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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr13:19020001-115085141
GRCh38:
Chr13:18445862-114327173
ABCC4, ABHD13, ACOD1, ADPRHL1, AKAP11, ALG11, ALG5, ALOX5AP, AMER2, ANKRD10, ANKRD10-IT1, ARGLU1, ARHGEF7, ARHGEF7-AS1, ARHGEF7-AS2, ARL11, ATP11A, ATP11A-AS1, ATP11AUN, ATP12A, ATP4B, ATP7B, ATP8A2, ATXN8OS, B3GLCT, BIVM, BIVM-ERCC5, BORA, BRCA2, C13orf42, C13orf46, C1QTNF9, C1QTNF9B, CAB39L, CARS2, CBY2, CCDC122, CCDC168, CCDC169, CCDC169-SOHLH2, CCDC70, CCNA1, CDADC1, CDC16, CDK8, CDX2, CENPJ, CFAP97D2, CHAMP1, CKAP2, CLDN10, CLDN10-AS1, CLN5, CLYBL, CLYBL-AS1, CLYBL-AS2, CNMD, COG3, COG6, COL4A1, COL4A2, COL4A2-AS1, COL4A2-AS2, COMMD6, CPB2, CPB2-AS1, CRYL1, CSNK1A1L, CUL4A, CYSLTR2, DACH1, DAOA, DAOA-AS1, DCLK1, DCT, DCUN1D2, DGKH, DHRS12, DIAPH3, DIAPH3-AS1, DIAPH3-AS2, DIS3, DLEU1, DLEU1-AS1, DLEU2, DLEU7, DLEU7-AS1, DNAJC15, DNAJC3, DNAJC3-DT, DOCK9, DOCK9-AS1, DOCK9-DT, DZIP1, EBPL, EDNRB, EDNRB-AS1, EEF1AKMT1, EFNB2, ELF1, ENOX1, ENOX1-AS2, EPSTI1, ERCC5, ERICH6B, ESD, EXOSC8, F10, F10-AS1, F7, FAM124A, FAM216B, FARP1, FBXL3, FGF14, FGF14-AS1, FGF14-AS2, FGF14-IT1, FGF9, FKSG29, FLT1, FLT3, FNDC3A, FOXO1, FREM2, FREM2-AS1, FRY, FRY-AS1, GAS6, GAS6-AS1, GAS6-DT, GGACT, GJA3, GJB2, GJB6, GPALPP1, GPC5, GPC5-AS1, GPC5-AS2, GPC6, GPC6-AS1, GPC6-AS2, GPR12, GPR18, GPR180, GPR183, GRK1, GRTP1, GRTP1-AS1, GSX1, GTF2F2, GTF3A, HMGB1, HNRNPA1L2, HS6ST3, HSPH1, HTR2A, HTR2A-AS1, IFT88, IL17D, ING1, INTS6, INTS6-AS1, IPO5, IRS2, ITGBL1, ITM2B, KATNAL1, KBTBD6, KBTBD7, KCNRG, KCTD12, KCTD4, KL, KLF12, KLF5, KLHL1, KPNA3, LACC1, LAMP1, LATS2, LCP1, LHFPL6, LIG4, LINC00297, LINC00327, LINC00330, LINC00331, LINC00332, LINC00333, LINC00343, LINC00345, LINC00347, LINC00348, LINC00350, LINC00351, LINC00353, LINC00354, LINC00355, LINC00358, LINC00359, LINC00363, LINC00364, LINC00365, LINC00366, LINC00367, LINC00368, LINC00370, LINC00373, LINC00374, LINC00375, LINC00376, LINC00377, LINC00378, LINC00379, LINC00380, LINC00381, LINC00382, LINC00383, LINC00384, LINC00385, LINC00390, LINC00391, LINC00392, LINC00393, LINC00395, LINC00396, LINC00397, LINC00398, LINC00399, LINC00400, LINC00402, LINC00407, LINC00408, LINC00410, LINC00411, LINC00412, LINC00415, LINC00417, LINC00421, LINC00423, LINC00424, LINC00426, LINC00428, LINC00430, LINC00431, LINC00433, LINC00434, LINC00437, LINC00440, LINC00442, LINC00443, LINC00444, LINC00445, LINC00446, LINC00448, LINC00449, LINC00452, LINC00454, LINC00456, LINC00457, LINC00458, LINC00459, LINC00460, LINC00462, LINC00463, LINC00539, LINC00540, LINC00543, LINC00544, LINC00545, LINC00547, LINC00548, LINC00550, LINC00551, LINC00552, LINC00554, LINC00557, LINC00558, LINC00559, LINC00560, LINC00561, LINC00562, LINC00563, LINC00564, LINC00565, LINC00566, LINC00567, LINC00571, LINC00572, LINC00598, LINC00621, LINC00676, LINC01038, LINC01039, LINC01040, LINC01043, LINC01044, LINC01046, LINC01047, LINC01048, LINC01049, LINC01050, LINC01052, LINC01053, LINC01055, LINC01058, LINC01065, LINC01068, LINC01069, LINC01070, LINC01072, LINC01074, LINC01075, LINC01077, LINC01078, LINC01080, LINC01198, LINC01232, LINC01309, LINC01442, LINC02333, LINC02336, LINC02337, LINC02338, LINC02339, LINC02340, LINC02341, LINC02343, LINC02344, LMO7, LMO7-AS1, LMO7DN, LMO7DN-IT1, LNX2, LOC100129307, LOC100288208, LOC100506016, LOC101060553, LOC101927284, LOC101927437, LOC101928697, LOC101928730, LOC101928764, LOC101928841, LOC101929140, LOC101929259, LOC101929657, LOC102723345, LOC102723968, LOC105370203, LOC105370268, LOC105370295, LOC105370361, LOC105370362, LOC105376684, LOC106721785, LOC106783494, LOC107457599, LOC107882127, LOC107882129, LOC107984132, LOC107992391, LOC108175343, LOC108281153, LOC108318668, LOC109461478, LOC109580097, LOC110008580, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120855, LOC110120881, LOC110120889, LOC110120891, LOC110120897, LOC110120909, LOC110120930, LOC110120933, LOC110120945, LOC110120946, LOC110120950, LOC110121336, LOC110121346, LOC110121347, LOC110121359, LOC110121360, LOC110121375, LOC110121384, LOC110121400, LOC110121473, LOC111365190, LOC111429622, LOC111562370, LOC112163637, LOC112163638, LOC112163639, LOC112163640, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC112163647, LOC112163648, LOC112163649, LOC112163650, LOC112163651, LOC112163652, LOC112163653, LOC112163654, LOC112163655, LOC112163656, LOC112163657, LOC112163658, LOC112163662, LOC112163663, LOC112163664, LOC112163665, LOC112163666, LOC112163667, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC112163672, LOC112163674, LOC112163675, LOC112163676, LOC112267897, LOC112268114, LOC113939938, LOC113939939, LOC116268454, LOC116268455, LOC116268456, LOC116268457, LOC647264, LOC780529, LPAR6, LRCH1, LRRC63, MAB21L1, MBNL2, MCF2L, MCF2L-AS1, MED4, MED4-AS1, MEDAG, METTL21C, MICU2, MIPEP, MIR1267, MIR1297, MIR15A, MIR16-1, MIR17, MIR17HG, MIR18A, MIR19A, MIR19B1, MIR20A, MIR2276, MIR2681, MIR3168, MIR3169, MIR3170, MIR320D1, MIR3613, MIR3665, MIR4305, MIR4306, MIR4499, MIR4500, MIR4500HG, MIR4501, MIR4502, MIR4703, MIR4704, MIR4705, MIR5006, MIR5007, MIR548AR, MIR548AS, MIR548X2, MIR5693, MIR621, MIR622, MIR623, MIR759, MIR8073, MIR8075, MIR8079, MIR92A1, MLNR, MPHOSPH8, MRPL57, MRPS31, MTIF3, MTMR6, MTRF1, MTUS2, MTUS2-AS1, MYCBP2, MYCBP2-AS1, MYCBP2-AS2, MYO16, MYO16-AS1, MYO16-AS2, MZT1, N4BP2L1, N4BP2L2, N4BP2L2-IT2, NAA16, NALCN, NALCN-AS1, NALF1, NALF1-IT1, NAXD, NBEA, NDFIP2, NDFIP2-AS1, NEK3, NEK5, NHLRC3, NRAD1, NUDT15, NUFIP1, NUP58, OBI1, OBI1-AS1, OLFM4, OXGR1, PABPC3, PAN3, PAN3-AS1, PARP4, PCCA, PCCA-AS1, PCCA-DT, PCDH17, PCDH20, PCDH8, PCDH9, PCDH9-AS2, PCDH9-AS3, PCDH9-AS4, PCID2, PCOTH, PDS5B, PDX1, PHF11, PIBF1, PLUT, POGLUT2, POLR1D, POMP, POSTN, POU4F1, PRECSIT, PROSER1, PROZ, PRR20A, PRR20B, PRR20C, PRR20D, PRR20E, PSPC1, RAB20, RAP2A, RASA3, RASA3-IT1, RASL11A, RB1, RB1-DT, RBM26, RBM26-AS1, RCBTB1, RCBTB2, RFC3, RFXAP, RGCC, RNASEH2B, RNASEH2B-AS1, RNF113B, RNF17, RNF6, RPL21, RUBCNL, RXFP2, SACS, SACS-AS1, SAP18, SCEL, SCEL-AS1, SERP2, SERPINE3, SERTM1, SETDB2, SETDB2-PHF11, SGCG, SHISA2, SIAH3, SKA3, SLAIN1, SLC10A2, SLC15A1, SLC25A15, SLC25A30, SLC25A30-AS1, SLC46A3, SLC7A1, SLITRK1, SLITRK5, SLITRK6, SMAD9, SMIM2, SMIM2-AS1, SMIM2-IT1, SNORA107, SNORA27, SNORA31, SNORA31B, SNORD102, SNORD13G, SNORD31B, SOHLH2, SOX1, SOX1-OT, SOX21, SOX21-AS1, SPACA7, SPART, SPART-AS1, SPATA13, SPATA13-AS1, SPRY2, SPRYD7, STARD13, STARD13-AS, STK24, STK24-AS1, STOML3, SUCLA2, SUCLA2-AS1, SUGT1, SUGT1-DT, SUPT20H, TBC1D4, TDRD3, TEX26, TEX26-AS1, TEX29, TEX30, TFDP1, TGDS, THSD1, TM9SF2, TMCO3, TMEM255B, TMEM272, TMTC4, TNFRSF19, TNFSF11, TNFSF13B, TPP2, TPT1, TPT1-AS1, TPTE2, TRE-TTC1-2, TRE-TTC2-1, TRF-GAA1-5, TRIM13, TRN-GTT2-4, TRPC4, TSC22D1, TSC22D1-AS1, TUBA3C, TUBGCP3, TUSC8, UBAC2, UBAC2-AS1, UBE2L5, UBL3, UCHL3, UFM1, UGGT2, UPF3A, URAD, USP12, USP12-AS1, USP12-DT, USPL1, UTP14C, VPS36, VWA8, VWA8-AS1, WASF3, WBP4, WDFY2, XPO4, ZAR1L, ZC3H13, ZDHHC20, ZIC2, ZIC5, ZMYM2, ZMYM5
See casesPathogenic
(Jan 27, 2011)
no assertion criteria providedVCV000146305
2.
GRCh37:
Chr13:19030180-115105760
GRCh38:
Chr13:18456040-114340285
ABCC4, ABHD13, ACOD1, ADPRHL1, AKAP11, ALG11, ALG5, ALOX5AP, AMER2, ANKRD10, ANKRD10-IT1, ARGLU1, ARHGEF7, ARHGEF7-AS1, ARHGEF7-AS2, ARL11, ATP11A, ATP11A-AS1, ATP11AUN, ATP12A, ATP4B, ATP7B, ATP8A2, ATXN8OS, B3GLCT, BIVM, BIVM-ERCC5, BORA, BRCA2, C13orf42, C13orf46, C1QTNF9, C1QTNF9B, CAB39L, CARS2, CBY2, CCDC122, CCDC168, CCDC169, CCDC169-SOHLH2, CCDC70, CCNA1, CDADC1, CDC16, CDK8, CDX2, CENPJ, CFAP97D2, CHAMP1, CKAP2, CLDN10, CLDN10-AS1, CLN5, CLYBL, CLYBL-AS1, CLYBL-AS2, CNMD, COG3, COG6, COL4A1, COL4A2, COL4A2-AS1, COL4A2-AS2, COMMD6, CPB2, CPB2-AS1, CRYL1, CSNK1A1L, CUL4A, CYSLTR2, DACH1, DAOA, DAOA-AS1, DCLK1, DCT, DCUN1D2, DGKH, DHRS12, DIAPH3, DIAPH3-AS1, DIAPH3-AS2, DIS3, DLEU1, DLEU1-AS1, DLEU2, DLEU7, DLEU7-AS1, DNAJC15, DNAJC3, DNAJC3-DT, DOCK9, DOCK9-AS1, DOCK9-DT, DZIP1, EBPL, EDNRB, EDNRB-AS1, EEF1AKMT1, EFNB2, ELF1, ENOX1, ENOX1-AS2, EPSTI1, ERCC5, ERICH6B, ESD, EXOSC8, F10, F10-AS1, F7, FAM124A, FAM216B, FARP1, FBXL3, FGF14, FGF14-AS1, FGF14-AS2, FGF14-IT1, FGF9, FKSG29, FLT1, FLT3, FNDC3A, FOXO1, FREM2, FREM2-AS1, FRY, FRY-AS1, GAS6, GAS6-AS1, GAS6-DT, GGACT, GJA3, GJB2, GJB6, GPALPP1, GPC5, GPC5-AS1, GPC5-AS2, GPC6, GPC6-AS1, GPC6-AS2, GPR12, GPR18, GPR180, GPR183, GRK1, GRTP1, GRTP1-AS1, GSX1, GTF2F2, GTF3A, HMGB1, HNRNPA1L2, HS6ST3, HSPH1, HTR2A, HTR2A-AS1, IFT88, IL17D, ING1, INTS6, INTS6-AS1, IPO5, IRS2, ITGBL1, ITM2B, KATNAL1, KBTBD6, KBTBD7, KCNRG, KCTD12, KCTD4, KL, KLF12, KLF5, KLHL1, KPNA3, LACC1, LAMP1, LATS2, LCP1, LHFPL6, LIG4, LINC00297, LINC00327, LINC00330, LINC00331, LINC00332, LINC00333, LINC00343, LINC00345, LINC00347, LINC00348, LINC00350, LINC00351, LINC00353, LINC00354, LINC00355, LINC00358, LINC00359, LINC00363, LINC00364, LINC00365, LINC00366, LINC00367, LINC00368, LINC00370, LINC00373, LINC00374, LINC00375, LINC00376, LINC00377, LINC00378, LINC00379, LINC00380, LINC00381, LINC00382, LINC00383, LINC00384, LINC00385, LINC00390, LINC00391, LINC00392, LINC00393, LINC00395, LINC00396, LINC00397, LINC00398, LINC00399, LINC00400, LINC00402, LINC00407, LINC00408, LINC00410, LINC00411, LINC00412, LINC00415, LINC00417, LINC00421, LINC00423, LINC00424, LINC00426, LINC00428, LINC00430, LINC00431, LINC00433, LINC00434, LINC00437, LINC00440, LINC00442, LINC00443, LINC00444, LINC00445, LINC00446, LINC00448, LINC00449, LINC00452, LINC00454, LINC00456, LINC00457, LINC00458, LINC00459, LINC00460, LINC00462, LINC00463, LINC00539, LINC00540, LINC00543, LINC00544, LINC00545, LINC00547, LINC00548, LINC00550, LINC00551, LINC00552, LINC00554, LINC00557, LINC00558, LINC00559, LINC00560, LINC00561, LINC00562, LINC00563, LINC00564, LINC00565, LINC00566, LINC00567, LINC00571, LINC00572, LINC00598, LINC00621, LINC00676, LINC01038, LINC01039, LINC01040, LINC01043, LINC01044, LINC01046, LINC01047, LINC01048, LINC01049, LINC01050, LINC01052, LINC01053, LINC01054, LINC01055, LINC01058, LINC01065, LINC01068, LINC01069, LINC01070, LINC01072, LINC01074, LINC01075, LINC01077, LINC01078, LINC01080, LINC01198, LINC01232, LINC01309, LINC01442, LINC02333, LINC02336, LINC02337, LINC02338, LINC02339, LINC02340, LINC02341, LINC02343, LINC02344, LMO7, LMO7-AS1, LMO7DN, LMO7DN-IT1, LNX2, LOC100129307, LOC100288208, LOC100506016, LOC101060553, LOC101927284, LOC101927437, LOC101928697, LOC101928730, LOC101928764, LOC101928841, LOC101929140, LOC101929259, LOC101929657, LOC102723345, LOC102723968, LOC105370203, LOC105370268, LOC105370295, LOC105370361, LOC105370362, LOC105376684, LOC106721785, LOC106783494, LOC107457599, LOC107882127, LOC107882129, LOC107984132, LOC107992391, LOC108175343, LOC108281153, LOC108318668, LOC109461478, LOC109580097, LOC110008580, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120855, LOC110120881, LOC110120889, LOC110120891, LOC110120897, LOC110120909, LOC110120930, LOC110120933, LOC110120945, LOC110120946, LOC110120950, LOC110121336, LOC110121346, LOC110121347, LOC110121359, LOC110121360, LOC110121375, LOC110121384, LOC110121400, LOC110121473, LOC111365190, LOC111429622, LOC111562370, LOC112163637, LOC112163638, LOC112163639, LOC112163640, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC112163647, LOC112163648, LOC112163649, LOC112163650, LOC112163651, LOC112163652, LOC112163653, LOC112163654, LOC112163655, LOC112163656, LOC112163657, LOC112163658, LOC112163662, LOC112163663, LOC112163664, LOC112163665, LOC112163666, LOC112163667, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC112163672, LOC112163674, LOC112163675, LOC112163676, LOC112267897, LOC112268114, LOC113939938, LOC113939939, LOC116268454, LOC116268455, LOC116268456, LOC116268457, LOC647264, LOC780529, LPAR6, LRCH1, LRRC63, MAB21L1, MBNL2, MCF2L, MCF2L-AS1, MED4, MED4-AS1, MEDAG, METTL21C, MICU2, MIPEP, MIR1267, MIR1297, MIR15A, MIR16-1, MIR17, MIR17HG, MIR18A, MIR19A, MIR19B1, MIR20A, MIR2276, MIR2681, MIR3168, MIR3169, MIR3170, MIR320D1, MIR3613, MIR3665, MIR4305, MIR4306, MIR4499, MIR4500, MIR4500HG, MIR4501, MIR4502, MIR4703, MIR4704, MIR4705, MIR5006, MIR5007, MIR548AR, MIR548AS, MIR548X2, MIR5693, MIR621, MIR622, MIR623, MIR759, MIR8073, MIR8075, MIR8079, MIR92A1, MLNR, MPHOSPH8, MRPL57, MRPS31, MTIF3, MTMR6, MTRF1, MTUS2, MTUS2-AS1, MYCBP2, MYCBP2-AS1, MYCBP2-AS2, MYO16, MYO16-AS1, MYO16-AS2, MZT1, N4BP2L1, N4BP2L2, N4BP2L2-IT2, NAA16, NALCN, NALCN-AS1, NALF1, NALF1-IT1, NAXD, NBEA, NDFIP2, NDFIP2-AS1, NEK3, NEK5, NHLRC3, NRAD1, NUDT15, NUFIP1, NUP58, OBI1, OBI1-AS1, OLFM4, OXGR1, PABPC3, PAN3, PAN3-AS1, PARP4, PCCA, PCCA-AS1, PCCA-DT, PCDH17, PCDH20, PCDH8, PCDH9, PCDH9-AS2, PCDH9-AS3, PCDH9-AS4, PCID2, PCOTH, PDS5B, PDX1, PHF11, PIBF1, PLUT, POGLUT2, POLR1D, POMP, POSTN, POU4F1, PRECSIT, PROSER1, PROZ, PRR20A, PRR20B, PRR20C, PRR20D, PRR20E, PSPC1, RAB20, RAP2A, RASA3, RASA3-IT1, RASL11A, RB1, RB1-DT, RBM26, RBM26-AS1, RCBTB1, RCBTB2, RFC3, RFXAP, RGCC, RNASEH2B, RNASEH2B-AS1, RNF113B, RNF17, RNF6, RPL21, RUBCNL, RXFP2, SACS, SACS-AS1, SAP18, SCEL, SCEL-AS1, SERP2, SERPINE3, SERTM1, SETDB2, SETDB2-PHF11, SGCG, SHISA2, SIAH3, SKA3, SLAIN1, SLC10A2, SLC15A1, SLC25A15, SLC25A30, SLC25A30-AS1, SLC46A3, SLC7A1, SLITRK1, SLITRK5, SLITRK6, SMAD9, SMIM2, SMIM2-AS1, SMIM2-IT1, SNORA107, SNORA27, SNORA31, SNORA31B, SNORD102, SNORD13G, SNORD31B, SOHLH2, SOX1, SOX1-OT, SOX21, SOX21-AS1, SPACA7, SPART, SPART-AS1, SPATA13, SPATA13-AS1, SPRY2, SPRYD7, STARD13, STARD13-AS, STK24, STK24-AS1, STOML3, SUCLA2, SUCLA2-AS1, SUGT1, SUGT1-DT, SUPT20H, TBC1D4, TDRD3, TEX26, TEX26-AS1, TEX29, TEX30, TFDP1, TGDS, THSD1, TM9SF2, TMCO3, TMEM255B, TMEM272, TMTC4, TNFRSF19, TNFSF11, TNFSF13B, TPP2, TPT1, TPT1-AS1, TPTE2, TRE-TTC1-2, TRE-TTC2-1, TRF-GAA1-5, TRIM13, TRN-GTT2-4, TRPC4, TSC22D1, TSC22D1-AS1, TUBA3C, TUBGCP3, TUSC8, UBAC2, UBAC2-AS1, UBE2L5, UBL3, UCHL3, UFM1, UGGT2, UPF3A, URAD, USP12, USP12-AS1, USP12-DT, USPL1, UTP14C, VPS36, VWA8, VWA8-AS1, WASF3, WBP4, WDFY2, XPO4, ZAR1L, ZC3H13, ZDHHC20, ZIC2, ZIC5, ZMYM2, ZMYM5
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151282
3.
GRCh37:
Chr13:19139188-115085141
GRCh38:
Chr13:18565048-114327173
KCTD4, RASL11A, C1QTNF9B, SHISA2, NHLRC3, SERP2, SERTM1, LINC00547, LINC00548, TUSC8, ATP11AUN, MIR15A, MIR16-1, MIR17, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, MIR17HG, LINC00544, LINC00545, ALG11, MZT1, PCOTH, SNORA27, TSC22D1-AS1, MIR4500HG, LINC00452, CCDC168, URAD, ZAR1L, LINC00598, C13orf42, SERPINE3, LOC647264, GAS6-AS1, SNORA31, MIR621, MIR622, MIR623, LINC00460, NALF1, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, ACOD1, LOC780529, LOC100129307, LINC00462, COL4A2-AS2, LINC00552, FKSG29, LINC00543, LINC00426, TRE-TTC2-1, TRN-GTT2-4, TRF-GAA1-5, TRE-TTC1-2, TPT1-AS1, LINC00421, LOC100288208, PAN3-AS1, DNAJC3-DT, UBAC2-AS1, MCF2L-AS1, MIR1297, MIR1267, MIR759, MIR2276, MIR320D1, MIR4306, MIR3168, MIR3170, MIR4305, MIR3169, MIR3665, MIR3613, ANKRD10-IT1, EDNRB-AS1, RBM26-AS1, SOX1-OT, LOC100506016, GAS6-DT, LINC00540, SACS-AS1, LINC00327, TEX26-AS1, FRY-AS1, LINC00445, SPART-AS1, VWA8-AS1, INTS6-AS1, LINC00458, SOX21-AS1, LINC00402, C13orf46, CPB2-AS1, CCDC169-SOHLH2, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4704, MIR4502, MIR4705, MIR548X2, MIR4499, MIR4703, LINC00408, LINC00539, MIR5007, MIR5693, MIR5006, MIR548AR, MIR548AS, DOCK9-DT, LINC00554, LINC00557, LINC00561, LINC00564, LINC00566, LINC00562, PLUT, LINC00558, LINC00560, LINC00563, LINC00565, LINC00572, RB1-DT, MED4-AS1, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, LINC00297, CLYBL-AS2, PCDH9-AS2, MYO16-AS2, GRTP1-AS1, STK24-AS1, USP12-AS1, USP12-AS2, FREM2-AS1, DLEU7-AS1, FGF14-AS1, HTR2A-AS1, PCDH9-AS3, PCDH9-AS4, DOCK9-AS1, MTUS2-AS1, LINC00331, LINC00332, LINC00333, ENOX1-AS2, LINC00350, LINC00351, LINC00353, LINC00358, LINC00364, LINC00365, LINC00366, LINC00379, LINC00381, LINC00392, LINC00393, LINC00395, LINC00398, LINC00400, LINC00411, LINC00417, LINC00423, LINC00433, LINC00434, LINC00440, LINC00443, LINC00446, LINC00448, LINC00454, LINC00457, LINC00459, LINC00424, LINC00559, LINC00571, CLDN10-AS1, DIAPH3-AS1, DIAPH3-AS2, COL4A2-AS1, ATP11A-AS1, NDFIP2-AS1, MYCBP2-AS1, MYCBP2-AS2, OBI1-AS1, ARHGEF7-AS1, SPATA13-AS1, ARHGEF7-AS2, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, RASA3-IT1, NALF1-IT1, SMIM2-IT1, PCCA-AS1, NALCN-AS1, LINC00348, MYO16-AS1, LINC00359, LINC00621, LOC101060553, LINC00676, LINC01080, LINC02338, LINC00378, LINC02339, LMO7-AS1, LINC01069, LINC00382, LINC01049, LINC00391, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LOC101928697, LINC01070, LOC101928730, LINC01043, LOC101928764, LOC101928841, LINC00463, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, CFAP97D2, SUCLA2-AS1, LOC101929657, LINC00380, LINC00367, LINC00397, LINC00384, MIR8073, MIR8075, MIR8079, LINC01053, LINC00412, LOC102723345, LINC01065, LOC102723968, LINC01038, LINC01232, LINC02333, LINC01442, LINC00456, LINC01046, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01058, LINC01068, LINC01055, LINC01075, LINC01044, LINC00363, LINC00399, LMO7DN-IT1, LINC01309, LINC00431, LINC01072, LINC00375, LINC00396, LINC00428, LINC01039, LINC00376, SCEL-AS1, F10-AS1, LINC02340, LINC00385, LINC02344, LINC02343, LINC02341, LINC00390, LOC105370203, LINC00345, LINC01052, LOC105370268, LOC105370295, LINC00373, LINC01040, LINC02336, PCCA-DT, LINC00370, LOC105370361, LOC105370362, LINC02337, LOC105376684, LINC01047, LINC00374, LINC00430, LINC01078, LINC00407, LINC01074, LINC00449, SNORA107, LOC106721785, LOC106783494, LINC01077, SETDB2-PHF11, LOC107457599, LOC107882127, LOC107882129, LINC00415, LOC107984132, LINC00444, LOC107992391, LOC108175343, LOC108281153, LOC108318668, LOC109461478, LOC109580097, SNORA31B, SNORD31B, SNORD13G, LOC110008580, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120855, LOC110120881, LOC110120889, LOC110120891, LOC110120897, LOC110120909, LOC110120930, LOC110120933, LOC110120945, LOC110120946, LOC110120950, LOC110121336, LOC110121346, LOC110121347, LOC110121359, LOC110121360, LOC110121375, LOC110121384, LOC110121400, LOC110121473, LOC111365190, LOC111429622, LOC111562370, LOC112163637, LOC112163638, LOC112163639, LOC112163640, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC112163647, LOC112163648, LOC112163649, LOC112163650, LOC112163651, LOC112163652, LOC112163653, LOC112163654, LOC112163655, LOC112163656, LOC112163657, LOC112163658, LOC112163662, LOC112163663, LOC112163664, LOC112163665, LOC112163666, LOC112163667, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC112163672, LOC112163674, LOC112163675, LOC112163676, LOC112267897, LOC112268114, LOC113939938, LOC113939939, LOC116268454, LOC116268455, LOC116268456, LOC116268457, SUGT1-DT, PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, CDK8, CDX2, RCBTB2, CLN5, COL4A1, COL4A2, CPB2, DACH1, DCT, GPR183, EDNRB, EFNB2, ELF1, ERCC5, ESD, F7, F10, FGF9, FGF14, GPC5, FOXO1, FLT1, FLT3, GAS6, GJA3, GJB2, GPR12, GPR18, MLNR, GTF2F2, GTF3A, HMGB1, HTR2A, ING1, PDX1, KPNA3, IPO5, LAMP1, LCP1, LIG4, LMO7, MAB21L1, SMAD9, MIPEP, NEK3, PABPC3, PCCA, PCDH8, PCDH9, UBL3, POU4F1, DNAJC3, RAP2A, RB1, RFC3, RFXAP, GRK1, RNF6, RPL21, ATXN8OS, SGCG, SLC7A1, SLC10A2, SLC15A1, SOX1, TFDP1, TPP2, TPT1, TRPC4, TUBA3C, UCHL3, ZIC2, ZMYM2, IFT88, STK24, CUL4A, TNFSF11, IRS2, SCEL, SUCLA2, DLEU2, TSC22D1, PROZ, ARHGEF7, CDC16, CCNA1, CLDN10, MTMR6, DCLK1, ZMYM5, ITGBL1, KL, TM9SF2, ITM2B, MTRF1, UTP14C, NUP58, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFPL6, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, CNMD, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPART, LRCH1, ATP11A, MCF2L, MTUS2, DOCK9, TGDS, SLITRK5, FBXL3, SACS, INTS6, LATS2, CKAP2, NUFIP1, SNORD102, NBEA, OXGR1, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, POLR1D, CRYL1, PHF11, POMP, UFM1, ATP8A2, IL17D, NDFIP2, MPHOSPH8, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, PSPC1, NUDT15, GPALPP1, TNFRSF19, SUPT20H, ANKRD10, RAB20, NAXD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, POGLUT2, CARS2, OBI1, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, RUBCNL, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, TPTE2, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, N4BP2L2-IT2, TEX29, NRAD1, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00355, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, UBE2L5, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, CBY2, DLEU7, FAM124A, LRRC63, EEF1AKMT1, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, PRECSIT, CHAMP1, SIAH3, KCNRG, TMEM272, SLC46A3, UBAC2, LINC00550, LINC00347, C1QTNF9, FREM2, NEK5, TMEM255B, LINC00442
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059851
4.
GRCh37:
Chr13:19296527-115085141
GRCh38:
Chr13:18850545-114327173
LINC00457, LINC00459, LINC00424, LINC00559, LINC00571, CLDN10-AS1, DIAPH3-AS1, DIAPH3-AS2, COL4A2-AS1, ATP11A-AS1, NDFIP2-AS1, MYCBP2-AS1, MYCBP2-AS2, OBI1-AS1, ARHGEF7-AS1, SPATA13-AS1, ARHGEF7-AS2, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, RASA3-IT1, NALF1-IT1, SMIM2-IT1, PCCA-AS1, NALCN-AS1, LINC00348, MYO16-AS1, LINC00359, LINC00621, LOC101060553, LINC00676, LINC01080, LINC02338, LINC00378, LINC02339, LMO7-AS1, LINC01069, LINC00382, LINC01049, LINC00391, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LOC101928697, LINC01070, LOC101928730, LINC01043, LOC101928764, LOC101928841, LINC00463, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, CFAP97D2, SUCLA2-AS1, LOC101929657, LINC00380, LINC00367, LINC00397, LINC00384, MIR8073, MIR8075, MIR8079, LINC01053, LINC00412, LOC102723345, LINC01065, LOC102723968, LINC01038, LINC01232, LINC02333, LINC01442, LINC00456, LINC01046, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01058, LINC01068, LINC01055, LINC01075, LINC01044, LINC00363, LINC00399, LMO7DN-IT1, LINC01309, LINC00431, LINC01072, LINC00375, LINC00396, LINC00428, LINC01039, LINC00376, SCEL-AS1, F10-AS1, LINC02340, LINC00385, LINC02344, LINC02343, LINC02341, LINC00390, LOC105370203, LINC00345, LINC01052, LOC105370268, LOC105370295, LINC00373, LINC01040, LINC02336, PCCA-DT, LINC00370, LOC105370361, LOC105370362, LINC02337, LOC105376684, LINC01047, LINC00374, LINC00430, LINC01078, LINC00407, LINC01074, LINC00449, SNORA107, LOC106721785, LOC106783494, LINC01077, SETDB2-PHF11, LOC107457599, LOC107882127, LOC107882129, LINC00415, LOC107984132, LINC00444, LOC107992391, LOC108175343, LOC108281153, LOC108318668, LOC109461478, LOC109580097, SNORA31B, SNORD31B, SNORD13G, LOC110008580, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120855, LOC110120881, LOC110120889, LOC110120891, LOC110120897, LOC110120909, LOC110120930, LOC110120933, LOC110120945, LOC110120946, LOC110120950, LOC110121336, LOC110121346, LOC110121347, LOC110121359, LOC110121360, LOC110121375, LOC110121384, LOC110121400, LOC110121473, LOC111365190, LOC111429622, LOC111562370, LOC112163637, LOC112163638, LOC112163639, LOC112163640, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC112163647, LOC112163648, LOC112163649, LOC112163650, LOC112163651, LOC112163652, LOC112163653, LOC112163654, LOC112163655, LOC112163656, LOC112163657, LOC112163658, LOC112163662, LOC112163663, LOC112163664, LOC112163665, LOC112163666, LOC112163667, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC112163672, LOC112163674, LOC112163675, LOC112163676, LOC112267897, LOC112268114, LOC113939938, LOC113939939, LOC116268454, LOC116268455, LOC116268456, LOC116268457, SUGT1-DT, PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, CDK8, CDX2, RCBTB2, CLN5, COL4A1, COL4A2, CPB2, DACH1, DCT, GPR183, EDNRB, EFNB2, ELF1, ERCC5, ESD, F7, F10, FGF9, FGF14, GPC5, FOXO1, FLT1, FLT3, GAS6, GJA3, GJB2, GPR12, GPR18, MLNR, GTF2F2, GTF3A, HMGB1, HTR2A, ING1, PDX1, KPNA3, IPO5, LAMP1, LCP1, LIG4, LMO7, MAB21L1, SMAD9, MIPEP, NEK3, PABPC3, PCCA, PCDH8, PCDH9, UBL3, POU4F1, DNAJC3, RAP2A, RB1, RFC3, RFXAP, GRK1, RNF6, RPL21, ATXN8OS, SGCG, SLC7A1, SLC10A2, SLC15A1, SOX1, TFDP1, TPP2, TPT1, TRPC4, TUBA3C, UCHL3, ZIC2, ZMYM2, IFT88, STK24, CUL4A, TNFSF11, IRS2, SCEL, SUCLA2, DLEU2, TSC22D1, PROZ, ARHGEF7, CDC16, CCNA1, CLDN10, MTMR6, DCLK1, ZMYM5, ITGBL1, KL, TM9SF2, ITM2B, MTRF1, UTP14C, NUP58, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFPL6, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, CNMD, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPART, LRCH1, ATP11A, MCF2L, MTUS2, DOCK9, TGDS, SLITRK5, FBXL3, SACS, INTS6, LATS2, CKAP2, NUFIP1, SNORD102, NBEA, OXGR1, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, POLR1D, CRYL1, PHF11, POMP, UFM1, ATP8A2, IL17D, NDFIP2, MPHOSPH8, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, PSPC1, NUDT15, GPALPP1, TNFRSF19, SUPT20H, ANKRD10, RAB20, NAXD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, POGLUT2, CARS2, OBI1, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, RUBCNL, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, TPTE2, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, N4BP2L2-IT2, TEX29, NRAD1, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00355, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, UBE2L5, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, CBY2, DLEU7, FAM124A, LRRC63, EEF1AKMT1, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, PRECSIT, LINC00550, CHAMP1, SIAH3, KCNRG, TMEM272, SLC46A3, UBAC2, LINC00347, C1QTNF9, FREM2, NEK5, TMEM255B, LINC00442, KCTD4, RASL11A, C1QTNF9B, SHISA2, NHLRC3, SERP2, SERTM1, LINC00547, LINC00548, TUSC8, ATP11AUN, MIR15A, MIR16-1, MIR17, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, MIR17HG, LINC00544, LINC00545, ALG11, MZT1, PCOTH, SNORA27, TSC22D1-AS1, MIR4500HG, LINC00452, CCDC168, URAD, ZAR1L, LINC00598, C13orf42, SERPINE3, LOC647264, GAS6-AS1, SNORA31, MIR621, MIR622, MIR623, LINC00460, NALF1, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, ACOD1, LOC780529, LOC100129307, LINC00462, COL4A2-AS2, LINC00552, FKSG29, LINC00543, LINC00426, TRE-TTC2-1, TRN-GTT2-4, TRF-GAA1-5, TRE-TTC1-2, TPT1-AS1, LINC00421, LOC100288208, PAN3-AS1, DNAJC3-DT, UBAC2-AS1, MCF2L-AS1, MIR1297, MIR1267, MIR759, MIR2276, MIR320D1, MIR4306, MIR3168, MIR3170, MIR4305, MIR3169, MIR3665, MIR3613, ANKRD10-IT1, EDNRB-AS1, RBM26-AS1, SOX1-OT, LOC100506016, GAS6-DT, LINC00540, SACS-AS1, LINC00327, TEX26-AS1, FRY-AS1, LINC00445, SPART-AS1, VWA8-AS1, INTS6-AS1, LINC00458, SOX21-AS1, LINC00402, C13orf46, CPB2-AS1, CCDC169-SOHLH2, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4704, MIR4502, MIR4705, MIR548X2, MIR4499, MIR4703, LINC00408, LINC00539, MIR5007, MIR5693, MIR5006, MIR548AR, MIR548AS, DOCK9-DT, LINC00554, LINC00557, LINC00561, LINC00564, LINC00566, LINC00562, PLUT, LINC00558, LINC00560, LINC00563, LINC00565, LINC00572, RB1-DT, MED4-AS1, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, LINC00297, CLYBL-AS2, PCDH9-AS2, MYO16-AS2, GRTP1-AS1, STK24-AS1, USP12-AS1, USP12-AS2, FREM2-AS1, DLEU7-AS1, FGF14-AS1, HTR2A-AS1, PCDH9-AS3, PCDH9-AS4, DOCK9-AS1, MTUS2-AS1, LINC00331, LINC00332, LINC00333, ENOX1-AS2, LINC00350, LINC00351, LINC00353, LINC00358, LINC00364, LINC00365, LINC00366, LINC00379, LINC00381, LINC00392, LINC00393, LINC00395, LINC00398, LINC00400, LINC00411, LINC00423, LINC00433, LINC00434, LINC00440, LINC00443, LINC00446, LINC00448, LINC00454
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059855
5.
GRCh37:
Chr13:19436286-115107733
GRCh38:
Chr13:18862146-114342258
ABCC4, ABHD13, ACOD1, ADPRHL1, AKAP11, ALG11, ALG5, ALOX5AP, AMER2, ANKRD10, ANKRD10-IT1, ARGLU1, ARHGEF7, ARHGEF7-AS1, ARHGEF7-AS2, ARL11, ATP11A, ATP11A-AS1, ATP11AUN, ATP12A, ATP4B, ATP7B, ATP8A2, ATXN8OS, B3GLCT, BIVM, BIVM-ERCC5, BORA, BRCA2, C13orf42, C13orf46, C1QTNF9, C1QTNF9B, CAB39L, CARS2, CBY2, CCDC122, CCDC168, CCDC169, CCDC169-SOHLH2, CCDC70, CCNA1, CDADC1, CDC16, CDK8, CDX2, CENPJ, CFAP97D2, CHAMP1, CKAP2, CLDN10, CLDN10-AS1, CLN5, CLYBL, CLYBL-AS1, CLYBL-AS2, CNMD, COG3, COG6, COL4A1, COL4A2, COL4A2-AS1, COL4A2-AS2, COMMD6, CPB2, CPB2-AS1, CRYL1, CSNK1A1L, CUL4A, CYSLTR2, DACH1, DAOA, DAOA-AS1, DCLK1, DCT, DCUN1D2, DGKH, DHRS12, DIAPH3, DIAPH3-AS1, DIAPH3-AS2, DIS3, DLEU1, DLEU1-AS1, DLEU2, DLEU7, DLEU7-AS1, DNAJC15, DNAJC3, DNAJC3-DT, DOCK9, DOCK9-AS1, DOCK9-DT, DZIP1, EBPL, EDNRB, EDNRB-AS1, EEF1AKMT1, EFNB2, ELF1, ENOX1, ENOX1-AS2, EPSTI1, ERCC5, ERICH6B, ESD, EXOSC8, F10, F10-AS1, F7, FAM124A, FAM216B, FARP1, FBXL3, FGF14, FGF14-AS1, FGF14-AS2, FGF14-IT1, FGF9, FKSG29, FLT1, FLT3, FNDC3A, FOXO1, FREM2, FREM2-AS1, FRY, FRY-AS1, GAS6, GAS6-AS1, GAS6-DT, GGACT, GJA3, GJB2, GJB6, GPALPP1, GPC5, GPC5-AS1, GPC5-AS2, GPC6, GPC6-AS1, GPC6-AS2, GPR12, GPR18, GPR180, GPR183, GRK1, GRTP1, GRTP1-AS1, GSX1, GTF2F2, GTF3A, HMGB1, HNRNPA1L2, HS6ST3, HSPH1, HTR2A, HTR2A-AS1, IFT88, IL17D, ING1, INTS6, INTS6-AS1, IPO5, IRS2, ITGBL1, ITM2B, KATNAL1, KBTBD6, KBTBD7, KCNRG, KCTD12, KCTD4, KL, KLF12, KLF5, KLHL1, KPNA3, LACC1, LAMP1, LATS2, LCP1, LHFPL6, LIG4, LINC00297, LINC00327, LINC00330, LINC00331, LINC00332, LINC00333, LINC00343, LINC00345, LINC00347, LINC00348, LINC00350, LINC00351, LINC00353, LINC00354, LINC00355, LINC00358, LINC00359, LINC00363, LINC00364, LINC00365, LINC00366, LINC00367, LINC00368, LINC00370, LINC00373, LINC00374, LINC00375, LINC00376, LINC00377, LINC00378, LINC00379, LINC00380, LINC00381, LINC00382, LINC00383, LINC00384, LINC00385, LINC00390, LINC00391, LINC00392, LINC00393, LINC00395, LINC00396, LINC00397, LINC00398, LINC00399, LINC00400, LINC00402, LINC00407, LINC00408, LINC00410, LINC00411, LINC00412, LINC00415, LINC00421, LINC00423, LINC00424, LINC00426, LINC00428, LINC00430, LINC00431, LINC00433, LINC00434, LINC00437, LINC00440, LINC00442, LINC00443, LINC00444, LINC00445, LINC00446, LINC00448, LINC00449, LINC00452, LINC00454, LINC00456, LINC00457, LINC00458, LINC00459, LINC00460, LINC00462, LINC00463, LINC00539, LINC00540, LINC00543, LINC00544, LINC00545, LINC00547, LINC00548, LINC00550, LINC00551, LINC00552, LINC00554, LINC00557, LINC00558, LINC00559, LINC00560, LINC00561, LINC00562, LINC00563, LINC00564, LINC00565, LINC00566, LINC00567, LINC00571, LINC00572, LINC00598, LINC00621, LINC00676, LINC01038, LINC01039, LINC01040, LINC01043, LINC01044, LINC01046, LINC01047, LINC01048, LINC01049, LINC01050, LINC01052, LINC01053, LINC01054, LINC01055, LINC01058, LINC01065, LINC01068, LINC01069, LINC01070, LINC01072, LINC01074, LINC01075, LINC01077, LINC01078, LINC01080, LINC01198, LINC01232, LINC01309, LINC01442, LINC02333, LINC02336, LINC02337, LINC02338, LINC02339, LINC02340, LINC02341, LINC02343, LINC02344, LMO7, LMO7-AS1, LMO7DN, LMO7DN-IT1, LNX2, LOC100129307, LOC100288208, LOC100506016, LOC101060553, LOC101927284, LOC101927437, LOC101928697, LOC101928730, LOC101928764, LOC101928841, LOC101929140, LOC101929259, LOC101929657, LOC102723345, LOC102723968, LOC105370203, LOC105370268, LOC105370295, LOC105370361, LOC105370362, LOC105376684, LOC106721785, LOC106783494, LOC107457599, LOC107882127, LOC107882129, LOC107984132, LOC107992391, LOC108175343, LOC108281153, LOC108318668, LOC109461478, LOC109580097, LOC110008580, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120855, LOC110120881, LOC110120889, LOC110120891, LOC110120897, LOC110120909, LOC110120930, LOC110120933, LOC110120945, LOC110120946, LOC110120950, LOC110121336, LOC110121346, LOC110121347, LOC110121359, LOC110121360, LOC110121375, LOC110121384, LOC110121400, LOC110121473, LOC111365190, LOC111429622, LOC111562370, LOC112163637, LOC112163638, LOC112163639, LOC112163640, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC112163647, LOC112163648, LOC112163649, LOC112163650, LOC112163651, LOC112163652, LOC112163653, LOC112163654, LOC112163655, LOC112163656, LOC112163657, LOC112163658, LOC112163662, LOC112163663, LOC112163664, LOC112163665, LOC112163666, LOC112163667, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC112163672, LOC112163674, LOC112163675, LOC112163676, LOC112267897, LOC112268114, LOC113939938, LOC113939939, LOC116268454, LOC116268455, LOC116268456, LOC116268457, LOC647264, LOC780529, LPAR6, LRCH1, LRRC63, MAB21L1, MBNL2, MCF2L, MCF2L-AS1, MED4, MED4-AS1, MEDAG, METTL21C, MICU2, MIPEP, MIR1267, MIR1297, MIR15A, MIR16-1, MIR17, MIR17HG, MIR18A, MIR19A, MIR19B1, MIR20A, MIR2276, MIR2681, MIR3168, MIR3169, MIR3170, MIR320D1, MIR3613, MIR3665, MIR4305, MIR4306, MIR4499, MIR4500, MIR4500HG, MIR4501, MIR4502, MIR4703, MIR4704, MIR4705, MIR5006, MIR5007, MIR548AR, MIR548AS, MIR548X2, MIR5693, MIR621, MIR622, MIR623, MIR759, MIR8073, MIR8075, MIR8079, MIR92A1, MLNR, MPHOSPH8, MRPL57, MRPS31, MTIF3, MTMR6, MTRF1, MTUS2, MTUS2-AS1, MYCBP2, MYCBP2-AS1, MYCBP2-AS2, MYO16, MYO16-AS1, MYO16-AS2, MZT1, N4BP2L1, N4BP2L2, N4BP2L2-IT2, NAA16, NALCN, NALCN-AS1, NALF1, NALF1-IT1, NAXD, NBEA, NDFIP2, NDFIP2-AS1, NEK3, NEK5, NHLRC3, NRAD1, NUDT15, NUFIP1, NUP58, OBI1, OBI1-AS1, OLFM4, OXGR1, PABPC3, PAN3, PAN3-AS1, PARP4, PCCA, PCCA-AS1, PCCA-DT, PCDH17, PCDH20, PCDH8, PCDH9, PCDH9-AS2, PCDH9-AS3, PCDH9-AS4, PCID2, PCOTH, PDS5B, PDX1, PHF11, PIBF1, PLUT, POGLUT2, POLR1D, POMP, POSTN, POU4F1, PRECSIT, PROSER1, PROZ, PRR20A, PRR20B, PRR20C, PRR20D, PRR20E, PSPC1, RAB20, RAP2A, RASA3, RASA3-IT1, RASL11A, RB1, RB1-DT, RBM26, RBM26-AS1, RCBTB1, RCBTB2, RFC3, RFXAP, RGCC, RNASEH2B, RNASEH2B-AS1, RNF113B, RNF17, RNF6, RPL21, RUBCNL, RXFP2, SACS, SACS-AS1, SAP18, SCEL, SCEL-AS1, SERP2, SERPINE3, SERTM1, SETDB2, SETDB2-PHF11, SGCG, SHISA2, SIAH3, SKA3, SLAIN1, SLC10A2, SLC15A1, SLC25A15, SLC25A30, SLC25A30-AS1, SLC46A3, SLC7A1, SLITRK1, SLITRK5, SLITRK6, SMAD9, SMIM2, SMIM2-AS1, SMIM2-IT1, SNORA107, SNORA27, SNORA31, SNORA31B, SNORD102, SNORD13G, SNORD31B, SOHLH2, SOX1, SOX1-OT, SOX21, SOX21-AS1, SPACA7, SPART, SPART-AS1, SPATA13, SPATA13-AS1, SPRY2, SPRYD7, STARD13, STARD13-AS, STK24, STK24-AS1, STOML3, SUCLA2, SUCLA2-AS1, SUGT1, SUGT1-DT, SUPT20H, TBC1D4, TDRD3, TEX26, TEX26-AS1, TEX29, TEX30, TFDP1, TGDS, THSD1, TM9SF2, TMCO3, TMEM255B, TMEM272, TMTC4, TNFRSF19, TNFSF11, TNFSF13B, TPP2, TPT1, TPT1-AS1, TPTE2, TRE-TTC1-2, TRE-TTC2-1, TRF-GAA1-5, TRIM13, TRN-GTT2-4, TRPC4, TSC22D1, TSC22D1-AS1, TUBA3C, TUBGCP3, TUSC8, UBAC2, UBAC2-AS1, UBE2L5, UBL3, UCHL3, UFM1, UGGT2, UPF3A, URAD, USP12, USP12-AS1, USP12-DT, USPL1, UTP14C, VPS36, VWA8, VWA8-AS1, WASF3, WBP4, WDFY2, XPO4, ZAR1L, ZC3H13, ZDHHC20, ZIC2, ZIC5, ZMYM2, ZMYM5
See casesPathogenic
(Jun 18, 2013)
no assertion criteria providedVCV000155395
6.
GRCh37:
Chr13:19520322-115070103
GRCh38:
Chr13:18946182-114304628
LOC112163656, LOC112163657, LOC112163658, LOC112163662, LOC112163663, LOC112163664, LOC112163665, LOC112163666, LOC112163667, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC112163672, LOC112163674, LOC112163675, LOC112163676, LOC112267897, LOC112268114, LOC113939938, LOC113939939, LOC116268454, LOC116268455, LOC116268456, LOC116268457, SUGT1-DT, PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, CDK8, CDX2, RCBTB2, CLN5, COL4A1, COL4A2, CPB2, DACH1, DCT, GPR183, EDNRB, EFNB2, ELF1, ERCC5, ESD, F7, F10, FGF9, FGF14, GPC5, FOXO1, FLT1, FLT3, GAS6, GJA3, GJB2, GPR12, GPR18, MLNR, GTF2F2, GTF3A, HMGB1, HTR2A, ING1, PDX1, KPNA3, IPO5, LAMP1, LCP1, LIG4, LMO7, MAB21L1, SMAD9, MIPEP, NEK3, PABPC3, PCCA, PCDH8, PCDH9, UBL3, POU4F1, DNAJC3, RAP2A, RB1, RFC3, RFXAP, GRK1, RNF6, RPL21, ATXN8OS, SGCG, SLC7A1, SLC10A2, SLC15A1, SOX1, TFDP1, TPP2, TPT1, TRPC4, TUBA3C, UCHL3, ZIC2, ZMYM2, IFT88, STK24, CUL4A, TNFSF11, IRS2, SCEL, SUCLA2, DLEU2, TSC22D1, PROZ, ARHGEF7, CDC16, CCNA1, CLDN10, MTMR6, DCLK1, ZMYM5, ITGBL1, KL, TM9SF2, ITM2B, MTRF1, UTP14C, NUP58, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFPL6, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, CNMD, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPART, LRCH1, ATP11A, MCF2L, MTUS2, DOCK9, TGDS, SLITRK5, FBXL3, SACS, INTS6, LATS2, CKAP2, NUFIP1, SNORD102, NBEA, OXGR1, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, POLR1D, CRYL1, PHF11, POMP, UFM1, ATP8A2, IL17D, NDFIP2, MPHOSPH8, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, PSPC1, NUDT15, GPALPP1, TNFRSF19, SUPT20H, ANKRD10, RAB20, NAXD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, POGLUT2, CARS2, OBI1, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, RUBCNL, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, TPTE2, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, N4BP2L2-IT2, TEX29, NRAD1, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00355, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, UBE2L5, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, CBY2, DLEU7, FAM124A, LRRC63, EEF1AKMT1, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, PRECSIT, SIAH3, KCNRG, TMEM272, SLC46A3, UBAC2, LINC00550, LINC00347, C1QTNF9, FREM2, NEK5, TMEM255B, LINC00442, KCTD4, RASL11A, C1QTNF9B, SHISA2, NHLRC3, SERP2, SERTM1, LINC00547, LINC00548, TUSC8, ATP11AUN, MIR15A, MIR16-1, MIR17, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, MIR17HG, LINC00544, LINC00545, ALG11, MZT1, PCOTH, SNORA27, TSC22D1-AS1, MIR4500HG, LINC00452, CCDC168, URAD, ZAR1L, LINC00598, C13orf42, SERPINE3, LOC647264, GAS6-AS1, SNORA31, MIR621, MIR622, MIR623, LINC00460, NALF1, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, ACOD1, LOC780529, LOC100129307, LINC00462, COL4A2-AS2, LINC00552, FKSG29, LINC00543, LINC00426, TRE-TTC2-1, TRN-GTT2-4, TRF-GAA1-5, TRE-TTC1-2, TPT1-AS1, LINC00421, LOC100288208, PAN3-AS1, DNAJC3-DT, UBAC2-AS1, MCF2L-AS1, MIR1297, MIR1267, MIR759, MIR2276, MIR320D1, MIR4306, MIR3168, MIR3170, MIR4305, MIR3169, MIR3665, MIR3613, ANKRD10-IT1, EDNRB-AS1, RBM26-AS1, SOX1-OT, LOC100506016, GAS6-DT, LINC00540, SACS-AS1, LINC00327, TEX26-AS1, FRY-AS1, LINC00445, SPART-AS1, VWA8-AS1, INTS6-AS1, LINC00458, SOX21-AS1, LINC00402, C13orf46, CPB2-AS1, CCDC169-SOHLH2, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4704, MIR4502, MIR4705, MIR548X2, MIR4499, MIR4703, LINC00539, MIR5007, MIR5693, MIR5006, MIR548AR, MIR548AS, DOCK9-DT, LINC00554, LINC00557, LINC00561, LINC00564, LINC00566, LINC00562, PLUT, LINC00558, LINC00560, LINC00563, LINC00565, LINC00572, RB1-DT, MED4-AS1, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, LINC00297, CLYBL-AS2, PCDH9-AS2, MYO16-AS2, GRTP1-AS1, STK24-AS1, USP12-AS1, USP12-AS2, FREM2-AS1, DLEU7-AS1, FGF14-AS1, HTR2A-AS1, PCDH9-AS3, PCDH9-AS4, DOCK9-AS1, MTUS2-AS1, LINC00331, LINC00332, LINC00333, ENOX1-AS2, LINC00350, LINC00351, LINC00353, LINC00358, LINC00364, LINC00365, LINC00366, LINC00379, LINC00381, LINC00392, LINC00393, LINC00395, LINC00398, LINC00400, LINC00411, LINC00423, LINC00433, LINC00434, LINC00440, LINC00443, LINC00446, LINC00448, LINC00454, LINC00457, LINC00459, LINC00424, LINC00559, LINC00571, CLDN10-AS1, DIAPH3-AS1, DIAPH3-AS2, COL4A2-AS1, ATP11A-AS1, NDFIP2-AS1, MYCBP2-AS1, MYCBP2-AS2, OBI1-AS1, ARHGEF7-AS1, SPATA13-AS1, ARHGEF7-AS2, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, RASA3-IT1, NALF1-IT1, SMIM2-IT1, PCCA-AS1, NALCN-AS1, LINC00348, MYO16-AS1, LINC00359, LINC00621, LOC101060553, LINC00676, LINC01080, LINC02338, LINC00378, LINC02339, LMO7-AS1, LINC01069, LINC00382, LINC01049, LINC00391, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LOC101928697, LINC01070, LOC101928730, LINC01043, LOC101928764, LOC101928841, LINC00463, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, CFAP97D2, SUCLA2-AS1, LOC101929657, LINC00380, LINC00367, LINC00397, LINC00384, MIR8073, MIR8075, MIR8079, LINC01053, LINC00412, LOC102723345, LINC01065, LOC102723968, LINC01038, LINC01232, LINC02333, LINC01442, LINC00456, LINC01046, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01058, LINC01068, LINC01055, LINC01075, LINC01044, LINC00363, LINC00399, LMO7DN-IT1, LINC01309, LINC00431, LINC01072, LINC00375, LINC00396, LINC00428, LINC01039, LINC00376, SCEL-AS1, F10-AS1, LINC02340, LINC00385, LINC02344, LINC02343, LINC02341, LINC00390, LOC105370203, LINC00345, LINC01052, LOC105370268, LOC105370295, LINC00373, LINC01040, LINC02336, PCCA-DT, LINC00370, LOC105370361, LOC105370362, LINC02337, LOC105376684, LINC01047, LINC00374, LINC00430, LINC01078, LINC00407, LINC01074, LINC00449, SNORA107, LOC106721785, LOC106783494, LINC01077, SETDB2-PHF11, LOC107457599, LOC107882127, LOC107882129, LINC00415, LOC107984132, LINC00444, LOC107992391, LOC108175343, LOC108281153, LOC108318668, LOC109461478, LOC109580097, SNORA31B, SNORD31B, SNORD13G, LOC110008580, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120855, LOC110120881, LOC110120889, LOC110120891, LOC110120897, LOC110120909, LOC110120930, LOC110120933, LOC110120945, LOC110120946, LOC110120950, LOC110121336, LOC110121346, LOC110121347, LOC110121359, LOC110121360, LOC110121375, LOC110121384, LOC110121400, LOC110121473, LOC111365190, LOC111429622, LOC111562370, LOC112163637, LOC112163638, LOC112163639, LOC112163640, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC112163647, LOC112163648, LOC112163649, LOC112163650, LOC112163651, LOC112163652, LOC112163653, LOC112163654, LOC112163655
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059858
7.
GRCh37:
Chr13:20246074-115085141
GRCh38:
Chr13:19671934-114340331
AKAP11, ALG11, ALG5, ALOX5AP, AMER2, ANKRD10, ANKRD10-IT1, ARGLU1, ARHGEF7, ARHGEF7-AS1, ARHGEF7-AS2, ARL11, ATP11A, ATP11A-AS1, ATP11AUN, ATP12A, ATP4B, ATP7B, ATP8A2, ATXN8OS, B3GLCT, BIVM, BIVM-ERCC5, BORA, BRCA2, C13orf42, C13orf46, C1QTNF9, C1QTNF9B, CAB39L, CARS2, CBY2, CCDC122, CCDC168, CCDC169, CCDC169-SOHLH2, CCDC70, CCNA1, CDADC1, CDC16, CDK8, CDX2, CENPJ, CFAP97D2, CHAMP1, CKAP2, CLDN10, CLDN10-AS1, CLN5, CLYBL, CLYBL-AS1, CLYBL-AS2, CNMD, COG3, COG6, COL4A1, COL4A2, COL4A2-AS1, COL4A2-AS2, COMMD6, CPB2, CPB2-AS1, CRYL1, CSNK1A1L, CUL4A, CYSLTR2, DACH1, DAOA, DAOA-AS1, DCLK1, DCT, DCUN1D2, DGKH, DHRS12, DIAPH3, DIAPH3-AS1, DIAPH3-AS2, DIS3, DLEU1, DLEU1-AS1, DLEU2, DLEU7, DLEU7-AS1, DNAJC15, DNAJC3, DNAJC3-DT, DOCK9, DOCK9-AS1, DOCK9-DT, DZIP1, EBPL, EDNRB, EDNRB-AS1, EEF1AKMT1, EFNB2, ELF1, ENOX1, ENOX1-AS2, EPSTI1, ERCC5, ERICH6B, ESD, EXOSC8, F10, F10-AS1, F7, FAM124A, FAM216B, FARP1, FBXL3, FGF14, FGF14-AS1, FGF14-AS2, FGF14-IT1, FGF9, FKSG29, FLT1, FLT3, FNDC3A, FOXO1, FREM2, FREM2-AS1, FRY, FRY-AS1, GAS6, GAS6-AS1, GAS6-DT, GGACT, GJA3, GJB2, GJB6, GPALPP1, GPC5, GPC5-AS1, GPC5-AS2, GPC6, GPC6-AS1, GPC6-AS2, GPR12, GPR18, GPR180, GPR183, GRK1, GRTP1, GRTP1-AS1, GSX1, GTF2F2, GTF3A, HMGB1, HNRNPA1L2, HS6ST3, HSPH1, HTR2A, HTR2A-AS1, IFT88, IL17D, ING1, INTS6, INTS6-AS1, IPO5, IRS2, ITGBL1, ITM2B, KATNAL1, KBTBD6, KBTBD7, KCNRG, KCTD12, KCTD4, KL, KLF12, KLF5, KLHL1, KPNA3, LACC1, LAMP1, LATS2, LCP1, LHFPL6, LIG4, LINC00297, LINC00327, LINC00330, LINC00331, LINC00332, LINC00333, LINC00343, LINC00345, LINC00347, LINC00348, LINC00351, LINC00353, LINC00354, LINC00355, LINC00358, LINC00359, LINC00363, LINC00364, LINC00365, LINC00366, LINC00367, LINC00368, LINC00370, LINC00373, LINC00374, LINC00375, LINC00376, LINC00377, LINC00378, LINC00379, LINC00380, LINC00381, LINC00382, LINC00383, LINC00384, LINC00385, LINC00390, LINC00391, LINC00392, LINC00393, LINC00395, LINC00396, LINC00397, LINC00398, LINC00399, LINC00400, LINC00402, LINC00407, LINC00410, LINC00411, LINC00412, LINC00415, LINC00423, LINC00424, LINC00426, LINC00428, LINC00430, LINC00431, LINC00433, LINC00434, LINC00437, LINC00440, LINC00443, LINC00444, LINC00445, LINC00446, LINC00448, LINC00449, LINC00452, LINC00454, LINC00456, LINC00457, LINC00458, LINC00459, LINC00460, LINC00462, LINC00463, LINC00539, LINC00540, LINC00543, LINC00544, LINC00545, LINC00547, LINC00548, LINC00550, LINC00551, LINC00552, LINC00554, LINC00557, LINC00558, LINC00559, LINC00560, LINC00561, LINC00562, LINC00563, LINC00564, LINC00565, LINC00566, LINC00567, LINC00571, LINC00572, LINC00598, LINC00621, LINC00676, LINC01038, LINC01039, LINC01040, LINC01043, LINC01044, LINC01046, LINC01047, LINC01048, LINC01049, LINC01050, LINC01052, LINC01053, LINC01054, LINC01055, LINC01058, LINC01065, LINC01068, LINC01069, LINC01070, LINC01072, LINC01074, LINC01075, LINC01077, LINC01078, LINC01080, LINC01198, LINC01232, LINC01309, LINC01442, LINC02333, LINC02336, LINC02337, LINC02338, LINC02339, LINC02340, LINC02341, LINC02343, LINC02344, LMO7, LMO7-AS1, LMO7DN, LMO7DN-IT1, LNX2, LOC100129307, LOC100288208, LOC100506016, LOC101060553, LOC101927284, LOC101927437, LOC101928730, LOC101928764, LOC101928841, LOC101929140, LOC101929259, LOC101929657, LOC102723345, LOC102723968, LOC105370203, LOC105370268, LOC105370295, LOC105370361, LOC105370362, LOC105376684, LOC106721785, LOC106783494, LOC107457599, LOC107882127, LOC107882129, LOC107992391, LOC108175343, LOC108281153, LOC108318668, LOC109461478, LOC109580097, LOC110008580, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120855, LOC110120881, LOC110120889, LOC110120891, LOC110120897, LOC110120909, LOC110120930, LOC110120933, LOC110120945, LOC110120946, LOC110120950, LOC110121336, LOC110121346, LOC110121347, LOC110121359, LOC110121360, LOC110121375, LOC110121384, LOC110121400, LOC110121473, LOC111365190, LOC111429622, LOC111562370, LOC112163637, LOC112163638, LOC112163639, LOC112163640, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC112163647, LOC112163648, LOC112163649, LOC112163650, LOC112163651, LOC112163652, LOC112163653, LOC112163654, LOC112163655, LOC112163656, LOC112163657, LOC112163658, LOC112163662, LOC112163663, LOC112163664, LOC112163665, LOC112163666, LOC112163667, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC112163672, LOC112163674, LOC112163675, LOC112163676, LOC112267897, LOC112268114, LOC113939938, LOC113939939, LOC116268454, LOC116268455, LOC116268456, LOC116268457, LOC647264, LOC780529, LPAR6, LRCH1, LRRC63, MAB21L1, MBNL2, MCF2L, MCF2L-AS1, MED4, MED4-AS1, MEDAG, METTL21C, MICU2, MIPEP, MIR1267, MIR1297, MIR15A, MIR16-1, MIR17, MIR17HG, MIR18A, MIR19A, MIR19B1, MIR20A, MIR2276, MIR2681, MIR3168, MIR3169, MIR3170, MIR320D1, MIR3613, MIR3665, MIR4305, MIR4306, MIR4499, MIR4500, MIR4500HG, MIR4501, MIR4502, MIR4703, MIR4704, MIR4705, MIR5006, MIR5007, MIR548AR, MIR548AS, MIR548X2, MIR5693, MIR621, MIR622, MIR623, MIR759, MIR8073, MIR8075, MIR8079, MIR92A1, MLNR, MPHOSPH8, MRPL57, MRPS31, MTIF3, MTMR6, MTRF1, MTUS2, MTUS2-AS1, MYCBP2, MYCBP2-AS1, MYCBP2-AS2, MYO16, MYO16-AS1, MYO16-AS2, MZT1, N4BP2L1, N4BP2L2, N4BP2L2-IT2, NAA16, NALCN, NALCN-AS1, NALF1, NALF1-IT1, NAXD, NBEA, NDFIP2, NDFIP2-AS1, NEK3, NEK5, NHLRC3, NRAD1, NUDT15, NUFIP1, NUP58, OBI1, OBI1-AS1, OLFM4, OXGR1, PABPC3, PAN3, PAN3-AS1, PARP4, PCCA, PCCA-AS1, PCCA-DT, PCDH17, PCDH20, PCDH8, PCDH9, PCDH9-AS2, PCDH9-AS3, PCDH9-AS4, PCID2, PCOTH, PDS5B, PDX1, PHF11, PIBF1, PLUT, POGLUT2, POLR1D, POMP, POSTN, POU4F1, PRECSIT, PROSER1, PROZ, PRR20A, PRR20B, PRR20C, PRR20D, PRR20E, PSPC1, RAB20, RAP2A, RASA3, RASA3-IT1, RASL11A, RB1, RB1-DT, RBM26, RBM26-AS1, RCBTB1, RCBTB2, RFC3, RFXAP, RGCC, RNASEH2B, RNASEH2B-AS1, RNF113B, RNF17, RNF6, RPL21, RUBCNL, RXFP2, SACS, SACS-AS1, SAP18, SCEL, SCEL-AS1, SERP2, SERPINE3, SERTM1, SETDB2, SETDB2-PHF11, SGCG, SHISA2, SIAH3, SKA3, SLAIN1, SLC10A2, SLC15A1, SLC25A15, SLC25A30, SLC25A30-AS1, SLC46A3, SLC7A1, SLITRK1, SLITRK5, SLITRK6, SMAD9, SMIM2, SMIM2-AS1, SMIM2-IT1, SNORA107, SNORA27, SNORA31, SNORA31B, SNORD102, SNORD13G, SNORD31B, SOHLH2, SOX1, SOX1-OT, SOX21, SOX21-AS1, SPACA7, SPART, SPART-AS1, SPATA13, SPATA13-AS1, SPRY2, SPRYD7, STARD13, STARD13-AS, STK24, STK24-AS1, STOML3, SUCLA2, SUCLA2-AS1, SUGT1, SUGT1-DT, SUPT20H, TBC1D4, TDRD3, TEX26, TEX26-AS1, TEX29, TEX30, TFDP1, TGDS, THSD1, TM9SF2, TMCO3, TMEM255B, TMEM272, TMTC4, TNFRSF19, TNFSF11, TNFSF13B, TPP2, TPT1, TPT1-AS1, TRE-TTC1-2, TRE-TTC2-1, TRF-GAA1-5, TRIM13, TRN-GTT2-4, TRPC4, TSC22D1, TSC22D1-AS1, TUBGCP3, TUSC8, UBAC2, UBAC2-AS1, UBE2L5, UBL3, UCHL3, UFM1, UGGT2, UPF3A, URAD, USP12, USP12-AS1, USP12-DT, USPL1, UTP14C, VPS36, VWA8, VWA8-AS1, WASF3, WBP4, WDFY2, XPO4, ZAR1L, ZC3H13, ZDHHC20, ZIC2, ZIC5, ZMYM2, ZMYM5, ABCC4, ABHD13, ACOD1, ADPRHL1
See casesPathogenic
(Nov 26, 2012)
no assertion criteria providedVCV000154857
8.
GRCh37:
Chr13:20407270-115085141
GRCh38:
Chr13:19833130-114327106
EDNRB-AS1, EEF1AKMT1, EFNB2, ELF1, ENOX1, ENOX1-AS2, EPSTI1, ERCC5, ERICH6B, ESD, EXOSC8, F10, F10-AS1, F7, FAM124A, FAM216B, FARP1, FBXL3, FGF14, FGF14-AS1, FGF14-AS2, FGF14-IT1, FGF9, FKSG29, FLT1, FLT3, FNDC3A, FOXO1, FREM2, FREM2-AS1, FRY, FRY-AS1, GAS6, GAS6-AS1, GAS6-DT, GGACT, GJA3, GJB2, GJB6, GPALPP1, GPC5, GPC5-AS1, GPC5-AS2, GPC6, GPC6-AS1, GPC6-AS2, GPR12, GPR18, GPR180, GPR183, GRK1, GRTP1, GRTP1-AS1, GSX1, GTF2F2, GTF3A, HMGB1, HNRNPA1L2, HS6ST3, HSPH1, HTR2A, HTR2A-AS1, IFT88, IL17D, ING1, INTS6, INTS6-AS1, IPO5, IRS2, ITGBL1, ITM2B, KATNAL1, KBTBD6, KBTBD7, KCNRG, KCTD12, KCTD4, KL, KLF12, KLF5, KLHL1, KPNA3, LACC1, LAMP1, LATS2, LCP1, LHFPL6, LIG4, LINC00297, LINC00327, LINC00330, LINC00331, LINC00332, LINC00333, LINC00343, LINC00345, LINC00347, LINC00348, LINC00351, LINC00353, LINC00354, LINC00355, LINC00358, LINC00359, LINC00363, LINC00364, LINC00365, LINC00366, LINC00367, LINC00368, LINC00370, LINC00373, LINC00374, LINC00375, LINC00376, LINC00377, LINC00378, LINC00379, LINC00380, LINC00381, LINC00382, LINC00383, LINC00384, LINC00385, LINC00390, LINC00391, LINC00392, LINC00393, LINC00395, LINC00396, LINC00397, LINC00398, LINC00399, LINC00400, LINC00402, LINC00407, LINC00410, LINC00411, LINC00412, LINC00415, LINC00423, LINC00424, LINC00426, LINC00428, LINC00430, LINC00431, LINC00433, LINC00434, LINC00437, LINC00440, LINC00443, LINC00444, LINC00445, LINC00446, LINC00448, LINC00449, LINC00452, LINC00454, LINC00456, LINC00457, LINC00458, LINC00459, LINC00460, LINC00462, LINC00463, LINC00539, LINC00540, LINC00543, LINC00544, LINC00545, LINC00547, LINC00548, LINC00550, LINC00551, LINC00552, LINC00554, LINC00557, LINC00558, LINC00559, LINC00560, LINC00561, LINC00562, LINC00563, LINC00564, LINC00565, LINC00566, LINC00567, LINC00571, LINC00572, LINC00598, LINC00621, LINC00676, LINC01038, LINC01039, LINC01040, LINC01043, LINC01044, LINC01046, LINC01047, LINC01048, LINC01049, LINC01050, LINC01052, LINC01053, LINC01055, LINC01058, LINC01065, LINC01068, LINC01069, LINC01070, LINC01072, LINC01074, LINC01075, LINC01077, LINC01078, LINC01080, LINC01198, LINC01232, LINC01309, LINC01442, LINC02333, LINC02336, LINC02337, LINC02338, LINC02339, LINC02340, LINC02341, LINC02343, LINC02344, LMO7, LMO7-AS1, LMO7DN, LMO7DN-IT1, LNX2, LOC100129307, LOC100288208, LOC100506016, LOC101060553, LOC101927284, LOC101927437, LOC101928730, LOC101928764, LOC101928841, LOC101929140, LOC101929259, LOC101929657, LOC102723345, LOC102723968, LOC105370203, LOC105370268, LOC105370295, LOC105370361, LOC105370362, LOC105376684, LOC106721785, LOC106783494, LOC107457599, LOC107882127, LOC107882129, LOC107992391, LOC108175343, LOC108281153, LOC108318668, LOC109461478, LOC109580097, LOC110008580, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120855, LOC110120881, LOC110120889, LOC110120891, LOC110120897, LOC110120909, LOC110120930, LOC110120933, LOC110120945, LOC110120946, LOC110120950, LOC110121336, LOC110121346, LOC110121347, LOC110121359, LOC110121360, LOC110121375, LOC110121384, LOC110121400, LOC110121473, LOC111365190, LOC111429622, LOC111562370, LOC112163637, LOC112163638, LOC112163639, LOC112163640, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC112163647, LOC112163648, LOC112163649, LOC112163650, LOC112163651, LOC112163652, LOC112163653, LOC112163654, LOC112163655, LOC112163656, LOC112163657, LOC112163658, LOC112163662, LOC112163663, LOC112163664, LOC112163665, LOC112163666, LOC112163667, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC112163672, LOC112163674, LOC112163675, LOC112163676, LOC112267897, LOC112268114, LOC113939938, LOC113939939, LOC116268454, LOC116268455, LOC116268456, LOC116268457, LOC647264, LOC780529, LPAR6, LRCH1, LRRC63, MAB21L1, MBNL2, MCF2L, MCF2L-AS1, MED4, MED4-AS1, MEDAG, METTL21C, MICU2, MIPEP, MIR1267, MIR1297, MIR15A, MIR16-1, MIR17, MIR17HG, MIR18A, MIR19A, MIR19B1, MIR20A, MIR2276, MIR2681, MIR3168, MIR3169, MIR3170, MIR320D1, MIR3613, MIR3665, MIR4305, MIR4306, MIR4499, MIR4500, MIR4500HG, MIR4501, MIR4502, MIR4703, MIR4704, MIR4705, MIR5006, MIR5007, MIR548AR, MIR548AS, MIR548X2, MIR5693, MIR621, MIR622, MIR623, MIR759, MIR8073, MIR8075, MIR8079, MIR92A1, MLNR, MRPL57, MRPS31, MTIF3, MTMR6, MTRF1, MTUS2, MTUS2-AS1, MYCBP2, MYCBP2-AS1, MYCBP2-AS2, MYO16, MYO16-AS1, MYO16-AS2, MZT1, N4BP2L1, N4BP2L2, N4BP2L2-IT2, NAA16, NALCN, NALCN-AS1, NALF1, NALF1-IT1, NAXD, NBEA, NDFIP2, NDFIP2-AS1, NEK3, NEK5, NHLRC3, NRAD1, NUDT15, NUFIP1, NUP58, OBI1, OBI1-AS1, OLFM4, OXGR1, PABPC3, PAN3, PAN3-AS1, PARP4, PCCA, PCCA-AS1, PCCA-DT, PCDH17, PCDH20, PCDH8, PCDH9, PCDH9-AS2, PCDH9-AS3, PCDH9-AS4, PCID2, PCOTH, PDS5B, PDX1, PHF11, PIBF1, PLUT, POGLUT2, POLR1D, POMP, POSTN, POU4F1, PRECSIT, PROSER1, PROZ, PRR20A, PRR20B, PRR20C, PRR20D, PRR20E, RAB20, RAP2A, RASA3, RASA3-IT1, RASL11A, RB1, RB1-DT, RBM26, RBM26-AS1, RCBTB1, RCBTB2, RFC3, RFXAP, RGCC, RNASEH2B, RNASEH2B-AS1, RNF113B, RNF17, RNF6, RPL21, RUBCNL, RXFP2, SACS, SACS-AS1, SAP18, SCEL, SCEL-AS1, SERP2, SERPINE3, SERTM1, SETDB2, SETDB2-PHF11, SGCG, SHISA2, SIAH3, SKA3, SLAIN1, SLC10A2, SLC15A1, SLC25A15, SLC25A30, SLC25A30-AS1, SLC46A3, SLC7A1, SLITRK1, SLITRK5, SLITRK6, SMAD9, SMIM2, SMIM2-AS1, SMIM2-IT1, SNORA107, SNORA27, SNORA31, SNORA31B, SNORD102, SNORD13G, SNORD31B, SOHLH2, SOX1, SOX1-OT, SOX21, SOX21-AS1, SPACA7, SPART, SPART-AS1, SPATA13, SPATA13-AS1, SPRY2, SPRYD7, STARD13, STARD13-AS, STK24, STK24-AS1, STOML3, SUCLA2, SUCLA2-AS1, SUGT1, SUGT1-DT, SUPT20H, TBC1D4, TDRD3, TEX26, TEX26-AS1, TEX29, TEX30, TFDP1, TGDS, THSD1, TM9SF2, TMCO3, TMEM255B, TMEM272, TMTC4, TNFRSF19, TNFSF11, TNFSF13B, TPP2, TPT1, TPT1-AS1, TRE-TTC1-2, TRE-TTC2-1, TRF-GAA1-5, TRIM13, TRN-GTT2-4, TRPC4, TSC22D1, TSC22D1-AS1, TUBGCP3, TUSC8, UBAC2, UBAC2-AS1, UBE2L5, UBL3, UCHL3, UFM1, UGGT2, UPF3A, URAD, USP12, USP12-AS1, USP12-DT, USPL1, UTP14C, VPS36, VWA8, VWA8-AS1, WASF3, WBP4, WDFY2, XPO4, ZAR1L, ZC3H13, ZDHHC20, ZIC2, ZIC5, ZMYM2, ZMYM5, ABCC4, ABHD13, ACOD1, ADPRHL1, AKAP11, ALG11, ALG5, ALOX5AP, AMER2, ANKRD10, ANKRD10-IT1, ARGLU1, ARHGEF7, ARHGEF7-AS1, ARHGEF7-AS2, ARL11, ATP11A, ATP11A-AS1, ATP11AUN, ATP12A, ATP4B, ATP7B, ATP8A2, ATXN8OS, B3GLCT, BIVM, BIVM-ERCC5, BORA, BRCA2, C13orf42, C13orf46, C1QTNF9, C1QTNF9B, CAB39L,