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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, 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, 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, LOC121466728, LOC121466729, LOC121466730, LOC121466731, LOC121466732, LOC121466733, LOC121468000, LOC121468001, LOC121468002, LOC121468003, LOC121468004, LOC121468005, LOC121468006, LOC121468007, LOC121838572, LOC121838573, LOC121838574, LOC121838575, LOC121838576, LOC121838577, LOC121838578, LOC121838579, LOC121838580, LOC121838581, LOC121838582, LOC121838583, LOC121838584, 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
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, LOC121466728, LOC121466729, LOC121466730, LOC121466731, LOC121466732, LOC121466733, LOC121468000, LOC121468001, LOC121468002, LOC121468003, LOC121468004, LOC121468005, LOC121468006, LOC121468007, LOC121838572, LOC121838573, LOC121838574, LOC121838575, LOC121838576, LOC121838577, LOC121838578, LOC121838579, LOC121838580, LOC121838581, LOC121838582, LOC121838583, LOC121838584, 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
METTL21C, URAD, LOC121838578, LOC112163644, MPHOSPH8, LINC00558, LINC00412, LINC01052, LOC110120909, DOCK9-DT, LOC121468004, MIR621, SETDB2-PHF11, DGKH, DLEU1-AS1, COL4A2-AS2, UBL3, ATP7B, SCEL-AS1, LINC00359, LINC00445, LINC00347, PCCA-AS1, LINC00367, RB1-DT, RFXAP, RNASEH2B, N4BP2L2-IT2, C1QTNF9B, LINC02336, LINC00426, LOC112163647, LINC01049, LINC00396, COG6, GPC5, BORA, LOC105370268, B3GLCT, PAN3, NALF1-IT1, LINC00358, LINC00598, LINC01065, PRR20D, EFNB2, FKSG29, SUGT1-DT, LINC00368, LOC113939938, TRIM13, GPC6, STOML3, NAA16, LOC112163675, LOC121838584, LINC00332, RBM26-AS1, LOC121838583, MIR1267, LINC00364, LINC00382, ZMYM5, ATP11A-AS1, SOX21, LOC112163639, PRR20A, LOC113939939, LINC00423, MIR3665, LINC00560, LINC00390, SACS-AS1, OBI1-AS1, DIAPH3-AS1, MIR3169, ARHGEF7, CLN5, DZIP1, MEDAG, RAP2A, MIR3170, ATP4B, LOC109580097, LINC00345, PRR20C, LINC00410, FREM2-AS1, VPS36, DCUN1D2, SLC25A15, HNRNPA1L2, LINC00330, TNFSF11, MIR4502, LINC00400, SOX1, VWA8, LOC110120832, LOC110120897, ERICH6B, ELF1, DAOA-AS1, LOC112163670, LINC00559, NEK3, LINC00431, LOC121838577, SLITRK6, DNAJC15, FRY, LOC111429622, TEX30, SMIM2, LOC105370203, SERPINE3, GPC6-AS1, TM9SF2, LOC110120828, ENOX1-AS2, LINC00366, LOC121468005, LOC112163652, POSTN, LOC101928730, LOC112163646, MIR18A, LINC00539, MTIF3, ZMYM2, MIR759, CHAMP1, C1QTNF9, GAS6-AS1, LINC00353, LINC01055, TMCO3, MIR4704, BIVM-ERCC5, LOC100129307, PAN3-AS1, CSNK1A1L, LINC00563, FLT3, SERP2, LINC00571, LINC00378, MIR15A, UTP14C, LOC121838579, UGGT2, MTUS2, PRR20B, ABCC4, TMTC4, LOC101927284, STARD13, KCNRG, LOC112163645, MICU2, PCDH17, LOC110120855, LATS2, MTMR6, KL, C13orf46, COL4A2-AS1, EPSTI1, LINC00460, LOC109461478, LINC00417, LOC112163657, ANKRD10-IT1, LNX2, MIR8073, F10, LINC00350, LOC102723345, LINC00545, LINC00408, MIR5007, LOC107882127, RGCC, LINC01068, FBXL3, LOC107882129, CYSLTR2, TDRD3, SNORA31B, LOC111562370, RASL11A, LINC00676, UBAC2, TSC22D1, LOC121468000, TRPC4, LOC121838580, INTS6, PROZ, PCCA-DT, GJB6, PROSER1, TEX29, LOC101927437, LINC00430, USP12-AS1, LINC02339, POLR1D, SLC7A1, SNORD102, LINC01053, PDS5B, TEX26-AS1, LINC00327, MIR4500HG, RXFP2, MYO16-AS2, SOHLH2, LINC01047, PCDH9, LOC112163672, HTR2A, MIR320D1, LOC102723968, LOC112163649, MIR17HG, LOC112163666, HTR2A-AS1, MIR92A1, GAS6-DT, LINC00365, MIR548AS, LOC121466729, TUBGCP3, LOC112163664, RAB20, RB1, LINC01077, ATP11A, GPR183, SUCLA2-AS1, STK24, LINC00456, LINC01043, LINC00377, MYO16-AS1, DCLK1, ADPRHL1, CFAP97D2, LOC121838575, UPF3A, SNORA31, LOC110120891, LOC110121336, PCDH20, LINC00391, LINC00446, MIR4703, CCDC70, FGF14-IT1, COMMD6, PRR20E, LINC00458, MIR5006, STARD13-AS, DNAJC3-DT, MIR8075, ABHD13, MYO16, MED4, LOC121838581, LOC101929657, PCDH9-AS2, LINC01309, TRE-TTC1-2, STK24-AS1, MZT1, DOCK9-AS1, LINC01442, CLYBL-AS1, TEX26, LOC110120945, MIR2681, MIR4499, LINC00544, LINC00440, POU4F1, AMER2, MCF2L-AS1, LINC00448, DNAJC3, ITGBL1, LOC112163671, GPR180, CCNA1, PABPC3, CLDN10, IFT88, MIR17, LOC121468007, LINC01232, HMGB1, DOCK9, ARHGEF7-AS1, SMIM2-AS1, LINC00393, MIR19B1, LMO7, BRCA2, COL4A2, ALG5, ZC3H13, FRY-AS1, SLITRK1, CDADC1, LOC110120833, LOC110120946, LINC01038, LOC121466732, NALCN-AS1, LRRC63, LOC101929140, SNORD31B, SLC10A2, NDFIP2, GTF2F2, IPO5, LINC00443, MIR548AR, EXOSC8, EBPL, GSX1, EDNRB, ZIC5, FOXO1, SLC25A30-AS1, TUBA3C, SLC25A30, SHISA2, LINC02344, GPR12, LOC110120843, SLC46A3, LOC110120834, DCT, NUDT15, LOC121468002, LINC00567, CPB2, EDNRB-AS1, BIVM, LOC112163653, LINC00454, LMO7DN, TNFRSF19, MIR4305, KLF5, CCDC168, MIR19A, ARGLU1, CLDN10-AS1, LOC110120950, ATP12A, RUBCNL, SLAIN1, IL17D, LOC121468003, LOC108318668, MIR5693, SPART, NALCN, LOC116268457, VWA8-AS1, FGF14, LOC112163651, LINC00442, MIR4306, LINC01039, ATP8A2, USP12-DT, GRK1, CENPJ, LINC00395, DHRS12, LOC780529, RBM26, SUPT20H, LINC00397, MAB21L1, COL4A1, ZAR1L, CDX2, PHF11, FREM2, TMEM255B, LINC00457, LINC00373, GRTP1-AS1, LOC112163640, TPTE2, LRCH1, LINC00561, LINC00540, LINC00331, LOC107992391, LOC121838576, LOC121466728, LOC110120889, ARHGEF7-AS2, LINC00562, NDFIP2-AS1, LINC00565, PDX1, LINC00348, POGLUT2, SMIM2-IT1, CDK8, LOC121466730, LOC112163674, SPATA13, ZDHHC20, KATNAL1, LINC00566, GGACT, PCCA, SPRYD7, LOC112163637, NHLRC3, SNORA107, LOC110121347, KBTBD7, IRS2, LOC106721785, ESD, LOC112163668, LINC01198, LINC00370, LINC00452, LOC108175343, ARL11, ATP11AUN, LINC00411, WBP4, MIR622, LOC121466733, SPACA7, SMAD9, LOC107984132, RPL21, RNF113B, SAP18, MIR3613, SLC15A1, LOC105370295, THSD1, LOC110121375, RASA3-IT1, LOC110120829, SOX21-AS1, ACOD1, DAOA, LOC110121473, MBNL2, LOC112163654, LACC1, GPC5-AS1, LINC00355, LINC01040, LOC121468001, MIR16-1, NBEA, GTF3A, TFDP1, KCTD12, LOC112163638, LOC112163656, RNF6, CLYBL-AS2, MRPS31, GPC6-AS2, LINC00462, LOC121838572, UBE2L5, SNORD13G, LINC02337, CKAP2, LINC01058, MIR4501, LOC101929259, LOC110120831, LINC00449, RCBTB2, TRF-GAA1-5, ALG11, ENOX1, PRECSIT, RNASEH2B-AS1, LINC00557, NUFIP1, MIR2276, LINC00547, XPO4, LOC110121400, ANKRD10, LPAR6, FAM124A, MIPEP, CPB2-AS1, LINC00380, SPATA13-AS1, LINC00392, LINC00363, ATXN8OS, FARP1, LOC112163676, CCDC169, USPL1, TPP2, ITM2B, TMEM272, HS6ST3, LOC112163667, TRN-GTT2-4, LINC00343, DLEU7, KPNA3, CBY2, LINC01050, NEK5, FGF9, WASF3, LOC112267897, PSPC1, LINC02338, LOC110008580, LCP1, MED4-AS1, LAMP1, LINC00424, LINC00551, LINC00381, KCTD4, PIBF1, MIR1297, UBAC2-AS1, GPC5-AS2, MYCBP2, LOC110120830, LINC00554, LINC00398, FGF14-AS2, AKAP11, COG3, LOC110120881, LINC00415, LINC00354, KBTBD6, SPART-AS1, PCDH9-AS4, LINC00550, FGF14-AS1, LOC647264, LINC00402, LOC112163658, MCF2L, LMO7-AS1, MIR548X2, C13orf42, LOC110121346, MRPL57, LINC00428, LINC00376, LOC121468006, OBI1, CAB39L, TNFSF13B, MIR4705, GJB2, LINC02343, GPALPP1, F7, MIR623, SKA3, N4BP2L2, LINC00564, ERCC5, LINC00463, GRTP1, CCDC122, MTRF1, LINC00399, LINC00459, SACS, SUGT1, OLFM4, RCBTB1, LINC00437, GJA3, FAM216B, TUSC8, ALOX5AP, LINC02333, LOC112163643, MIR4500, LINC00351, LOC116268456, LINC00421, SLITRK5, LINC01048, UCHL3, LOC121838573, LMO7DN-IT1, MTUS2-AS1, NAXD, LOC116268454, LOC105376684, LINC00375, LINC00383, N4BP2L1, LOC121838574, LINC02340, LOC112163663, FLT1, OXGR1, SNORA27, DLEU1, SIAH3, RNF17, LOC110120827, CDC16, DLEU2, LINC01072, RASA3, LINC00444, DIAPH3-AS2, CARS2, TPT1, MYCBP2-AS1, GAS6, ZIC2, PARP4, MIR8079, SGCG, LINC00374, LINC00407, LOC108281153, MIR3168, ING1, LINC02341, LOC111365190, CUL4A, SETDB2, RFC3, LOC112268114, MYCBP2-AS2, LINC00548, LOC112163665, INTS6-AS1, DACH1, SERTM1, LINC01069, CCDC169-SOHLH2, LOC110121359, SPRY2, LOC112163648, DIAPH3, LOC112163650, LOC101060553, LOC110120930, GPR18, LOC121466731, FNDC3A, DLEU7-AS1, TSC22D1-AS1, LOC105370362, NRAD1, LINC00572, LOC105370361, USP12, LINC00297, LOC121838582, NUP58, DIS3, SCEL, LINC00434, LINC01074, KLF12, LOC112163662, PCID2, PLUT, TGDS, LINC01044, SUCLA2, LINC01080, KLHL1, F10-AS1, LOC101928841, LOC100288208, LOC110120933, POMP, LOC116268455, LOC100506016, LINC00621, EEF1AKMT1, LINC01075, PCDH8, MIR20A, LINC01070, NALF1, TBC1D4, LOC112163669, LINC00384, TRE-TTC2-1, MLNR, LOC110121384, LINC00385, LHFPL6, CRYL1, LOC112163655, LINC00433, LOC106783494, CLYBL, SOX1-OT, LINC01046, PCOTH, LOC101928764, WDFY2, PCDH9-AS3, LOC110121360, LINC00543, TPT1-AS1, CNMD, LOC101928697, HSPH1, LINC01078, LINC00552, LOC107457599, LIG4, UFM1, LINC00333, LINC00379
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059851
4.
GRCh37:
Chr13:19296527-115085141
GRCh38:
Chr13:18850545-114327173
LOC121466728, IFT88, LINC00426, FGF14, LOC110121375, ZMYM2, RXFP2, PHF11, SGCG, DGKH, SLC25A30-AS1, LOC121468003, LINC00379, LINC00565, LINC00367, LOC110120946, EXOSC8, LOC112267897, TRPC4, ALG5, PARP4, PDX1, MIR548AS, PSPC1, TNFSF13B, MBNL2, LINC00560, CCDC169-SOHLH2, WBP4, LINC00383, PRR20E, DNAJC15, MLNR, ACOD1, LINC00410, LINC02333, LINC01068, LOC110120843, NDFIP2, LOC121468007, LOC109461478, IL17D, DHRS12, LINC00381, LINC01048, SERPINE3, SAP18, LOC112163666, TRE-TTC2-1, TUSC8, DNAJC3-DT, FARP1, LOC112163643, ING1, MTMR6, B3GLCT, HS6ST3, LINC00552, TPTE2, MYCBP2-AS2, LINC00676, LINC00392, CPB2-AS1, LINC00621, MIR19A, PIBF1, LOC110121360, LOC107882129, MIR759, SNORA31B, LOC110120933, C1QTNF9, POMP, LINC00333, LOC110120950, TEX26-AS1, LOC110121346, GAS6-DT, SLC25A15, LOC112163655, LOC121468006, SUGT1-DT, DOCK9-AS1, HTR2A, LINC00331, LCP1, UBAC2-AS1, BIVM-ERCC5, PCDH8, LOC105370362, DIAPH3-AS2, MIR4500HG, PRECSIT, SLC7A1, DLEU1, LOC121468002, LINC00572, LOC121838578, LMO7-AS1, MIPEP, EFNB2, LOC108318668, FREM2-AS1, FGF9, ERCC5, PROSER1, POU4F1, LOC112163670, LINC01039, GTF2F2, DLEU7-AS1, TEX26, CCNA1, GPR12, RFC3, LINC00345, HTR2A-AS1, LINC00423, DIAPH3-AS1, CDK8, VWA8-AS1, GRK1, PCOTH, PCDH17, ANKRD10-IT1, ITGBL1, TPT1-AS1, ATP8A2, FNDC3A, SACS-AS1, SETDB2, LOC100288208, LINC01043, SPRYD7, LINC00443, MIR621, LINC02341, LOC112163656, MICU2, LINC01077, MIR3169, UTP14C, LOC110120828, SUCLA2-AS1, LINC00374, LOC107984132, GRTP1, NEK3, LOC105376684, DIAPH3, LOC112163658, KBTBD7, SOX1-OT, RNF113B, RNF6, LOC105370268, IRS2, MIR2276, ABHD13, MRPL57, CHAMP1, LINC01044, UCHL3, LOC110120930, UBAC2, LINC02338, LINC00421, RAP2A, MIR548AR, CLN5, LOC112163664, LOC112163647, ABCC4, LOC110008580, MED4, VPS36, PRR20D, BORA, PRR20C, USP12, LINC01040, LOC112163654, LOC112163663, LOC109580097, LINC00350, GJB6, LINC00442, MTUS2, LINC00380, LINC00364, LOC112163637, PCDH20, CLDN10, CCDC168, EDNRB, LINC00564, SNORD31B, LOC102723345, SCEL-AS1, GPC6, GAS6, METTL21C, PLUT, LINC00330, LOC112163639, LINC00458, KBTBD6, PCCA-DT, CCDC169, COL4A1, SUGT1, ARHGEF7-AS2, ZIC2, LOC121838581, N4BP2L2, SUPT20H, TUBGCP3, USP12-DT, MEDAG, STK24-AS1, CCDC70, LINC00348, MTUS2-AS1, SPATA13, LINC00563, SLC46A3, LOC102723968, LINC00347, CAB39L, ARL11, DIS3, LINC00561, LINC00411, LINC00402, SLITRK1, MRPS31, LINC01050, CRYL1, C13orf42, LINC01078, PAN3, LOC100506016, CDADC1, RNASEH2B-AS1, FKSG29, KCTD12, LRRC63, LOC105370361, RASA3, NALCN, F10-AS1, LINC00424, COL4A2, STK24, CBY2, LOC121466730, MIR3613, GPR183, SPART-AS1, LOC110120889, NHLRC3, LINC00327, LIG4, SOX21-AS1, FRY, SLITRK6, CSNK1A1L, TPP2, COMMD6, PROZ, DAOA-AS1, LOC105370203, LINC01058, TMEM272, LINC00456, LINC01074, LOC110121336, LINC00353, DCLK1, IPO5, UBL3, LINC00382, LOC116268457, TBC1D4, AKAP11, DLEU2, LOC112163668, LINC00368, FLT3, PCCA-AS1, LOC780529, VWA8, LINC02340, STOML3, LINC00459, CFAP97D2, LINC00412, LINC01046, MZT1, KLF12, TSC22D1-AS1, LOC110120829, LINC00297, MIR1297, LOC121838579, MIR4703, MIR3168, SOHLH2, CLYBL-AS1, POLR1D, USP12-AS1, EEF1AKMT1, FRY-AS1, TMCO3, LOC116268454, LINC00395, NUP58, LOC110121473, LOC112163644, LINC00407, LOC110120827, PDS5B, OLFM4, LOC113939939, SLC25A30, COL4A2-AS1, LOC121468005, LINC00544, TRF-GAA1-5, MCF2L-AS1, LINC01055, LOC121838583, MIR17, DLEU7, SNORA31, CUL4A, CLYBL-AS2, LINC00457, LINC01309, LOC111365190, LOC112268114, RUBCNL, SHISA2, LOC112163665, ZMYM5, DOCK9, KATNAL1, LOC106721785, PCDH9, SMAD9, TRN-GTT2-4, RASL11A, LINC00385, SETDB2-PHF11, LINC01053, SPART, SKA3, MIR4499, DLEU1-AS1, LINC00437, LINC00547, NAA16, ESD, DAOA, SMIM2-AS1, ITM2B, GPC5-AS2, LINC00445, COG6, LOC647264, TRE-TTC1-2, LNX2, LINC00415, ATP11AUN, LOC116268455, ATP11A-AS1, LINC00398, LOC101928841, LINC00598, SERTM1, LOC121838582, NALF1, CLYBL, MCF2L, LOC121838580, LOC121838573, LINC00433, PCDH9-AS3, LINC00358, LOC101928730, SCEL, MED4-AS1, DOCK9-DT, LINC00359, LOC112163648, POSTN, LOC112163650, ATP4B, LINC00448, LOC101928764, RCBTB2, SPACA7, LINC00571, LINC00452, WASF3, LOC121838584, PAN3-AS1, GAS6-AS1, LMO7, LOC110121384, MIR4306, MAB21L1, TSC22D1, LINC00540, PCDH9-AS4, DCUN1D2, LOC107457599, UGGT2, NUDT15, TM9SF2, FOXO1, SLC15A1, ADPRHL1, MIR92A1, LINC01198, LINC00434, ERICH6B, LINC00454, LOC101927437, RPL21, RB1, MIR5693, LINC00463, TUBA3C, LINC00370, XPO4, LOC112163649, MPHOSPH8, WDFY2, MTIF3, HSPH1, LINC00548, CDC16, LINC00566, LOC101929140, NRAD1, MYO16-AS1, LINC00567, POGLUT2, LACC1, LINC00428, URAD, MIR20A, LINC00377, LOC121838576, GGACT, GPC6-AS1, LINC00355, RASA3-IT1, LOC112163676, UFM1, LINC00397, LINC01072, MIR4501, LINC01047, LRCH1, MIR8073, SPATA13-AS1, LINC00539, C1QTNF9B, PCDH9-AS2, LOC121838575, LOC105370295, BRCA2, N4BP2L2-IT2, NALCN-AS1, LINC00440, SNORA27, LINC00444, ZC3H13, LOC110120945, NALF1-IT1, MIR16-1, MIR5006, HMGB1, LINC00376, SMIM2, RNF17, STARD13, KLHL1, STARD13-AS, MIR4500, SMIM2-IT1, CLDN10-AS1, LINC00366, TPT1, KPNA3, LOC106783494, DZIP1, ATP7B, LOC110120881, LOC101927284, GPC6-AS2, DACH1, RNASEH2B, TNFSF11, NEK5, MYCBP2, LINC00446, LOC112163669, SPRY2, LOC110120831, LHFPL6, GPALPP1, LINC00562, BIVM, LOC112163662, LINC00558, SUCLA2, UBE2L5, TFDP1, LINC00557, LMO7DN, LOC112163675, LOC110120834, MIR8079, KLF5, LINC00400, COG3, LOC112163653, LOC121466733, LOC121838572, LOC112163646, FGF14-AS2, LINC01442, LOC107882127, LINC00543, MIR622, LOC121838574, ARGLU1, LINC01049, LOC110121347, LOC108281153, LOC121466732, ELF1, LINC00378, MIR4502, TMTC4, INTS6-AS1, LINC02344, MTRF1, MIR548X2, LINC00431, TNFRSF19, KCNRG, FREM2, MIR320D1, RFXAP, ARHGEF7, FAM216B, UPF3A, MIR4305, LOC113939938, PCID2, PRR20A, DNAJC3, GPC5, LOC112163657, LOC110120855, LOC112163674, ALOX5AP, LOC110120832, LMO7DN-IT1, LINC02337, AMER2, LINC01070, MIR2681, MIR3665, EBPL, SERP2, INTS6, LOC112163645, SACS, GPR18, MIR5007, TEX29, MIR8075, NBEA, THSD1, MIR18A, RBM26-AS1, LOC111429622, LINC00375, LINC00373, NAXD, LINC00551, LOC101928697, OBI1-AS1, LINC01052, LOC112163671, CDX2, FLT1, LOC108175343, LOC112163651, LOC107992391, LOC116268456, GPC5-AS1, CARS2, CCDC122, RAB20, OBI1, ARHGEF7-AS1, LINC00365, ATP11A, LINC00332, LINC02343, RB1-DT, LOC100129307, LINC00430, LPAR6, ANKRD10, LINC00460, LINC00351, EPSTI1, GSX1, OXGR1, LOC112163672, CPB2, PRR20B, CYSLTR2, LINC00545, F10, SOX1, LINC02336, ZDHHC20, N4BP2L1, LINC01069, HNRNPA1L2, FAM124A, MIR17HG, FGF14-IT1, TGDS, LOC110120830, LOC110120891, LINC00408, LINC01038, LATS2, GJA3, LOC110121400, LINC00390, ALG11, EDNRB-AS1, FBXL3, LINC00391, RCBTB1, MIR4705, LAMP1, LOC121838577, KCTD4, LOC101929259, LOC101060553, TDRD3, MYO16-AS2, LINC00384, MIR19B1, LINC00393, MYO16, LINC00343, LINC00550, MIR15A, SLITRK5, LOC112163652, LINC00554, LINC00462, LOC111562370, MIR4704, CNMD, CENPJ, ZAR1L, SNORA107, LOC121468000, LINC01065, LOC110120909, LINC00354, NDFIP2-AS1, CKAP2, GPR180, LINC00399, LOC112163640, TRIM13, LOC121466729, DCT, SOX21, SIAH3, LOC112163667, MYCBP2-AS1, FGF14-AS1, USPL1, MIR623, LINC00396, GJB2, LOC121468004, LINC02339, TEX30, COL4A2-AS2, LOC112163638, SLC10A2, LINC01075, MIR3170, SNORD13G, C13orf46, SLAIN1, PCCA, ENOX1, LOC110121359, LOC101929657, TMEM255B, LOC121468001, LINC00559, SNORD102, ATP12A, PABPC3, LINC00363, GRTP1-AS1, LINC01232, LOC110120897, F7, ENOX1-AS2, MIR1267, GTF3A, KL, RGCC, NUFIP1, RBM26, LOC121466731, ZIC5, LINC01080, LINC00449, LOC110120833, ATXN8OS
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059855
5.
GRCh37:
Chr13:19436286-115107733
GRCh38:
Chr13:18862146-114342258
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, LOC121466728, LOC121466729, LOC121466730, LOC121466731, LOC121466732, LOC121466733, LOC121468000, LOC121468001, LOC121468002, LOC121468003, LOC121468004, LOC121468005, LOC121468006, LOC121468007, LOC121838572, LOC121838573, LOC121838574, LOC121838575, LOC121838576, LOC121838577, LOC121838578, LOC121838579, LOC121838580, LOC121838581, LOC121838582, LOC121838583, LOC121838584, 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, 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
See casesPathogenic
(Jun 18, 2013)
no assertion criteria providedVCV000155395
6.
GRCh37:
Chr13:19520322-115070103
GRCh38:
Chr13:18946182-114304628
FNDC3A, SOX1-OT, LINC01050, SCEL-AS1, LINC00327, LINC00390, LINC00343, MIR4500, LOC112163669, CLYBL-AS1, DIAPH3, LINC00448, LOC116268455, DNAJC3-DT, MYCBP2, LOC121838573, PROSER1, F7, MIR1297, DNAJC15, LOC110120930, KPNA3, MIR4502, LINC00400, N4BP2L2-IT2, GRTP1-AS1, TRN-GTT2-4, LINC01039, LINC00552, XPO4, OBI1, GTF3A, KLHL1, LOC121838572, CDADC1, MZT1, LOC113939938, ZMYM5, MIR4704, LINC00443, LOC121468005, GPR18, MRPS31, NDFIP2, LINC00396, LOC110121347, LOC121838575, MICU2, ALG5, LOC110120855, MIR5006, LRRC63, BRCA2, LINC00411, LINC01040, DLEU2, VPS36, TPP2, MIR623, ATP11A, STOML3, ARGLU1, CCNA1, SETDB2-PHF11, LINC01074, POLR1D, LINC02333, COL4A2, LOC780529, WBP4, MLNR, LOC110121400, ARHGEF7-AS2, GAS6-DT, AKAP11, LINC00445, SACS, LOC121468002, CLYBL, EEF1AKMT1, FGF9, ZIC2, ITGBL1, ARHGEF7-AS1, RNF6, GPALPP1, LINC00543, PLUT, LINC01068, LOC108281153, COG3, LINC00407, SLC25A30, SUCLA2-AS1, NAXD, DAOA-AS1, LINC00366, FAM124A, GSX1, COG6, LINC00421, LINC00565, LOC121468003, LINC00348, SLITRK6, LINC00383, LOC106721785, DLEU7-AS1, FLT1, FREM2-AS1, ATP8A2, MTMR6, LOC105370295, GPC5-AS2, LOC101928841, LINC02339, UTP14C, LINC00368, LINC00456, LINC00333, MIR621, INTS6-AS1, LOC112163666, MIR3168, CCDC70, CSNK1A1L, UPF3A, LOC112163667, PHF11, TPTE2, MED4-AS1, MCF2L-AS1, SERPINE3, LOC110120945, FKSG29, PCCA-AS1, CDX2, SPRYD7, RFXAP, LINC00363, LCP1, TMEM255B, LOC121468004, INTS6, LOC121466733, PCID2, PCDH8, MIR759, TFDP1, LOC112267897, SPART, TGDS, MIR4306, LOC121838574, LINC00426, RPL21, TRIM13, LOC106783494, MIR18A, DZIP1, DACH1, LOC110121336, SACS-AS1, LINC01069, LINC00428, GJA3, GPR180, LINC00347, DOCK9, LINC00567, LOC110120831, MPHOSPH8, LOC112163645, LINC00415, UBL3, LOC110120830, LINC02337, LINC02338, LINC00375, LMO7DN-IT1, LINC00540, LOC121466730, SLC25A30-AS1, HNRNPA1L2, ATP7B, LINC01080, TNFRSF19, ATP11AUN, LRCH1, KLF5, LINC00544, SNORA27, LINC00364, MIR1267, ADPRHL1, LOC100288208, RNF113B, FAM216B, ATP12A, ANKRD10, LATS2, LINC00374, CAB39L, LINC00350, SOX21, TEX30, SLC46A3, GPR12, LOC110120843, CPB2, OLFM4, LINC00539, LOC116268457, LOC116268456, MTIF3, RNF17, COL4A2-AS1, LOC107992391, CARS2, LINC00433, SOX21-AS1, NALF1-IT1, RXFP2, VWA8, STARD13-AS, LINC00331, RASA3, GRTP1, TSC22D1-AS1, ERCC5, CENPJ, USP12-AS1, FGF14-IT1, LOC112163637, PCCA, RAB20, SUCLA2, PRR20E, GPC5, LOC101928730, HTR2A, MIR3613, RNASEH2B-AS1, ING1, SIAH3, LOC110121473, LINC00398, LOC113939939, LINC00459, TRF-GAA1-5, NBEA, LOC110121359, LINC00330, CCDC169, MIR3665, IL17D, LINC02341, ZDHHC20, LINC02343, DNAJC3, SLC10A2, CCDC169-SOHLH2, LOC110120827, LINC00563, LINC02340, EDNRB-AS1, LOC112163658, TRE-TTC1-2, KCTD4, LOC110120829, USP12-DT, ABHD13, LAMP1, ATXN8OS, MIR19A, LINC00423, DLEU7, LOC112268114, AMER2, ZMYM2, TEX26-AS1, PCDH9-AS2, LOC110120950, TPT1-AS1, LINC01065, POGLUT2, LINC00345, LINC00547, LOC107882127, LOC112163639, PCDH9-AS3, TBC1D4, LINC00548, STARD13, CNMD, MIR4703, NHLRC3, PAN3, C13orf42, EBPL, LOC112163672, UBE2L5, LOC112163651, RCBTB1, MYCBP2-AS2, LOC110120889, NDFIP2-AS1, DGKH, MIR8075, LOC100506016, DOCK9-DT, IRS2, HSPH1, ENOX1, RASL11A, STK24-AS1, DLEU1, LOC110121360, RFC3, GJB6, LINC00377, TUBA3C, RCBTB2, LINC01072, LOC102723345, SUPT20H, LOC121468001, SLC7A1, LOC121468007, GRK1, GPC6-AS1, B3GLCT, RUBCNL, LINC01043, DCUN1D2, LOC112163650, LINC01442, KL, DLEU1-AS1, METTL21C, ZC3H13, LOC110121384, MIR548AR, ACOD1, GPC5-AS1, MIR17HG, LINC00354, DIS3, BIVM-ERCC5, IPO5, F10-AS1, LOC110120833, LOC112163656, GAS6-AS1, LOC105370362, LINC01044, LOC110121346, LOC108175343, PRECSIT, LOC101929140, FRY, NALCN, DIAPH3-AS2, LOC121466729, LINC01075, LOC121466732, NEK3, HTR2A-AS1, GPC6-AS2, SNORA31, LOC121466731, LOC121838580, LINC00358, SPART-AS1, MIR8079, LOC647264, SGCG, ELF1, TM9SF2, SAP18, SNORD31B, SPATA13-AS1, TDRD3, LOC107984132, ZAR1L, TMTC4, LINC00412, LINC00562, LOC109580097, LINC00559, LIG4, LOC121838579, MIR3170, LOC107457599, EFNB2, CRYL1, TNFSF13B, ENOX1-AS2, LOC105370268, SLC25A15, NUP58, LOC101928764, LINC00397, LINC01053, MIR2681, ITM2B, TMCO3, RGCC, LOC112163670, MEDAG, LINC01047, IFT88, LOC121838582, MIR15A, NALF1, TMEM272, LOC112163663, LOC112163676, ALG11, BORA, LINC02336, PSPC1, CLDN10-AS1, LOC101929259, LOC110120834, LINC00449, CPB2-AS1, FRY-AS1, LOC112163657, LOC101927437, LINC01232, RNASEH2B, PCCA-DT, LOC105370361, LOC110120881, LINC00566, LOC110120897, LINC00442, UBAC2-AS1, LOC112163640, LINC00384, OXGR1, FARP1, USPL1, MIR92A1, LINC00392, EDNRB, GJB2, MIR4305, LOC112163646, FBXL3, MIR320D1, LMO7DN, DCLK1, TRPC4, GPC6, LINC01052, LOC121468006, UCHL3, LINC00545, TPT1, LINC00385, LOC100129307, DAOA, SUGT1, SNORD13G, SNORA107, LOC121466728, KATNAL1, LINC00370, UGGT2, KCTD12, LOC112163668, VWA8-AS1, SPRY2, SMIM2-AS1, CFAP97D2, LOC110120909, CCDC168, MIR2276, COL4A1, LINC00551, LINC00561, N4BP2L1, LOC112163664, LINC00558, POMP, LACC1, DHRS12, LOC112163675, LOC116268454, MIR548AS, PCDH17, FOXO1, GPR183, PROZ, LMO7-AS1, NRAD1, LINC01309, LOC112163654, PRR20B, ARL11, SMAD9, LINC00381, RB1-DT, LMO7, LINC01070, ARHGEF7, FREM2, LOC108318668, ABCC4, LOC101928697, LINC00351, ATP11A-AS1, COL4A2-AS2, LINC00395, CLYBL-AS2, SCEL, SMIM2-IT1, LINC00676, SMIM2, MIR3169, KCNRG, LOC121838577, LINC00376, LINC00598, LINC00380, ESD, LINC01048, LINC00444, LOC111429622, RB1, PCOTH, LINC00434, NUDT15, TRE-TTC2-1, PDS5B, LOC101929657, HS6ST3, WDFY2, MIR4705, MIR4501, LOC110120933, LOC101927284, SPACA7, PCDH9, THSD1, LINC00431, F10, LOC105370203, SNORD102, RASA3-IT1, LINC00457, CKAP2, PDX1, LINC00391, LINC00458, KBTBD6, TEX26, MIR622, C1QTNF9, SERTM1, SNORA31B, LHFPL6, LINC00353, CUL4A, SERP2, MTUS2-AS1, EXOSC8, LOC112163652, LOC112163665, RBM26-AS1, LINC00554, CYSLTR2, GAS6, PRR20A, ERICH6B, MBNL2, MIR4499, UFM1, C13orf46, MIR16-1, FLT3, C1QTNF9B, LINC00430, SKA3, LINC00367, LOC110008580, LINC01058, SETDB2, LINC00402, MIR8073, MYO16-AS2, LOC112163653, LOC111365190, LINC00379, PRR20D, LOC112163674, LINC00462, SLAIN1, ZIC5, MYO16, SUGT1-DT, LINC00332, URAD, SOHLH2, ANKRD10-IT1, PIBF1, PARP4, MIR5693, LOC112163648, EPSTI1, TUBGCP3, MIR4500HG, LOC112163638, LINC01049, UBAC2, DIAPH3-AS1, LOC112163662, LINC00365, FGF14-AS1, MTRF1, MIR19B1, LINC01198, LOC121838576, LOC110120891, LOC111562370, PAN3-AS1, LINC02344, GGACT, LINC00355, CDK8, HMGB1, TUSC8, WASF3, CBY2, CLDN10, LOC109461478, LINC00621, LOC121468000, LOC110120828, SLITRK1, LOC121838578, PCDH9-AS4, LNX2, OBI1-AS1, LINC01078, LINC00297, SHISA2, LINC00424, TNFSF11, ATP4B, LOC121838584, LOC112163644, LOC121838583, LINC00373, LOC107882129, LINC00460, NUFIP1, DCT, LINC00359, LINC00463, LOC112163647, LOC110120832, PABPC3, SPATA13, RBM26, ALOX5AP, MIR548X2, LINC00399, LINC00382, LINC00393, LOC112163649, LINC00550, LINC00454, LOC112163655, CLN5, SLITRK5, MCF2L, LINC00557, LPAR6, LOC121838581, FGF14-AS2, GTF2F2, LOC105376684, MRPL57, USP12, DOCK9-AS1, MIPEP, LINC01077, TSC22D1, MIR5007, NAA16, LINC00410, LOC110121375, BIVM, LINC00440, LINC00452, RAP2A, MYCBP2-AS1, MYO16-AS1, POU4F1, LINC00560, MAB21L1, TEX29, PCDH20, LINC01046, LOC110120946, MED4, LINC00446, LINC00564, LINC00572, MIR20A, POSTN, SLC15A1, LOC112163671, COMMD6, NALCN-AS1, LOC112163643, STK24, SOX1, PRR20C, LINC01055, KBTBD7, LOC102723968, N4BP2L2, LINC01038, CDC16, LOC101060553, LINC00437, LINC00378, KLF12, CCDC122, NEK5, MIR17, MTUS2, FGF14, LINC00571
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059858
7.
GRCh37:
Chr13:20246074-115085141
GRCh38:
Chr13:19671934-114340331
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, 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, LOC121466728, LOC121466729, LOC121466730, LOC121466731, LOC121466732, LOC121466733, LOC121468000, LOC121468001, LOC121468002, LOC121468003, LOC121468004, LOC121468005, LOC121468006, LOC121468007, LOC121838572, LOC121838573, LOC121838574, LOC121838575, LOC121838576, LOC121838577, LOC121838578, LOC121838579, LOC121838580, LOC121838581, LOC121838582, LOC121838583, LOC121838584, 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
See casesPathogenic
(Nov 26, 2012)
no assertion criteria providedVCV000154857
8.
GRCh37:
Chr13:20407270-115085141
GRCh38:
Chr13:19833130-114327106
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, LOC121466728, LOC121466729, LOC121466730, LOC121466731, LOC121466732, LOC121466733, LOC121468000, LOC121468001, LOC121468002, LOC121468003, LOC121468004, LOC121468005, LOC121468006, LOC121468007, LOC121838572, LOC121838573, LOC121838574, LOC121838575, LOC121838576, LOC121838577, LOC121838578, LOC121838579, LOC121838580, LOC121838581, LOC121838582, LOC121838583, LOC121838584, 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,