFS, NRG4, PEAK1, PSMA4, PSTPIP1, RASGRF1, RCN2, SCAPER, SH2D7, SKIC8, ST20, ST20-AS1, ST20-MTHFS, TBC1D2B, TMED3, TMEM266, TRC-GCA5-1, TRK-CTT1-2, TSPAN3		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 3171516.	NM_000126.4(ETFA):c.*268A>G GRCh37: Chr15:76508632 GRCh38: Chr15:76216291	ETFA		not provided, Multiple acyl-CoA dehydrogenase deficiency	Benign (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 3171527.	NM_000126.4(ETFA):c.*216A>T GRCh37: Chr15:76508684 GRCh38: Chr15:76216343	ETFA		not provided, Multiple acyl-CoA dehydrogenase deficiency	Benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 3171538.	NM_000126.4(ETFA):c.*99G>A GRCh37: Chr15:76508801 GRCh38: Chr15:76216460	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 3171549.	NM_000126.4(ETFA):c.*55C>G GRCh37: Chr15:76508845 GRCh38: Chr15:76216504	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88828510.	NM_000126.4(ETFA):c.*46C>T GRCh37: Chr15:76508854 GRCh38: Chr15:76216513	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 125202411.	NM_000126.4(ETFA):c.27_30del GRCh37: Chr15:76508870-76508873 GRCh38: Chr15:76216529-76216532	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Apr 29, 2021)	no assertion criteria provided
Select item 140182112.	NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu) GRCh37: Chr15:76508901 GRCh38: Chr15:76216560	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 195032413.	NM_000126.4(ETFA):c.994A>G (p.Lys332Glu) GRCh37: Chr15:76508908 GRCh38: Chr15:76216567	ETFA	K283E, K332E	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 74271314.	NM_000126.4(ETFA):c.988T>C (p.Leu330=) GRCh37: Chr15:76508914 GRCh38: Chr15:76216573	ETFA		not provided	Likely benign (Jan 18, 2018)	criteria provided, single submitter
Select item 37993715.	NM_000126.4(ETFA):c.985A>C (p.Ile329Leu) GRCh37: Chr15:76508917 GRCh38: Chr15:76216576	ETFA	I329L, I280L	not specified	Likely benign (Jun 18, 2015)	criteria provided, single submitter
Select item 111189916.	NM_000126.4(ETFA):c.981T>G (p.Thr327=) GRCh37: Chr15:76508921 GRCh38: Chr15:76216580	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 208413817.	NM_000126.4(ETFA):c.980C>A (p.Thr327Asn) GRCh37: Chr15:76508922 GRCh38: Chr15:76216581	ETFA	T327N, T278N	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 200902418.	NM_000126.4(ETFA):c.974A>G (p.Glu325Gly) GRCh37: Chr15:76508928 GRCh38: Chr15:76216587	ETFA	E276G, E325G	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 147013519.	NM_000126.4(ETFA):c.973G>A (p.Glu325Lys) GRCh37: Chr15:76508929 GRCh38: Chr15:76216588	ETFA	E276K, E325K	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 166962420.	NM_000126.4(ETFA):c.972T>C (p.Pro324=) GRCh37: Chr15:76508930 GRCh38: Chr15:76216589	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 84979921.	NM_000126.4(ETFA):c.967G>A (p.Val323Ile) GRCh37: Chr15:76508935 GRCh38: Chr15:76216594	ETFA	V274I, V323I	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 59083222.	NM_000126.4(ETFA):c.964-1G>C GRCh37: Chr15:76508939 GRCh38: Chr15:76216598	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 7, 2017)	no assertion criteria provided
Select item 153360323.	NM_000126.4(ETFA):c.964-4G>A GRCh37: Chr15:76508942 GRCh38: Chr15:76216601	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Feb 15, 2021)	criteria provided, single submitter
Select item 108900024.	NM_000126.4(ETFA):c.964-10T>C GRCh37: Chr15:76508948 GRCh38: Chr15:76216607	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jul 30, 2020)	criteria provided, single submitter
Select item 50966525.	NM_000126.4(ETFA):c.964-20C>G GRCh37: Chr15:76508958 GRCh38: Chr15:76216617	ETFA		not specified, Multiple acyl-CoA dehydrogenase deficiency	Benign/Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127972326.	NM_000126.4(ETFA):c.964-266dup GRCh37: Chr15:76509181-76509182 GRCh38: Chr15:76216840-76216841	ETFA		not provided	Benign (Aug 6, 2019)	criteria provided, single submitter
Select item 125128027.	NM_000126.4(ETFA):c.964-266_964-264dup GRCh37: Chr15:76509181-76509182 GRCh38: Chr15:76216840-76216841	ETFA		not provided	Benign (Aug 6, 2019)	criteria provided, single submitter
Select item 124167328.	NM_000126.4(ETFA):c.964-266_964-265dup GRCh37: Chr15:76509181-76509182 GRCh38: Chr15:76216840-76216841	ETFA		not provided	Benign (Aug 10, 2019)	criteria provided, single submitter
Select item 122390429.	NM_000126.4(ETFA):c.964-266_964-263dup GRCh37: Chr15:76509181-76509182 GRCh38: Chr15:76216840-76216841	ETFA		not provided	Benign (Aug 13, 2019)	criteria provided, single submitter
Select item 121779030.	NM_000126.4(ETFA):c.964-266_964-262dup GRCh37: Chr15:76509181-76509182 GRCh38: Chr15:76216840-76216841	ETFA		not provided	Likely benign (Aug 18, 2019)	criteria provided, single submitter
Select item 128844031.	NM_000126.4(ETFA):c.963+296A>G GRCh37: Chr15:76517894 GRCh38: Chr15:76225553	ETFA		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 120269032.	NM_000126.4(ETFA):c.963+260C>T GRCh37: Chr15:76517930 GRCh38: Chr15:76225589	ETFA		not provided	Likely benign (Oct 5, 2018)	criteria provided, single submitter
Select item 119420433.	NM_000126.4(ETFA):c.963+208A>G GRCh37: Chr15:76517982 GRCh38: Chr15:76225641	ETFA		not provided	Likely benign (Jun 28, 2018)	criteria provided, single submitter
Select item 162080334.	NM_000126.4(ETFA):c.963+14G>C GRCh37: Chr15:76518176 GRCh38: Chr15:76225835	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jun 15, 2021)	criteria provided, single submitter
Select item 112298335.	NM_000126.4(ETFA):c.963+9del GRCh37: Chr15:76518181 GRCh38: Chr15:76225840	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 198058336.	NM_000126.4(ETFA):c.963+8G>A GRCh37: Chr15:76518182 GRCh38: Chr15:76225841	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 259737.	NM_000126.4(ETFA):c.963+1del GRCh37: Chr15:76518189 GRCh38: Chr15:76225848	ETFA		not specified, Multiple acyl-CoA dehydrogenase deficiency	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 207829338.	NM_000126.4(ETFA):c.960T>C (p.Phe320=) GRCh37: Chr15:76518193 GRCh38: Chr15:76225852	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 216669039.	NM_000126.4(ETFA):c.955T>C (p.Leu319=) GRCh37: Chr15:76518198 GRCh38: Chr15:76225857	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 167412140.	NM_000126.4(ETFA):c.951A>G (p.Ala317=) GRCh37: Chr15:76518202 GRCh38: Chr15:76225861	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jan 27, 2021)	criteria provided, single submitter
Select item 139643341.	NM_000126.4(ETFA):c.946G>C (p.Val316Leu) GRCh37: Chr15:76518207 GRCh38: Chr15:76225866	ETFA	V267L, V316L	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 58331742.	NM_000126.4(ETFA):c.946G>T (p.Val316Phe) GRCh37: Chr15:76518207 GRCh38: Chr15:76225866	ETFA	V316F, V267F	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 154049743.	NM_000126.4(ETFA):c.945A>C (p.Ile315=) GRCh37: Chr15:76518208 GRCh38: Chr15:76225867	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 29, 2021)	criteria provided, single submitter
Select item 161533044.	NM_000126.4(ETFA):c.942A>C (p.Gly314=) GRCh37: Chr15:76518211 GRCh38: Chr15:76225870	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (May 16, 2021)	criteria provided, single submitter
Select item 200673445.	NM_000126.4(ETFA):c.939T>C (p.Tyr313=) GRCh37: Chr15:76518214 GRCh38: Chr15:76225873	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 215763246.	NM_000126.4(ETFA):c.934G>A (p.Asp312Asn) GRCh37: Chr15:76518219 GRCh38: Chr15:76225878	ETFA	D263N, D312N	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 137892147.	NM_000126.4(ETFA):c.932C>T (p.Ala311Val) GRCh37: Chr15:76518221 GRCh38: Chr15:76225880	ETFA	A311V, A262V	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 45173748.	NM_000126.4(ETFA):c.931G>T (p.Ala311Ser) GRCh37: Chr15:76518222 GRCh38: Chr15:76225881	ETFA	A311S, A262S	not specified, Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105707749.	NM_000126.4(ETFA):c.919A>G (p.Ile307Val) GRCh37: Chr15:76518234 GRCh38: Chr15:76225893	ETFA	I258V, I307V	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 198299250.	NM_000126.4(ETFA):c.917C>T (p.Pro306Leu) GRCh37: Chr15:76518236 GRCh38: Chr15:76225895	ETFA	P306L, P257L	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 228035251.	NM_000126.4(ETFA):c.914C>T (p.Ala305Val) GRCh37: Chr15:76518239 GRCh38: Chr15:76225898	ETFA	A305V, A256V	Inborn genetic diseases	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 153392752.	NM_000126.4(ETFA):c.909A>G (p.Pro303=) GRCh37: Chr15:76518244 GRCh38: Chr15:76225903	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 18, 2021)	criteria provided, single submitter
Select item 113725553.	NM_000126.4(ETFA):c.891G>C (p.Val297=) GRCh37: Chr15:76518262 GRCh38: Chr15:76225921	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 9, 2020)	criteria provided, single submitter
Select item 91793654.	NM_000126.4(ETFA):c.884_886del (p.Thr295del) GRCh37: Chr15:76518267-76518269 GRCh38: Chr15:76225926-76225928	ETFA	T246del, T295del	Multiple acyl-CoA dehydrogenase deficiency	Likely pathogenic	no assertion criteria provided
Select item 98985455.	NM_000126.4(ETFA):c.883-3C>T GRCh37: Chr15:76518273 GRCh38: Chr15:76225932	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Oct 20, 2020)	no assertion criteria provided
Select item 167292756.	NM_000126.4(ETFA):c.883-4A>G GRCh37: Chr15:76518274 GRCh38: Chr15:76225933	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jan 19, 2021)	criteria provided, single submitter
Select item 214451057.	NM_000126.4(ETFA):c.883-5C>T GRCh37: Chr15:76518275 GRCh38: Chr15:76225934	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 108835858.	NM_000126.4(ETFA):c.883-6T>C GRCh37: Chr15:76518276 GRCh38: Chr15:76225935	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Nov 11, 2021)	criteria provided, single submitter
Select item 158256959.	NM_000126.4(ETFA):c.883-9dup GRCh37: Chr15:76518278-76518279 GRCh38: Chr15:76225937-76225938	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Nov 22, 2021)	criteria provided, single submitter
Select item 161919360.	NM_000126.4(ETFA):c.883-9A>G GRCh37: Chr15:76518279 GRCh38: Chr15:76225938	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Nov 26, 2021)	criteria provided, single submitter
Select item 115024461.	NM_000126.4(ETFA):c.883-10T>C GRCh37: Chr15:76518280 GRCh38: Chr15:76225939	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 165715262.	NM_000126.4(ETFA):c.883-14T>A GRCh37: Chr15:76518284 GRCh38: Chr15:76225943	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 189606063.	NM_000126.4(ETFA):c.883-18T>G GRCh37: Chr15:76518288 GRCh38: Chr15:76225947	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 127245664.	NM_000126.4(ETFA):c.883-76_883-75insGGTAA GRCh37: Chr15:76518345-76518346 GRCh38: Chr15:76226004-76226005	ETFA		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 124368765.	NM_000126.4(ETFA):c.883-77_883-76insGTAAG GRCh37: Chr15:76518346-76518347 GRCh38: Chr15:76226005-76226006	ETFA		not provided	Benign (Jun 23, 2018)	criteria provided, single submitter
Select item 119518766.	NM_000126.4(ETFA):c.883-269T>A GRCh37: Chr15:76518539 GRCh38: Chr15:76226198	ETFA		not provided	Likely benign (Aug 3, 2018)	criteria provided, single submitter
Select item 67376267.	NM_000126.4(ETFA):c.882+54G>T GRCh37: Chr15:76523620 GRCh38: Chr15:76231279	ETFA		not provided	Benign (Jun 16, 2018)	criteria provided, single submitter
Select item 51309368.	NM_000126.4(ETFA):c.882+20del GRCh37: Chr15:76523654 GRCh38: Chr15:76231313	ETFA		not specified	Likely benign (Nov 16, 2017)	criteria provided, single submitter
Select item 206326269.	NM_000126.4(ETFA):c.882+15G>A GRCh37: Chr15:76523659 GRCh38: Chr15:76231318	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 88517870.	NM_000126.4(ETFA):c.882+10C>T GRCh37: Chr15:76523664 GRCh38: Chr15:76231323	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Conflicting interpretations of pathogenicity (Jul 2, 2021)	criteria provided, conflicting interpretations
Select item 75832871.	NM_000126.4(ETFA):c.882+9A>G GRCh37: Chr15:76523665 GRCh38: Chr15:76231324	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Apr 16, 2018)	criteria provided, single submitter
Select item 113293272.	NM_000126.4(ETFA):c.882+8T>C GRCh37: Chr15:76523666 GRCh38: Chr15:76231325	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 164575473.	NM_000126.4(ETFA):c.882+7G>T GRCh37: Chr15:76523667 GRCh38: Chr15:76231326	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 111853674.	NM_000126.4(ETFA):c.882+7G>C GRCh37: Chr15:76523667 GRCh38: Chr15:76231326	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 26, 2019)	criteria provided, single submitter
Select item 110616275.	NM_000126.4(ETFA):c.882+7G>A GRCh37: Chr15:76523667 GRCh38: Chr15:76231326	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Mar 18, 2020)	criteria provided, single submitter
Select item 64469376.	NM_000126.4(ETFA):c.882+6T>G GRCh37: Chr15:76523668 GRCh38: Chr15:76231327	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 51361477.	NM_000126.4(ETFA):c.882+5T>C GRCh37: Chr15:76523669 GRCh38: Chr15:76231328	ETFA		not specified, Multiple acyl-CoA dehydrogenase deficiency	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 220250878.	NM_000126.4(ETFA):c.882+3A>G GRCh37: Chr15:76523671 GRCh38: Chr15:76231330	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 98985579.	NM_000126.4(ETFA):c.876C>A (p.Asp292Glu) GRCh37: Chr15:76523680 GRCh38: Chr15:76231339	ETFA	D243E, D292E	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 19, 2020)	no assertion criteria provided
Select item 57700980.	NM_000126.4(ETFA):c.871A>C (p.Lys291Gln) GRCh37: Chr15:76523685 GRCh38: Chr15:76231344	ETFA	K291Q, K242Q	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 216560381.	NM_000126.4(ETFA):c.866G>C (p.Gly289Ala) GRCh37: Chr15:76523690 GRCh38: Chr15:76231349	ETFA	G289A, G240A	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 242823982.	NM_000126.4(ETFA):c.838A>C (p.Ile280Leu) GRCh37: Chr15:76523718 GRCh38: Chr15:76231377	ETFA	I231L, I280L	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 109047883.	NM_000126.4(ETFA):c.837A>C (p.Gly279=) GRCh37: Chr15:76523719 GRCh38: Chr15:76231378	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jul 25, 2020)	criteria provided, single submitter
Select item 79618884.	NM_000126.4(ETFA):c.837A>G (p.Gly279=) GRCh37: Chr15:76523719 GRCh38: Chr15:76231378	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 192483785.	NM_000126.4(ETFA):c.826_833dup (p.Gly279fs) GRCh37: Chr15:76523722-76523723 GRCh38: Chr15:76231381-76231382	ETFA	G230fs, G279fs	Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 163501486.	NM_000126.4(ETFA):c.831T>C (p.Ala277=) GRCh37: Chr15:76523725 GRCh38: Chr15:76231384	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 20369287.	NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) GRCh37: Chr15:76523730 GRCh38: Chr15:76231389	ETFA	I276L, I227L	not provided, Multiple acyl-CoA dehydrogenase deficiency	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 156925588.	NM_000126.4(ETFA):c.822T>A (p.Leu274=) GRCh37: Chr15:76523734 GRCh38: Chr15:76231393	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jul 13, 2021)	criteria provided, single submitter
Select item 114745389.	NM_000126.4(ETFA):c.822T>C (p.Leu274=) GRCh37: Chr15:76523734 GRCh38: Chr15:76231393	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 28, 2020)	criteria provided, single submitter
Select item 196981490.	NM_000126.4(ETFA):c.819A>G (p.Glu273=) GRCh37: Chr15:76523737 GRCh38: Chr15:76231396	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 199973991.	NM_000126.4(ETFA):c.817-7A>G GRCh37: Chr15:76523746 GRCh38: Chr15:76231405	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 200502292.	NM_000126.4(ETFA):c.817-8T>G GRCh37: Chr15:76523747 GRCh38: Chr15:76231406	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 50927593.	NM_000126.4(ETFA):c.817-12C>T GRCh37: Chr15:76523751 GRCh38: Chr15:76231410	ETFA		Multiple acyl-CoA dehydrogenase deficiency, not provided	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154277194.	NM_000126.4(ETFA):c.817-16A>G GRCh37: Chr15:76523755 GRCh38: Chr15:76231414	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Apr 8, 2021)	criteria provided, single submitter
Select item 117273195.	NM_000126.4(ETFA):c.817-32A>G GRCh37: Chr15:76523771 GRCh38: Chr15:76231430	ETFA		not provided, Multiple acyl-CoA dehydrogenase deficiency	Benign (Jun 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118962496.	NM_000126.4(ETFA):c.817-85A>T GRCh37: Chr15:76523824 GRCh38: Chr15:76231483	ETFA		not provided	Likely benign (Oct 5, 2018)	criteria provided, single submitter
Select item 121296797.	NM_000126.4(ETFA):c.817-144_817-141del GRCh37: Chr15:76523880-76523883 GRCh38: Chr15:76231539-76231542	ETFA		not provided	Likely benign (Sep 26, 2018)	criteria provided, single submitter
Select item 117962298.	NM_000126.4(ETFA):c.817-301T>C GRCh37: Chr15:76524040 GRCh38: Chr15:76231699	ETFA		not provided	Likely benign (Jun 28, 2018)	criteria provided, single submitter
Select item 116998899.	NM_000126.4(ETFA):c.817-3173C>G GRCh37: Chr15:76526912 GRCh38: Chr15:76234571	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Benign (Nov 4, 2022)	criteria provided, single submitter
Select item 681621100.	NM_000126.4(ETFA):c.816+227A>G GRCh37: Chr15:76566526 GRCh38: Chr15:76274185	ETFA		not provided	Likely benign (Jun 14, 2018)	criteria provided, single submitter

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