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Items: 1 to 100 of 141

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr15:60120659-102461201
GRCh38:
Chr15:59828460-101920998
AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, ADPGK-AS1, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANKDD1A, ANKRD34C, ANKRD34C-AS1, ANP32A, ANP32A-IT1, ANPEP, ANXA2, AP3B2, AP3S2, APH1B, ARID3B, ARIH1, ARNT2, ARNT2-DT, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BBS4, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf39, C15orf40, C15orf61, C2CD4A, C2CD4B, CA12, CALML4, CARMAL, CCDC33, CD276, CELF6, CEMIP, CERS3, CERS3-AS1, CFAP161, CHASERR, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIAO2A, CIB1, CIB2, CILP, CLK3, CLN6, CLPX, COMMD4, CORO2B, COX5A, CPEB1, CPEB1-AS1, CPLX3, CRABP1, CRAT37, CRTC3, CRTC3-AS1, CSK, CSNK1G1, CSPG4, CT62, CTSH, CTXND1, CYP11A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DIS3L-AS1, DNAJA4, DNAJA4-DT, DPP8, DRAIC, EDC3, EFL1, ETFA, EWSAT1, FAH, FAM174B, FAM219B, FANCI, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FES, FOXB1, FSD2, FURIN, GCAWKR, GDPGP1, GLCE, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L10, GOLGA6L4, GOLGA6L9, GRAMD2A, HACD3, HAPLN3, HCN4, HDDC3, HDGFL3, HERC1, HEXA, HEXA-AS1, HIGD2B, HMG20A, HOMER2, HYKK, ICE2, IDH2, IDH2-DT, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INSYN1, INSYN1-AS1, INTS14, IQCH, IQCH-AS1, IQGAP1, IRAIN, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, KBTBD13, KIF23, KIF23-AS1, KIF7, KLHL25, LACTB, LARP6, LCTL, LETR1, LINC00052, LINC00593, LINC00597, LINC00923, LINC00924, LINC00927, LINC00928, LINC00930, LINC00933, LINC01169, LINC01418, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02204, LINC02205, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02349, LINC02351, LINC02568, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100128979, LOC100129540, LOC100507472, LOC101927310, LOC101928988, LOC101929439, LOC101929457, LOC101929586, LOC102723335, LOC102724034, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC107984784, LOC107988046, LOC107992387, LOC108251791, LOC108281191, LOC108964933, LOC110120860, LOC110120861, LOC110120917, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121491, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111365216, LOC111413015, LOC111413032, LOC111413043, LOC111562369, LOC111718493, LOC111822949, LOC112272574, LOC112272602, LOC112272603, LOC112272604, LOC112272605, LOC112272606, LOC112272607, LOC112272608, LOC112272609, LOC112272610, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC112272621, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC113939945, LOC113939946, LOC113939947, LOC114827858, LOC116268467, LOC116268468, LOC116268469, LOC116268470, LOC116268471, LOC116268472, LOC116268473, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC120285840, LOC121530585, LOC121530586, LOC121530587, LOC121530588, LOC121530589, LOC121530590, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121530595, LOC121530596, LOC121530597, LOC121530598, LOC121530599, LOC121530600, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847953, LOC121847954, LOC121847955, LOC121847956, LOC121847957, LOC121847958, LOC121847959, LOC121847960, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125078089, LOC125078090, LOC125078091, LOC125078093, LOC125078094, LOC125078095, LOC125078096, LOC125078097, LOC125078098, LOC125078099, LOC125078100, LOC125078101, LOC125078102, LOC125078103, LOC125078104, LOC125110343, LOC125110344, LOC125110345, LOC125110346, LOC125110347, LOC125110348, LOC125110349, LOC125110350, LOC125110351, LOC125110352, LOC125110353, LOC125110354, LOC125110355, LOC125110356, LOC125110357, LOC125138289, LOC125138290, LOC125138291, LOC125138292, LOC125138293, LOC125138294, LOC125138295, LOC125138296, LOC125138297, LOC125138298, LOC125138299, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862143, LOC126862144, LOC126862145, LOC126862146, LOC126862147, LOC126862148, LOC126862149, LOC126862150, LOC126862151, LOC126862152, LOC126862153, LOC126862154, LOC126862155, LOC126862156, LOC126862157, LOC126862158, LOC126862159, LOC126862160, LOC126862161, LOC126862162, LOC126862163, LOC126862164, LOC126862165, LOC126862166, LOC126862167, LOC126862168, LOC126862169, LOC126862170, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC126862183, LOC126862184, LOC126862185, LOC126862186, LOC126862187, LOC126862188, LOC126862189, LOC126862190, LOC126862191, LOC126862192, LOC126862193, LOC126862194, LOC126862195, LOC126862196, LOC126862197, LOC126862198, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LOC128071545, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC28, LRRC49, LRRK1, LUNAR1, LYSMD4, MAN2A2, MAN2C1, MAP2K1, MAP2K5, MCTP2, MEF2A, MEGF11, MESD, MESP1, MESP2, MEX3B, MFGE8, MGC15885, MINAR1, MIR11181, MIR1179, MIR12135, MIR1272, MIR1276, MIR1469, MIR184, MIR190A, MIR3174, MIR3175, MIR3529, MIR3713, MIR422A, MIR4311, MIR4312, MIR4313, MIR4511, MIR4512, MIR4513, MIR4514, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR549A, MIR5572, MIR6085, MIR629, MIR630, MIR631, MIR6766, MIR6881, MIR6882, MIR7-2, MIR7706, MIR8067, MIR9-3, MIR9-3HG, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MYO9A, NEIL1, NEO1, NGRN, NMB, NOX5, NPTN, NPTN-IT1, NR2E3, NR2F2, NR2F2-AS1, NRG4, NTRK3, NTRK3-AS1, OAZ2, ODF3L1, OR4F15, OR4F6, PAQR5, PAQR5-DT, PARP16, PARP6, PCAT29, PCLAF, PCSK6, PCSK6-AS1, PDCD7, PDE8A, PEAK1, PEX11A, PGPEP1L, PIAS1, PIF1, PIRC76, PKM, PLEKHO2, PLIN1, PML, POLG, POLGARF, PPCDC, PPIB, PRC1, PRC1-AS1, PSMA4, PSTPIP1, PTPN9, RAB11A, RAB8B, RAMAC, RASGRF1, RASL12, RBPMS2, RCCD1, RCCD1-AS1, RCN2, REC114, RGMA, RHCG, RLBP1, RNU5A-1, RNU5B-1, RNU6-1, RORA, RORA-AS1, RORA-AS2, RPL4, RPLP1, RPP25, RPS17, RPS27L, SALRNA2, SALRNA3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA14, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SENP8, SH2D7, SH3GL3, SLC51B, SIN3A, SKIC8, SKOR1, SKOR1-AS1, SLC24A1, SLC28A1, SLCO3A1, SMAD3, SMAD3-DT, SMAD6, SMASR, SNAPC5, SNHG21, SNORA24B, SNORD13E, SNORD16, SNORD18A, SNORD18B, SNORD18C, SNRPA1, SNRPA1-DT, SNUPN, SNX1, SNX22, SNX33, SPATA41, SPATA8, SPATA8-AS1, SPESP1, SPG21, ST20, ST20-AS1, ST20-MTHFS, ST8SIA2, STARD5, STOML1, STRA6, SV2B, SYNM, SYNM-AS1, TARS3, TBC1D21, TBC1D2B, THAP10, THSD4, THSD4-AS1, THSD4-AS2, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMC3-AS1, TMED3, TMEM202, TMEM202-AS1, TMEM266, TPM1, TPM1-AS, TRC-GCA5-1, TRIP4, TRK-CTT1-2, TRQ-CTG1-4, TRR-TCG1-1, TSPAN3, TTC23, TTLL13, UACA, UBAP1L, UBE2Q2, UBL7, UBL7-DT, ULK3, UNC45A, USP3, USP3-AS1, VPS13C, VPS13C-DT, VPS33B, VPS33B-DT, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF609, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2, ZWILCH
See casesPathogenic
(Oct 24, 2012)		no assertion criteria provided
2.
GRCh37:
Chr15:72447290-102461201
GRCh38:
Chr15:72154949-101920998
ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, ADPGK-AS1, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANKRD34C, ANKRD34C-AS1, ANPEP, AP3B2, AP3S2, ARID3B, ARIH1, ARNT2, ARNT2-DT, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BBS4, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf39, C15orf40, CARMAL, CCDC33, CD276, CELF6, CEMIP, CERS3, CERS3-AS1, CFAP161, CHASERR, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIB1, CIB2, CLK3, COMMD4, COX5A, CPEB1, CPEB1-AS1, CPLX3, CRABP1, CRAT37, CRTC3, CRTC3-AS1, CSK, CSPG4, CTSH, CTXND1, CYP11A1, CYP1A1, CYP1A2, DET1, DNAJA4, DNAJA4-DT, EDC3, EFL1, ETFA, FAH, FAM174B, FAM219B, FANCI, FBXO22, FBXO22-AS1, FES, FSD2, FURIN, GCAWKR, GDPGP1, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L10, GOLGA6L4, GOLGA6L9, GRAMD2A, HAPLN3, HCN4, HDDC3, HDGFL3, HEXA, HEXA-AS1, HIGD2B, HMG20A, HOMER2, HYKK, IDH2, IDH2-DT, IDH3A, IGF1R, IL16, IMP3, INSYN1, INSYN1-AS1, IQGAP1, IRAIN, IREB2, ISG20, ISL2, ISLR, ISLR2, KIF7, KLHL25, LETR1, LINC00052, LINC00597, LINC00923, LINC00924, LINC00927, LINC00928, LINC00930, LINC00933, LINC01418, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02351, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100129540, LOC100507472, LOC101927310, LOC101929439, LOC101929457, LOC101929586, LOC102723335, LOC102724034, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC108251791, LOC108281191, LOC108964933, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111413032, LOC111718493, LOC111822949, LOC112272574, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC112272621, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC113939947, LOC114827858, LOC116268468, LOC116268469, LOC116268470, LOC116268471, LOC116268472, LOC116268473, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121530595, LOC121530596, LOC121530597, LOC121530598, LOC121530599, LOC121530600, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847956, LOC121847957, LOC121847958, LOC121847959, LOC121847960, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125110357, LOC125138289, LOC125138290, LOC125138291, LOC125138292, LOC125138293, LOC125138294, LOC125138295, LOC125138296, LOC125138297, LOC125138298, LOC125138299, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC126862183, LOC126862184, LOC126862185, LOC126862186, LOC126862187, LOC126862188, LOC126862189, LOC126862190, LOC126862191, LOC126862192, LOC126862193, LOC126862194, LOC126862195, LOC126862196, LOC126862197, LOC126862198, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LOC128071545, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MAN2C1, MCTP2, MEF2A, MESD, MESP1, MESP2, MEX3B, MFGE8, MINAR1, MIR11181, MIR1179, MIR12135, MIR1276, MIR1469, MIR184, MIR3174, MIR3175, MIR3529, MIR3713, MIR4313, MIR4513, MIR4514, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR549A, MIR5572, MIR630, MIR631, MIR6766, MIR6881, MIR6882, MIR7-2, MIR7706, MIR9-3, MIR9-3HG, MORF4L1, MPI, MRPL46, MRPS11, MTHFS, NEIL1, NEO1, NGRN, NMB, NPTN, NPTN-IT1, NR2F2, NR2F2-AS1, NRG4, NTRK3, NTRK3-AS1, ODF3L1, OR4F15, OR4F6, PARP6, PCSK6, PCSK6-AS1, PDE8A, PEAK1, PEX11A, PGPEP1L, PIRC76, PKM, PLIN1, PML, POLG, POLGARF, PPCDC, PRC1, PRC1-AS1, PSMA4, PSTPIP1, PTPN9, RAMAC, RASGRF1, RCCD1, RCCD1-AS1, RCN2, REC114, RGMA, RHCG, RLBP1, RPP25, RPS17, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SH2D7, SH3GL3, SIN3A, SKIC8, SLC28A1, SLCO3A1, SNHG21, SNRPA1, SNRPA1-DT, SNUPN, SNX33, SPATA41, SPATA8, SPATA8-AS1, ST20, ST20-AS1, ST20-MTHFS, ST8SIA2, STARD5, STOML1, STRA6, SV2B, SYNM, SYNM-AS1, TARS3, TBC1D21, TBC1D2B, TICRR, TLNRD1, TM2D3, TM6SF1, TMC3, TMC3-AS1, TMED3, TMEM202, TMEM202-AS1, TMEM266, TRC-GCA5-1, TRK-CTT1-2, TRR-TCG1-1, TSPAN3, TTC23, TTLL13, UBE2Q2, UBL7, UBL7-DT, ULK3, UNC45A, VPS33B, VPS33B-DT, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2
See casesPathogenic
(Sep 10, 2012)		no assertion criteria provided
3.
GRCh37:
Chr15:83528428-102351195
GRCh38:
Chr15:82859676-101810992
ABHD2, ACAN, ADAMTS17, ADAMTSL3, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, BNC1, BTBD1, C15orf32, C15orf40, CARMAL, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, DET1, FAM174B, FANCI, FES, FURIN, GCAWKR, GDPGP1, GOLGA6L4, HAPLN3, HDDC3, HDGFL3, HOMER2, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, ISG20, KIF7, KLHL25, LETR1, LINC00052, LINC00923, LINC00924, LINC00928, LINC00930, LINC00933, LINC01579, LINC01580, LINC01581, LINC01582, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINC02883, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111718493, LOC111822949, LOC112272574, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC114827858, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530600, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125138299, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR11181, MIR1179, MIR1276, MIR1469, MIR3174, MIR3175, MIR3529, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR6766, MIR7-2, MIR7706, MIR9-3, MIR9-3HG, MRPL46, MRPS11, NGRN, NMB, NR2F2, NR2F2-AS1, NTRK3, NTRK3-AS1, OR4F6, PCSK6, PCSK6-AS1, PDE8A, PEX11A, PGPEP1L, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RAMAC, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SEC11A, SELENOS, SEMA4B, SH3GL3, SLC28A1, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TICRR, TM2D3, TM6SF1, TRR-TCG1-1, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR73, WDR93, ZNF592, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2
See casesPathogenic
(Oct 14, 2010)		no assertion criteria provided
4.
GRCh37:
Chr15:84380129-102383473
GRCh38:
Chr15:83711377-101843270
ABHD2, ACAN, ADAMTS17, ADAMTSL3, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CARMAL, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, DET1, FAM174B, FANCI, FES, FURIN, GCAWKR, GDPGP1, GOLGA6L4, HAPLN3, HDDC3, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, ISG20, KIF7, KLHL25, LETR1, LINC00052, LINC00923, LINC00924, LINC00928, LINC00930, LINC00933, LINC01579, LINC01580, LINC01581, LINC01582, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINC02883, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111718493, LOC111822949, LOC112272574, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC114827858, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR11181, MIR1179, MIR1276, MIR1469, MIR3174, MIR3175, MIR3529, MIR4714, MIR5009, MIR5094, MIR548AP, MIR6766, MIR7-2, MIR7706, MIR9-3, MIR9-3HG, MRPL46, MRPS11, NGRN, NMB, NR2F2, NR2F2-AS1, NTRK3, NTRK3-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PDE8A, PEX11A, PGPEP1L, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SEC11A, SELENOS, SEMA4B, SLC28A1, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TICRR, TM2D3, TRR-TCG1-1, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR73, WDR93, ZNF592, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2
See casesPathogenic
(Oct 19, 2010)		no assertion criteria provided
5.
GRCh37:
Chr15:84837905-102445132
GRCh38:
Chr15:84169153-101904929
ABHD2, ACAN, ADAMTS17, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CARMAL, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, DET1, FAM174B, FANCI, FES, FURIN, GCAWKR, GDPGP1, GOLGA6L4, HAPLN3, HDDC3, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, ISG20, KIF7, KLHL25, LETR1, LINC00052, LINC00923, LINC00924, LINC00928, LINC00930, LINC00933, LINC01579, LINC01580, LINC01581, LINC01582, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINC02883, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111718493, LOC111822949, LOC112272574, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC114827858, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR11181, MIR1179, MIR1276, MIR1469, MIR3174, MIR3175, MIR3529, MIR4714, MIR5009, MIR5094, MIR548AP, MIR6766, MIR7-2, MIR7706, MIR9-3, MIR9-3HG, MRPL46, MRPS11, NGRN, NMB, NR2F2, NR2F2-AS1, NTRK3, NTRK3-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PDE8A, PEX11A, PGPEP1L, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SEC11A, SELENOS, SEMA4B, SLC28A1, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TICRR, TM2D3, TRR-TCG1-1, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR73, WDR93, ZNF592, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
6.
GRCh37:
Chr15:85940770-102429112
GRCh38:
Chr15:85397539-101888909
LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC114827858, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR11181, MIR1179, MIR1276, MIR1469, MIR3174, MIR3175, MIR3529, MIR4714, MIR5009, MIR5094, MIR548AP, MIR6766, MIR7-2, MIR9-3, MIR9-3HG, MRPL46, MRPS11, NGRN, NR2F2, NR2F2-AS1, NTRK3, NTRK3-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PEX11A, PGPEP1L, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SELENOS, SEMA4B, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TICRR, TM2D3, TRR-TCG1-1, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR93, ZNF710, ZNF710-AS1, ZNF774, ABHD2, ACAN, ADAMTS17, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CARMAL, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, DET1, FAM174B, FANCI, FES, FURIN, GCAWKR, GDPGP1, HAPLN3, HDDC3, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, ISG20, KIF7, KLHL25, LETR1, LINC00052, LINC00923, LINC00924, LINC00928, LINC00930, LINC01579, LINC01580, LINC01581, LINC01582, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINC02883, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC102724452, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111822949, LOC112272574, LOC112272622, LOC112272623, LOC112296173, LOC112296174
See casesPathogenic
(Jul 16, 2013)		no assertion criteria provided
7.
GRCh37:
Chr15:86369896-102461201
GRCh38:
Chr15:85826665-101920998
LINC01579, LINC01580, LINC01581, LINC01582, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC102724452, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111822949, LOC112272574, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC114827858, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR11181, MIR1179, MIR1469, MIR3174, MIR3175, MIR3529, MIR4714, MIR5009, MIR5094, MIR6766, MIR7-2, MIR9-3, MIR9-3HG, MRPL46, MRPS11, NGRN, NR2F2, NR2F2-AS1, NTRK3, NTRK3-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PEX11A, PGPEP1L, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SELENOS, SEMA4B, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TICRR, TM2D3, TRR-TCG1-1, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR93, ZNF710, ZNF710-AS1, ZNF774, ABHD2, ACAN, ADAMTS17, AEN, AGBL1, AGBL1-AS1, ALDH1A3, ALDH1A3-AS1, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CARMAL, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, DET1, FAM174B, FANCI, FES, FURIN, GCAWKR, GDPGP1, HAPLN3, HDDC3, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, ISG20, KIF7, LETR1, LINC00052, LINC00923, LINC00924, LINC00928, LINC00930
See casesPathogenic
(Mar 21, 2011)		no assertion criteria provided
8.
GRCh37:
Chr15:88447966-102383473
GRCh38:
Chr15:87904735-101843270
ABHD2, ACAN, ADAMTS17, AEN, ALDH1A3, ALDH1A3-AS1, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CARMAL, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, DET1, FAM174B, FANCI, FES, FURIN, GCAWKR, GDPGP1, HAPLN3, HDDC3, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, ISG20, KIF7, LETR1, LINC00923, LINC00924, LINC00928, LINC00930, LINC01579, LINC01580, LINC01581, LINC01582, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC104613533, LOC105369212, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111822949, LOC112272574, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC114827858, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR11181, MIR1179, MIR1469, MIR3174, MIR3175, MIR3529, MIR4714, MIR5009, MIR5094, MIR6766, MIR7-2, MIR9-3, MIR9-3HG, MRPL46, MRPS11, NGRN, NR2F2, NR2F2-AS1, NTRK3, NTRK3-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PEX11A, PGPEP1L, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SELENOS, SEMA4B, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TICRR, TM2D3, TRR-TCG1-1, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR93, ZNF710, ZNF710-AS1, ZNF774
See casesPathogenic
(Jan 24, 2011)		no assertion criteria provided
9.
GRCh37:
Chr15:89219806-98907972
GRCh38:
Chr15:88676575-98364743
ABHD2, ACAN, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, BLM, C15orf32, CARMAL, CHASERR, CHD2, CIB1, CRAT37, CRTC3, CRTC3-AS1, FAM174B, FANCI, FES, FURIN, GDPGP1, HAPLN3, HDDC3, IDH2, IDH2-DT, IQGAP1, KIF7, LETR1, LINC00923, LINC00924, LINC00928, LINC00930, LINC01579, LINC01580, LINC01581, LINC01582, LINC01585, LINC02207, LINC02251, LINC02253, LINC02254, LINC02351, LOC101927310, LOC104613533, LOC105369212, LOC105370980, LOC105371031, LOC108251791, LOC110121345, LOC110121430, LOC111413032, LOC111822949, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847961, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, MAN2A2, MCTP2, MESP1, MESP2, MFGE8, MIR1469, MIR3174, MIR3175, MIR5009, MIR5094, MIR6766, MIR9-3, MIR9-3HG, NGRN, NR2F2, NR2F2-AS1, PEX11A, PIRC76, PLIN1, POLG, POLGARF, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, RHCG, RLBP1, SEMA4B, SLCO3A1, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, TICRR, TRR-TCG1-1, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR93, ZNF710, ZNF710-AS1, ZNF774
See casesPathogenic
(Dec 10, 2012)		no assertion criteria provided
10.
GRCh37:
Chr15:90222468-102519161
GRCh38:
Chr15:89679237-101978958
ADAMTS17, ALDH1A3, ALDH1A3-AS1, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CERS3, CERS3-AS1, CHASERR, CHD2, CHSY1, CIB1, CRAT37, CRTC3, CRTC3-AS1, FAM138E, FAM174B, FES, FURIN, GCAWKR, GDPGP1, HDDC3, IDH2, IDH2-DT, IGF1R, IQGAP1, IRAIN, LETR1, LINC00923, LINC00924, LINC00930, LINC01579, LINC01580, LINC01581, LINC01582, LINC01585, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC104613533, LOC105369212, LOC105370980, LOC108251791, LOC110121345, LOC110121430, LOC110121464, LOC111413032, LOC111822949, LOC112272574, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC116268479, LOC117204000, LOC117204001, LOC121530604, LOC121530605, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MIR1302-10, MIR1469, MIR3174, MIR3175, MIR4714, MIR5009, MIR5094, MIR6859-3, NGRN, NR2F2, NR2F2-AS1, OR4F15, OR4F4, OR4F6, PCSK6, PCSK6-AS1, PEX11A, PGPEP1L, PIRC76, PLIN1, PRC1, PRC1-AS1, RCCD1, RCCD1-AS1, RGMA, SELENOS, SEMA4B, SLCO3A1, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, ST8SIA2, SV2B, SYNM, SYNM-AS1, TARS3, TM2D3, TTC23, TTLL13, UNC45A, VPS33B, VPS33B-DT, WDR93, ZNF710, ZNF710-AS1, ZNF774
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
11.
GRCh37:
Chr15:93584754-102481529
GRCh38:
Chr15:93041524-101941326
ADAMTS17, ALDH1A3, ALDH1A3-AS1, ARRDC4, ASB7, CERS3, CERS3-AS1, CHSY1, GCAWKR, IGF1R, IRAIN, LETR1, LINC00923, LINC00924, LINC01579, LINC01580, LINC01581, LINC01582, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC105369212, LOC105370980, LOC110121345, LOC110121430, LOC110121464, LOC112272574, LOC112296177, LOC112296178, LOC113939942, LOC116268479, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MCTP2, MEF2A, MIR1469, MIR4714, NR2F2, NR2F2-AS1, OR4F15, OR4F4, OR4F6, PCSK6, PCSK6-AS1, PGPEP1L, RGMA, SELENOS, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, SYNM, SYNM-AS1, TARS3, TM2D3, TTC23
See casesPathogenic
(Apr 30, 2011)		no assertion criteria provided
12.
GRCh37:
Chr15:93741946-102383473
GRCh38:
Chr15:93198717-101843270
ADAMTS17, ALDH1A3, ALDH1A3-AS1, ARRDC4, ASB7, CERS3, CERS3-AS1, CHSY1, GCAWKR, IGF1R, IRAIN, LETR1, LINC00923, LINC00924, LINC01579, LINC01580, LINC01581, LINC01582, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC105369212, LOC105370980, LOC110121345, LOC110121430, LOC110121464, LOC112272574, LOC112296177, LOC112296178, LOC113939942, LOC116268479, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MCTP2, MEF2A, MIR1469, MIR4714, NR2F2, NR2F2-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PGPEP1L, SELENOS, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, SYNM, SYNM-AS1, TARS3, TM2D3, TTC23
See casesPathogenic
(May 7, 2013)		no assertion criteria provided
13.
GRCh37:
Chr15:94348261-101867081
GRCh38:
Chr15:93805032-101326876
ADAMTS17, ALDH1A3, ALDH1A3-AS1, ARRDC4, ASB7, CERS3, CERS3-AS1, CHSY1, GCAWKR, IGF1R, IRAIN, LETR1, LINC00923, LINC00924, LINC01579, LINC01580, LINC01581, LINC01582, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC105369212, LOC110121345, LOC110121430, LOC110121464, LOC112272574, LOC112296177, LOC112296178, LOC113939942, LOC116268479, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, 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, LRRC28, LRRK1, LUNAR1, LYSMD4, MCTP2, MEF2A, MIR1469, MIR4714, NR2F2, NR2F2-AS1, PCSK6, PGPEP1L, SELENOS, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, SYNM, SYNM-AS1, TTC23
See casesPathogenic
(Nov 27, 2013)		no assertion criteria provided
14.
GRCh37:
Chr15:94576237-102383473
GRCh38:
Chr15:94033008-101843270
ADAMTS17, ALDH1A3, ALDH1A3-AS1, ARRDC4, ASB7, CERS3, CERS3-AS1, CHSY1, GCAWKR, IGF1R, IRAIN, LETR1, LINC00923, LINC00924, LINC01581, LINC01582, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC105369212, LOC110121345, LOC110121464, LOC112272574, LOC112296177, LOC112296178, LOC113939942, LOC116268479, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MCTP2, MEF2A, MIR1469, MIR4714, NR2F2, NR2F2-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PGPEP1L, SELENOS, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, SYNM, SYNM-AS1, TARS3, TM2D3, TTC23
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
15.
GRCh37:
Chr15:96313856-102351195
GRCh38:
Chr15:95770627-101810992
ADAMTS17, ALDH1A3, ALDH1A3-AS1, ARRDC4, ASB7, CERS3, CERS3-AS1, CHSY1, GCAWKR, IGF1R, IRAIN, LINC00923, LINC01582, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC105369212, LOC110121345, LOC110121464, LOC112272574, LOC112296178, LOC113939942, LOC116268479, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LRRC28, LRRK1, LUNAR1, LYSMD4, MEF2A, MIR1469, MIR4714, SELENOS, NR2F2, NR2F2-AS1, OR4F6, PCSK6, PCSK6-AS1, PGPEP1L, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, SYNM, SYNM-AS1, TARS3, TM2D3, TTC23
See casesPathogenic
(Oct 14, 2010)		no assertion criteria provided
16.
GRCh37:
Chr15:96567356-102461201
GRCh38:
Chr15:96024127-101920998
ADAMTS17, ALDH1A3, ALDH1A3-AS1, ARRDC4, ASB7, CERS3, CERS3-AS1, CHSY1, GCAWKR, IGF1R, IRAIN, LINC00923, LINC01582, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC105369212, LOC110121345, LOC110121464, LOC112272574, LOC112296178, LOC113939942, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MEF2A, MIR1469, MIR4714, PGPEP1L, NR2F2, NR2F2-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, SELENOS, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, SYNM, SYNM-AS1, TARS3, TM2D3, TTC23
See casesPathogenic
(Jan 28, 2013)		no assertion criteria provided
17.
GRCh37:
Chr15:96612654-102389781
GRCh38:
Chr15:96069425-101849578
ADAMTS17, ALDH1A3, ALDH1A3-AS1, ARRDC4, ASB7, CERS3, CERS3-AS1, CHSY1, GCAWKR, IGF1R, IRAIN, LINC00923, LINC01582, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC105369212, LOC110121345, LOC110121464, LOC112272574, LOC112296178, LOC113939942, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MEF2A, MIR1469, MIR4714, NR2F2, NR2F2-AS1, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PGPEP1L, SELENOS, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, SYNM, SYNM-AS1, TARS3, TM2D3, TTC23
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
18.
GRCh37:
Chr15:96869516-96873400
GRCh38:
Chr15:96326287-96330171
NR2F2, NR2F2-AS1See casesLikely benign
(Sep 21, 2012)		no assertion criteria provided
19.
GRCh37:
Chr15:96869582
GRCh38:
Chr15:96326353
NR2F2-AS1, NR2F2not providedUncertain significance
(Apr 6, 2017)		criteria provided, single submitter
20.
GRCh37:
Chr15:96869695
GRCh38:
Chr15:96326466
NR2F2, NR2F2-AS1not providedBenign
(Nov 12, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr15:96873020-102389781
GRCh38:
Chr15:96329791-101849578
ADAMTS17, ALDH1A3, ALDH1A3-AS1, ARRDC4, ASB7, CERS3, CERS3-AS1, CHSY1, GCAWKR, IGF1R, IRAIN, LINC00923, LINC01582, LINC02244, LINC02251, LINC02253, LINC02254, LINC02348, LINC02351, LINS1, LOC100507472, LOC101927310, LOC102723335, LOC110121345, LOC110121464, LOC112272574, LOC112296178, LOC113939942, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LRRC28, LRRK1, LUNAR1, LYSMD4, MEF2A, MIR1469, MIR4714, NR2F2, OR4F15, OR4F6, PCSK6, PCSK6-AS1, PGPEP1L, SELENOS, SNRPA1, SNRPA1-DT, SPATA41, SPATA8, SPATA8-AS1, SYNM, SYNM-AS1, TARS3, TM2D3, TTC23
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
22.
GRCh37:
Chr15:96873119-96874735
GRCh38:
Chr15:96329890-96331506
NR2F2See casesLikely benign
(Sep 21, 2012)		no assertion criteria provided
23.
GRCh37:
Chr15:96873119-96875800
GRCh38:
Chr15:96329890-96332571
NR2F2See casesLikely benign
(Sep 21, 2012)		no assertion criteria provided
24.
GRCh37:
Chr15:96873341-96875800
GRCh38:
Chr15:96330112-96332571
NR2F2See casesLikely benign
(Sep 21, 2012)		no assertion criteria provided
25.
GRCh37:
Chr15:96873441-96875578
GRCh38:
Chr15:96330212-96332349
NR2F2See casesBenign
(Feb 4, 2013)		no assertion criteria provided
26.
GRCh37:
Chr15:96874373
GRCh38:
Chr15:96331144
NR2F2not providedBenign
(Jun 20, 2021)		criteria provided, single submitter
27.
GRCh37:
Chr15:96875270
GRCh38:
Chr15:96332041
NR2F2not providedBenign
(Jun 20, 2021)		criteria provided, single submitter
28.
GRCh37:
Chr15:96875338
GRCh38:
Chr15:96332109
NR2F2A2SCongenital heart defects, multiple types, 4Uncertain significance
(Aug 30, 2021)		criteria provided, single submitter
29.
GRCh37:
Chr15:96875353
GRCh38:
Chr15:96332124
NR2F2T7ACongenital heart defects, multiple types, 4Uncertain significance
(Aug 27, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr15:96875370
GRCh38:
Chr15:96332141
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Apr 6, 2020)		criteria provided, single submitter
31.
GRCh37:
Chr15:96875398
GRCh38:
Chr15:96332169
NR2F2Q22*Inborn genetic diseasesPathogenic
(Jan 3, 2017)		criteria provided, single submitter
32.
GRCh37:
Chr15:96875410
GRCh38:
Chr15:96332181
NR2F2A26PInborn genetic diseasesUncertain significance
(Nov 8, 2021)		criteria provided, single submitter
33.
GRCh37:
Chr15:96875415-96875416
GRCh38:
Chr15:96332186-96332187
NR2F2V29fsCongenital heart defects, multiple types, 4Likely pathogenic
(Nov 7, 2016)		criteria provided, single submitter
34.
GRCh37:
Chr15:96875426-96875432
GRCh38:
Chr15:96332197-96332203
NR2F2P33fsCongenital heart defects, multiple types, 4, 46,xx sex reversal 5Pathogenic
(Jun 2, 2020)		no assertion criteria provided
35.
GRCh37:
Chr15:96875429
GRCh38:
Chr15:96332200
NR2F2P32RCongenital heart defects, multiple types, 4Uncertain significance
(Feb 28, 2022)		criteria provided, single submitter
36.
GRCh37:
Chr15:96875432-96875438
GRCh38:
Chr15:96332203-96332209
NR2F2G35fsnot providedLikely pathogenic
(Dec 5, 2019)		criteria provided, single submitter
37.
GRCh37:
Chr15:96875463
GRCh38:
Chr15:96332234
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Aug 16, 2022)		criteria provided, single submitter
38.
GRCh37:
Chr15:96875496
GRCh38:
Chr15:96332267
NR2F2Q54HInborn genetic diseasesUncertain significance
(Oct 26, 2021)		criteria provided, single submitter
39.
GRCh37:
Chr15:96875506
GRCh38:
Chr15:96332277
NR2F2G58RNR2F2-related congenital heart defectsUncertain significance
(May 30, 2019)		criteria provided, single submitter
40.
GRCh37:
Chr15:96875537
GRCh38:
Chr15:96332308
NR2F2S68NCongenital heart defects, multiple types, 4Uncertain significance
(Aug 10, 2022)		criteria provided, single submitter
41.
GRCh37:
Chr15:96875538
GRCh38:
Chr15:96332309
NR2F2S68RCongenital heart defects, multiple types, 4Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
42.
GRCh37:
Chr15:96875542-96875543
GRCh38:
Chr15:96332313-96332314
NR2F2Congenital heart defects, multiple types, 4Pathogenic
(Apr 3, 2014)		no assertion criteria provided
43.
GRCh37:
Chr15:96875544
GRCh38:
Chr15:96332315
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Mar 2, 2021)		criteria provided, single submitter
44.
GRCh37:
Chr15:96875551
GRCh38:
Chr15:96332322
NR2F2Q73*Congenital heart defects, multiple types, 4Pathogenic
(Dec 25, 2019)		criteria provided, single submitter
45.
GRCh37:
Chr15:96875571
GRCh38:
Chr15:96332342
NR2F2Congenital heart defects, multiple types, 4Likely benign
(May 10, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr15:96875581
GRCh38:
Chr15:96332352
NR2F2G83*Congenital heart defects, multiple types, 4Pathogenic
(Jun 2, 2020)		no assertion criteria provided
47.
GRCh37:
Chr15:96875598
GRCh38:
Chr15:96332369
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Nov 13, 2021)		criteria provided, single submitter
48.
GRCh37:
Chr15:96875603
GRCh38:
Chr15:96332374
NR2F2H90RCongenital heart defects, multiple types, 4, Neurodevelopmental disorderUncertain significance
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr15:96875608
GRCh38:
Chr15:96332379
NR2F2G92Rnot providedUncertain significance
(May 8, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr15:96875610
GRCh38:
Chr15:96332381
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Aug 31, 2022)		criteria provided, single submitter
51.
GRCh37:
Chr15:96875643
GRCh38:
Chr15:96332414
NR2F2F103LCongenital heart defects, multiple types, 4Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
52.
GRCh37:
Chr15:96875691
GRCh38:
Chr15:96332462
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Feb 6, 2020)		criteria provided, single submitter
53.
GRCh37:
Chr15:96875748
GRCh38:
Chr15:96332519
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Mar 11, 2021)		criteria provided, single submitter
54.
GRCh37:
Chr15:96875752
GRCh38:
Chr15:96332523
NR2F2L140FCongenital heart defects, multiple types, 4Uncertain significance
(Jun 11, 2020)		criteria provided, single submitter
55.
GRCh37:
Chr15:96875777
GRCh38:
Chr15:96332548
NR2F2not providedPathogenic
(Apr 9, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr15:96877300
GRCh38:
Chr15:96334071
NR2F2Congenital heart defects, multiple types, 4Likely benign
(May 21, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr15:96877330
GRCh38:
Chr15:96334101
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Apr 21, 2021)		criteria provided, single submitter
58.
GRCh37:
Chr15:96877389
GRCh38:
Chr15:96334160
NR2F2S176L, S23L, S43Lnot providedUncertain significance
(Jan 28, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr15:96877399
GRCh38:
Chr15:96334170
NR2F2Congenital heart defects, multiple types, 4, 46,xx sex reversal 5, Congenital heart defects, multiple types, 4
Benign/Likely benign
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr15:96877400
GRCh38:
Chr15:96334171
NR2F2G27R, G180R, G47RCongenital heart defects, multiple types, 4Uncertain significance
(Dec 2, 2021)		criteria provided, single submitter
61.
GRCh37:
Chr15:96877419-96877420
GRCh38:
Chr15:96334190-96334191
NR2F2R187fs, R34fs, R54fsCongenital heart defects, multiple types, 4Likely pathogenic
(May 6, 2021)		criteria provided, single submitter
62.
GRCh37:
Chr15:96877466
GRCh38:
Chr15:96334237
NR2F2Q69*, Q202*, Q49*Congenital heart defects, multiple types, 4Pathogenic
(Dec 3, 2020)		criteria provided, single submitter
63.
GRCh37:
Chr15:96877476
GRCh38:
Chr15:96334247
NR2F2N205I, N72I, N52ICongenital heart defects, multiple types, 4Pathogenic
(Apr 3, 2014)		no assertion criteria provided
64.
GRCh37:
Chr15:96877510
GRCh38:
Chr15:96334281
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Feb 18, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr15:96877533
GRCh38:
Chr15:96334304
NR2F2V91D, V224D, V71DCongenital heart defects, multiple types, 4Uncertain significance
(Oct 18, 2019)		criteria provided, single submitter
66.
GRCh37:
Chr15:96877544
GRCh38:
Chr15:96334315
NR2F2R75W, R95W, R228WCongenital heart defects, multiple types, 4Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
67.
GRCh37:
Chr15:96877549
GRCh38:
Chr15:96334320
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Mar 29, 2022)		criteria provided, single submitter
68.
GRCh37:
Chr15:96877553
GRCh38:
Chr15:96334324
NR2F2P231T, P78T, P98TCongenital heart defects, multiple types, 4Uncertain significance
(Oct 25, 2021)		criteria provided, single submitter
69.
GRCh37:
Chr15:96877554
GRCh38:
Chr15:96334325
NR2F2P231L, P78L, P98Lnot providedUncertain significance
(Jan 30, 2020)		criteria provided, single submitter
70.
GRCh37:
Chr15:96877571
GRCh38:
Chr15:96334342
NR2F2Q104*, Q237*, Q84*Congenital heart defects, multiple types, 4Uncertain significance
(Mar 27, 2016)		criteria provided, single submitter
71.
GRCh37:
Chr15:96877608
GRCh38:
Chr15:96334379
NR2F2W249*, W116*, W96*Congenital heart defects, multiple types, 4Uncertain significance
(Sep 13, 2018)		criteria provided, single submitter
72.
GRCh37:
Chr15:96877637
GRCh38:
Chr15:96334408
NR2F2Q106*, Q126*, Q259*Inborn genetic diseasesPathogenic
(Mar 8, 2022)		criteria provided, single submitter
73.
GRCh37:
Chr15:96877651
GRCh38:
Chr15:96334422
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Oct 1, 2020)		criteria provided, single submitter
74.
GRCh37:
Chr15:96877678
GRCh38:
Chr15:96334449
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Apr 12, 2019)		criteria provided, single submitter
75.
GRCh37:
Chr15:96877696
GRCh38:
Chr15:96334467
NR2F2Congenital heart defects, multiple types, 4Benign
(May 21, 2021)		criteria provided, single submitter
76.
GRCh37:
Chr15:96877701
GRCh38:
Chr15:96334472
NR2F2M127K, M147K, M280Knot providedUncertain significance
(Aug 16, 2022)		criteria provided, single submitter
77.
GRCh37:
Chr15:96877705
GRCh38:
Chr15:96334476
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Jul 12, 2022)		criteria provided, single submitter
78.
GRCh37:
Chr15:96877716-96877717
GRCh38:
Chr15:96334487-96334488
NR2F2V133fs, V153fs, V286fsnot providedPathogenic
(Jun 29, 2019)		criteria provided, single submitter
79.
GRCh37:
Chr15:96877744
GRCh38:
Chr15:96334515
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Oct 8, 2019)		criteria provided, single submitter
80.
GRCh37:
Chr15:96877780
GRCh38:
Chr15:96334551
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Feb 11, 2020)		criteria provided, single submitter
81.
GRCh37:
Chr15:96877793
GRCh38:
Chr15:96334564
NR2F2E158K, E178K, E311Knot providedLikely pathogenic
(Nov 30, 2022)		no assertion criteria provided
82.
GRCh37:
Chr15:96877802
GRCh38:
Chr15:96334573
NR2F2C181R, C314R, C161RInborn genetic diseasesLikely pathogenic
(Oct 31, 2017)		criteria provided, single submitter
83.
GRCh37:
Chr15:96877810
GRCh38:
Chr15:96334581
NR2F2K163N, K183N, K316NCongenital heart defects, multiple types, 4Uncertain significance
(Aug 20, 2021)		criteria provided, single submitter
84.
GRCh37:
Chr15:96877820
GRCh38:
Chr15:96334591
NR2F2Congenital heart defects, multiple types, 4, not providedLikely benign
(Mar 18, 2022)		criteria provided, single submitter
85.
GRCh37:
Chr15:96877833
GRCh38:
Chr15:96334604
NR2F2Congenital heart defects, multiple types, 4Pathogenic
(Apr 3, 2014)		no assertion criteria provided
86.
GRCh37:
Chr15:96877842-96877843
GRCh38:
Chr15:96334613-96334614
NR2F2Congenital heart defects, multiple types, 4Benign
(Mar 21, 2022)		criteria provided, single submitter
87.
GRCh37:
Chr15:96877850
GRCh38:
Chr15:96334621
NR2F2Congenital heart defects, multiple types, 4Benign
(Jun 20, 2022)		criteria provided, single submitter
88.
GRCh37:
Chr15:96878099
GRCh38:
Chr15:96334870
NR2F2not providedBenign
(Nov 12, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr15:96880510-96880511
GRCh38:
Chr15:96337281-96337282
NR2F2not providedBenign
(Jun 20, 2021)		criteria provided, single submitter
90.
GRCh37:
Chr15:96880511-96880513
GRCh38:
Chr15:96337282-96337284
NR2F2not providedBenign
(Jun 19, 2021)		criteria provided, single submitter
91.
GRCh37:
Chr15:96880566
GRCh38:
Chr15:96337337
NR2F2Congenital heart defects, multiple types, 4Likely benign
(Dec 1, 2021)		criteria provided, single submitter
92.
GRCh37:
Chr15:96880606
GRCh38:
Chr15:96337377
NR2F2V181L, V334L, V201LCongenital heart defects, multiple types, 4Uncertain significance
(Aug 26, 2021)		criteria provided, single submitter
93.
GRCh37:
Chr15:96880614
GRCh38:
Chr15:96337385
NR2F2not provided, Congenital heart defects, multiple types, 4Likely benign
(Mar 16, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr15:96880622
GRCh38:
Chr15:96337393
NR2F2K187fs, K207fs, K340fs46,xx sex reversal 5Likely pathogeniccriteria provided, single submitter
95.
GRCh37:
Chr15:96880628
GRCh38:
Chr15:96337399
NR2F2S341Y, S208Y, S188Ynot provided, AspleniaPathogenic/Likely pathogenic
(Sep 25, 2021)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr15:96880633-96880639
GRCh38:
Chr15:96337404-96337410
NR2F2C210fs, C343fs, C190fsnot providedPathogenic
(Aug 8, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr15:96880687
GRCh38:
Chr15:96337458
NR2F2G208R, G228R, G361Rnot providedUncertain significance
(Oct 1, 2020)		criteria provided, single submitter
98.
GRCh37:
Chr15:96880693
GRCh38:
Chr15:96337464
NR2F2L363I, L210I, L230ICongenital heart defects, multiple types, 4Uncertain significance
(Feb 5, 2020)		no assertion criteria provided
99.
GRCh37:
Chr15:96880700
GRCh38:
Chr15:96337471
NR2F2L212H, L232H, L365HCongenital heart defects, multiple types, 4Uncertain significance
(May 15, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr15:96880703
GRCh38:
Chr15:96337474
NR2F2R233P, R366P, R213PInborn genetic diseasesPathogenic
(Jun 6, 2016)		criteria provided, single submitter
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