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Results: 36

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
HTR2AMajor depressive disorder, response to citalopram therapy indrug response
(Sep 25, 2013)
no assertion criteria provided
2.
HTR2AObsessive-compulsive disorder, susceptibility torisk factor
(Apr 12, 2012)
no assertion criteria provided
3.
HTR2ASchizophrenia, susceptibility torisk factor
(Apr 12, 2012)
no assertion criteria provided
4.
GRCh37:
Chr13:47409311
GRCh38:
Chr13:46835176
HTR2AMalignant melanomanot providedno assertion provided
5.
GRCh37:
Chr13:31937609-91227546
GRCh38:
Chr13:31363472-90575292
ATP7B, BRCA2, KLF5, BTF3P11, RCBTB2, CLN5, CPB2, DACH1, EDNRB, ELF1, ESD, FOXO1, MLNR, GTF2F2, GUCY1B2, HTR2A, KPNA3, LCP1, LMO7, MAB21L1, SMAD9, NEK3, PCDH8, PCDH9, POU4F1, RB1, RFC3, RFXAP, ATXN8OS, TPT1, TRPC4, UCHL3, TNFSF11, SCEL, SUCLA2, DLEU2, TSC22D1, CCNA1, DCLK1, KL, ITM2B, MTRF1, UTP14C, TBC1D4, FRY, LPAR6, SLC25A15, LHFP, TRIM13, MRPS31, SPRY2, DLEU1, N4BP2L2, PIBF1, OLFM4, POSTN, SUGT1, LECT1, WBP4, AKAP11, KLF12, EXOSC8, FNDC3A, DIS3, PDS5B, MYCBP2, VWA8, ZC3H13, SPG20, LRCH1, SLITRK5, FBXL3, INTS6, CKAP2, NUFIP1, NBEA, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, PHF11, UFM1, NDFIP2, SOHLH2, ENOX1, RCBTB1, NUDT15, , SUPT20H, THSD1, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, PCDH20, SMIM2, RNF219, NAA16, RNASEH2B, DHRS12, BORA, KIAA0226L, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KBTBD7, SLITRK6, EBPL, KBTBD6, STARD13, N4BP2L1, EPSTI1, SLITRK1, KCTD12, ARL11, WDFY2, N4BP2L2-IT2, LINC00284, CSNK1A1L, RXFP2, SLAIN1, PRR20A, FAM216B, LACC1, LINC00330, HNRNPA1L2, DGKH, CCDC122, STOML3, COMMD6, ERICH6B, SPERT, DLEU7, FAM124A, CTAGE3P, LRRC63, SLC25A30, SIAH3, KCNRG, LINC00282, LINC00550, LINC00347, FREM2, NEK5, KCTD4, NHLRC3, SERP2, SERTM1, LINC00547, LINC00548, TUSC8, MIR15A, MIR16-1, ALG11, MZT1, TSC22D1-AS1, MIR4500HG, ZAR1L, LINC00598, LINC00371, SERPINE3, SNORA31, MIR621, MIR622, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, IRG1, LOC100129307, LINC00462, TRE-TTC2-1, TRE-TTC1-1, TPT1-AS1, MIR1297, MIR759, MIR320D1, MIR3168, MIR4305, MIR3169, MIR3665, MIR3613, EDNRB-AS1, RBM26-AS1, FRY-AS1, LINC00445, SPG20-AS1, VWA8-AS1, INTS6-AS1, LINC00458, CPB2-AS1, CCDC169-SOHLH2, MIR4500, MIR4704, MIR548X2, MIR4703, MIR5007, MIR5693, MIR5006, LINC00558, LINC00563, LINC00441, RNU6-56P, RNU6-57P, RNU6-66P, RNU6-67P, RNU6-68P, RNU6-69P, RNU6-71P, RNU6-72P, RNU6-79P, RNU6-81P, MED4-AS1, PCDH9-AS2, FREM2-AS1, DLEU7-AS1, HTR2A-AS1, PCDH9-AS3, PCDH9-AS4, LINC00331, LINC00332, LINC00333, ENOX1-AS2, LINC00351, LINC00353, LINC00358, LINC00364, LINC00366, LINC00381, LINC00392, LINC00393, LINC00395, LINC00400, LINC00423, LINC00433, LINC00434, LINC00440, LINC00446, LINC00448, LINC00457, LINC00559, LINC00571, DIAPH3-AS1, DIAPH3-AS2, NDFIP2-AS1, MYCBP2-AS1, RNF219-AS1, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, SMIM2-IT1, LINC00348, LINC01080, LOC101926897, LINC00378, LMO7-AS1, LINC01069, LINC00382, LINC01049, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, SUCLA2-AS1, LOC101929657, LINC00397, MIR8079, LINC01065, LINC01038, LOC103191607, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01068, LINC01055, LINC01075, LMO7DN-IT1, LINC00375, LINC00428, LINC00376, SCEL-AS1, LOC105370306, LINC01040
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
6.
GRCh37:
Chr13:20411535-115085141
GRCh38:
Chr13:19837395-114327173
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, BTF3P11, 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, GUCY1B2, 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, 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, NUPL1, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFP, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, LECT1, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPG20, 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, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, NUDT15, , TNFRSF19, SUPT20H, ANKRD10, RAB20, CARKD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, KIAA0226L, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, N4BP2L2-IT2, TEX29, LINC00284, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, CTAGE3P, LRRC63, N6AMT2, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, LINC00346, CHAMP1, SIAH3, KCNRG, LINC00282, SLC46A3, UBAC2, LINC00550, LINC00347, C1QTNF9, FREM2, NEK5, TMEM255B, 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, C1QTNF9B-AS1, SNORA27, TSC22D1-AS1, MIR4500HG, LINC00452, CCDC168, URAD, ZAR1L, LINC00598, LINC00371, SERPINE3, GAS6-AS1, SNORA31, MIR621, MIR622, MIR623, LINC00460, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, IRG1, LOC100129307, LINC00462, COL4A2-AS2, LINC00552, , LINC00543, LINC00426, TRE-TTC2-1, TRN-GTT2-4, TRF-GAA1-3, TRE-TTC1-1, TPT1-AS1, PAN3-AS1, DNAJC3-AS1, UBAC2-AS1, MCF2L-AS1, MIR1297, MIR1267, MIR759, MIR2276, MIR320D1, MIR4306, MIR3168, MIR3170, MIR4305, MIR3169, MIR3665, MIR3613, ANKRD10-IT1, EDNRB-AS1, RBM26-AS1, LINC00403, GAS6-AS2, LINC00540, SACS-AS1, LINC00327, TEX26-AS1, FRY-AS1, LINC00445, SPG20-AS1, VWA8-AS1, INTS6-AS1, LINC00458, SOX21-AS1, CPB2-AS1, CCDC169-SOHLH2, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4704, MIR4502, MIR4705, MIR548X2, MIR4499, MIR4703, LINC00539, MIR5007, MIR5693, MIR5006, MIR548AR, MIR548AS, LINC00558, LINC00563, LINC00565, LINC00441, RNU6-53P, RNU6-56P, RNU6-57P, RNU6-58P, RNU6-59P, RNU6-63P, RNU6-64P, RNU6-66P, RNU6-67P, RNU6-68P, RNU6-69P, RNU6-71P, RNU6-72P, RNU6-75P, RNU6-78P, RNU6-79P, RNU6-81P, RNU6-82P, RNU6-83P, MED4-AS1, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, LINC00297, CLYBL-AS2, PCDH9-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, LINC00351, LINC00353, LINC00358, LINC00364, LINC00365, LINC00366, LINC00379, LINC00381, LINC00392, LINC00393, LINC00395, LINC00398, LINC00400, LINC00411, LINC00423, LINC00433, LINC00434, LINC00440, LINC00443, LINC00446, LINC00448, LINC00454, LINC00457, LINC00424, LINC00559, LINC00571, CLDN10-AS1, DIAPH3-AS1, DIAPH3-AS2, COL4A2-AS1, ATP11A-AS1, NDFIP2-AS1, MYCBP2-AS1, RNF219-AS1, ARHGEF7-AS1, SPATA13-AS1, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, FAM155A-IT1, SMIM2-IT1, PCCA-AS1, NALCN-AS1, LINC00348, MYO16-AS1, LINC00359, LOC101060553, LINC00676, LINC01080, LOC101926897, LINC00378, LMO7-AS1, LINC01069, LINC00382, LINC01049, LOC101927248, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LINC01070, LOC101928730, LINC01043, LOC101928841, LINC00463, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, SUCLA2-AS1, LOC101929657, LINC00380, LINC00367, LINC00397, MIR8073, MIR8075, MIR8079, LINC01053, LINC00412, LINC01065, LINC01038, LINC01232, LOC103191607, LINC00456, LINC01046, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01058, LINC01068, LINC01055, LINC01075, LINC01044, LINC00363, LINC00399, LMO7DN-IT1, LINC01309, LINC00431, LINC01072, LINC00375, , LINC00428, LINC01039, LINC00376, SCEL-AS1, F10-AS1, LOC105370306, LINC01040, LINC00370
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
7.
GRCh37:
Chr13:19436286-115107733
GRCh38:
Chr13:18862146-114342258
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, BTF3P11, 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, GUCY1B2, 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, NUPL1, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFP, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, LECT1, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPG20, 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, , TNFRSF19, SUPT20H, ANKRD10, RAB20, CARKD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, KIAA0226L, 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, LINC00284, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, CTAGE3P, LRRC63, N6AMT2, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, LINC00346, CHAMP1, SIAH3, KCNRG, LINC00282, 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, C1QTNF9B-AS1, SNORA27, TSC22D1-AS1, MIR4500HG, LINC00452, CCDC168, URAD, ZAR1L, LINC00598, LINC00371, SERPINE3, GAS6-AS1, SNORA31, MIR621, MIR622, MIR623, LINC00460, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, IRG1, LOC100129307, LINC00462, COL4A2-AS2, LINC00552, , LINC00543, LINC00426, TRE-TTC2-1, TRN-GTT2-4, TRF-GAA1-3, TRE-TTC1-1, TPT1-AS1, LINC00421, PAN3-AS1, DNAJC3-AS1, UBAC2-AS1, MCF2L-AS1, MIR1297, MIR1267, MIR759, MIR2276, MIR320D1, MIR4306, MIR3168, MIR3170, MIR4305, MIR3169, MIR3665, MIR3613, ANKRD10-IT1, EDNRB-AS1, RBM26-AS1, LINC00403, GAS6-AS2, LINC00540, SACS-AS1, LINC00327, TEX26-AS1, FRY-AS1, LINC00445, SPG20-AS1, VWA8-AS1, INTS6-AS1, LINC00458, SOX21-AS1, CPB2-AS1, CCDC169-SOHLH2, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4704, MIR4502, MIR4705, MIR548X2, MIR4499, MIR4703, LINC00408, LINC00539, MIR5007, MIR5693, MIR5006, MIR548AR, MIR548AS, LINC00558, LINC00563, LINC00565, LINC00441, RNU6-52P, RNU6-53P, RNU6-55P, RNU6-56P, RNU6-57P, RNU6-58P, RNU6-59P, RNU6-63P, RNU6-64P, RNU6-66P, RNU6-67P, RNU6-68P, RNU6-69P, RNU6-71P, RNU6-72P, RNU6-75P, RNU6-76P, RNU6-78P, RNU6-79P, RNU6-81P, RNU6-82P, RNU6-83P, MED4-AS1, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, LINC00297, CLYBL-AS2, PCDH9-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, LINC00351, LINC00353, LINC00358, LINC00364, LINC00365, LINC00366, LINC00379, LINC00381, LINC00392, LINC00393, LINC00395, LINC00398, LINC00400, LINC00411, LINC00423, LINC00433, LINC00434, LINC00440, LINC00443, LINC00446, LINC00448, LINC00454, LINC00457, LINC00424, LINC00559, LINC00571, CLDN10-AS1, DIAPH3-AS1, DIAPH3-AS2, COL4A2-AS1, ATP11A-AS1, NDFIP2-AS1, MYCBP2-AS1, RNF219-AS1, ARHGEF7-AS1, SPATA13-AS1, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, FAM155A-IT1, SMIM2-IT1, PCCA-AS1, NALCN-AS1, LINC00348, MYO16-AS1, LINC00359, LOC101060553, LINC00676, LINC01080, LOC101926897, LINC00378, LMO7-AS1, LINC01069, LINC00382, LINC01049, LOC101927248, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LOC101928697, LINC01070, LOC101928730, LINC01043, LOC101928841, LINC00463, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, SUCLA2-AS1, LOC101929657, LINC00380, LINC00367, LINC00397, MIR8073, MIR8075, MIR8079, LINC01053, LINC00412, LINC01065, LINC01038, LINC01232, LOC103191607, LINC00456, LINC01046, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01058, LINC01068, LINC01055, LINC01075, LINC01044, LINC00363, LINC00399, LMO7DN-IT1, LINC01309, LINC00431, LINC01072, LINC00375, , LINC00428, LINC01039, LINC01054, LINC00376, SCEL-AS1, F10-AS1, LOC105370306, LINC01040, LINC00370
See casesPathogenic
(Jun 18, 2013)
no assertion criteria provided
8.
GRCh37:
Chr13:20246074-115105806
GRCh38:
Chr13:19671934-114340331
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, BTF3P11, 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, GUCY1B2, 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, 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, NUPL1, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFP, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, LECT1, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPG20, 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, , TNFRSF19, SUPT20H, ANKRD10, RAB20, CARKD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, KIAA0226L, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, N4BP2L2-IT2, TEX29, LINC00284, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, CTAGE3P, LRRC63, N6AMT2, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, LINC00346, CHAMP1, SIAH3, KCNRG, LINC00282, SLC46A3, UBAC2, LINC00550, LINC00347, C1QTNF9, FREM2, NEK5, TMEM255B, 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, C1QTNF9B-AS1, SNORA27, TSC22D1-AS1, MIR4500HG, LINC00452, CCDC168, URAD, ZAR1L, LINC00598, LINC00371, SERPINE3, GAS6-AS1, SNORA31, MIR621, MIR622, MIR623, LINC00460, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, IRG1, LOC100129307, LINC00462, COL4A2-AS2, LINC00552, , LINC00543, LINC00426, TRE-TTC2-1, TRN-GTT2-4, TRF-GAA1-3, TRE-TTC1-1, TPT1-AS1, PAN3-AS1, DNAJC3-AS1, UBAC2-AS1, MCF2L-AS1, MIR1297, MIR1267, MIR759, MIR2276, MIR320D1, MIR4306, MIR3168, MIR3170, MIR4305, MIR3169, MIR3665, MIR3613, ANKRD10-IT1, EDNRB-AS1, RBM26-AS1, LINC00403, GAS6-AS2, LINC00540, SACS-AS1, LINC00327, TEX26-AS1, FRY-AS1, LINC00445, SPG20-AS1, VWA8-AS1, INTS6-AS1, LINC00458, SOX21-AS1, CPB2-AS1, CCDC169-SOHLH2, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4704, MIR4502, MIR4705, MIR548X2, MIR4499, MIR4703, LINC00539, MIR5007, MIR5693, MIR5006, MIR548AR, MIR548AS, LINC00558, LINC00563, LINC00565, LINC00441, RNU6-53P, RNU6-56P, RNU6-57P, RNU6-58P, RNU6-59P, RNU6-63P, RNU6-64P, RNU6-66P, RNU6-67P, RNU6-68P, RNU6-69P, RNU6-71P, RNU6-72P, RNU6-75P, RNU6-78P, RNU6-79P, RNU6-81P, RNU6-82P, RNU6-83P, MED4-AS1, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, LINC00297, CLYBL-AS2, PCDH9-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, LINC00351, LINC00353, LINC00358, LINC00364, LINC00365, LINC00366, LINC00379, LINC00381, LINC00392, LINC00393, LINC00395, LINC00398, LINC00400, LINC00411, LINC00423, LINC00433, LINC00434, LINC00440, LINC00443, LINC00446, LINC00448, LINC00454, LINC00457, LINC00424, LINC00559, LINC00571, CLDN10-AS1, DIAPH3-AS1, DIAPH3-AS2, COL4A2-AS1, ATP11A-AS1, NDFIP2-AS1, MYCBP2-AS1, RNF219-AS1, ARHGEF7-AS1, SPATA13-AS1, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, FAM155A-IT1, SMIM2-IT1, PCCA-AS1, NALCN-AS1, LINC00348, MYO16-AS1, LINC00359, LOC101060553, LINC00676, LINC01080, LOC101926897, LINC00378, LMO7-AS1, LINC01069, LINC00382, LINC01049, LOC101927248, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LINC01070, LOC101928730, LINC01043, LOC101928841, LINC00463, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, SUCLA2-AS1, LOC101929657, LINC00380, LINC00367, LINC00397, MIR8073, MIR8075, MIR8079, LINC01053, LINC00412, LINC01065, LINC01038, LINC01232, LOC103191607, LINC00456, LINC01046, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01058, LINC01068, LINC01055, LINC01075, LINC01044, LINC00363, LINC00399, LMO7DN-IT1, LINC01309, LINC00431, LINC01072, LINC00375, , LINC00428, LINC01039, LINC01054, LINC00376, SCEL-AS1, F10-AS1, LOC105370306, LINC01040, LINC00370
See casesPathogenic
(Nov 26, 2012)
no assertion criteria provided
9.
GRCh37:
Chr13:39088314-51999350
GRCh38:
Chr13:38514177-51425214
See casesPathogenic
(Mar 4, 2013)
no assertion criteria provided
10.
GRCh37:
Chr13:38438363-68537920
GRCh38:
Chr13:37864226-67963788
ATP7B, RCBTB2, CPB2, ELF1, ESD, FOXO1, MLNR, GTF2F2, GUCY1B2, HTR2A, KPNA3, LCP1, NEK3, PCDH8, PCDH9, RB1, TPT1, TRPC4, TNFSF11, SUCLA2, DLEU2, TSC22D1, ITM2B, MTRF1, UTP14C, LPAR6, SLC25A15, LHFP, TRIM13, MRPS31, DLEU1, OLFM4, SUGT1, LECT1, WBP4, AKAP11, FNDC3A, VWA8, ZC3H13, LRCH1, INTS6, CKAP2, NUFIP1, PCDH17, RGCC, MED4, DNAJC15, VPS36, PHF11, UFM1, ENOX1, RCBTB1, NUDT15, , THSD1, CYSLTR2, SPRYD7, COG6, PCDH20, SMIM2, NAA16, RNASEH2B, DHRS12, KIAA0226L, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KBTBD7, EBPL, KBTBD6, EPSTI1, ARL11, WDFY2, LINC00284, PRR20A, FAM216B, LACC1, LINC00330, HNRNPA1L2, DGKH, CCDC122, STOML3, ERICH6B, SPERT, DLEU7, FAM124A, CTAGE3P, LRRC63, SLC25A30, SIAH3, KCNRG, LINC00282, FREM2, NEK5, KCTD4, NHLRC3, SERP2, LINC00548, TUSC8, MIR15A, MIR16-1, ALG11, TSC22D1-AS1, LINC00598, LINC00371, SERPINE3, SNORA31, MIR621, PRR20B, PRR20C, PRR20D, PRR20E, LINC00462, TRE-TTC2-1, TRE-TTC1-1, TPT1-AS1, MIR1297, MIR759, MIR320D1, MIR3168, MIR4305, MIR3169, MIR3613, VWA8-AS1, INTS6-AS1, LINC00458, CPB2-AS1, MIR4704, MIR548X2, MIR4703, MIR5007, MIR5693, MIR5006, LINC00558, LINC00563, LINC00441, RNU6-56P, RNU6-57P, RNU6-68P, RNU6-69P, RNU6-81P, MED4-AS1, PCDH9-AS2, FREM2-AS1, DLEU7-AS1, HTR2A-AS1, PCDH9-AS3, PCDH9-AS4, LINC00332, ENOX1-AS2, LINC00358, LINC00364, LINC00366, LINC00395, LINC00400, LINC00434, LINC00448, LINC00571, DIAPH3-AS1, DIAPH3-AS2, RNASEH2B-AS1, SLC25A30-AS1, SMIM2-IT1, LOC101926897, LINC00378, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, SUCLA2-AS1, LOC101929657, MIR8079, LINC01065, LOC103191607, LINC01050, DLEU1-AS1, LINC01055, LINC01075, LINC00428, LINC00376
See casesPathogenic
(Jan 28, 2013)
no assertion criteria provided
11.
GRCh37:
Chr13:19030180-115105760
GRCh38:
Chr13:18456040-114340285
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, BTF3P11, 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, GUCY1B2, 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, NUPL1, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFP, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, LECT1, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPG20, 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, , TNFRSF19, SUPT20H, ANKRD10, RAB20, CARKD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, KIAA0226L, 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, LINC00284, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, CTAGE3P, LRRC63, N6AMT2, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, LINC00346, CHAMP1, SIAH3, KCNRG, LINC00282, 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, C1QTNF9B-AS1, SNORA27, TSC22D1-AS1, MIR4500HG, LINC00452, CCDC168, URAD, ZAR1L, LINC00598, LINC00371, SERPINE3, GAS6-AS1, SNORA31, MIR621, MIR622, MIR623, LINC00460, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, IRG1, LOC100129307, LINC00462, COL4A2-AS2, LINC00552, , LINC00543, LINC00426, TRE-TTC2-1, TRN-GTT2-4, TRF-GAA1-3, TRE-TTC1-1, TPT1-AS1, LINC00421, PAN3-AS1, DNAJC3-AS1, UBAC2-AS1, MCF2L-AS1, MIR1297, MIR1267, MIR759, MIR2276, MIR320D1, MIR4306, MIR3168, MIR3170, MIR4305, MIR3169, MIR3665, MIR3613, ANKRD10-IT1, EDNRB-AS1, RBM26-AS1, LINC00403, GAS6-AS2, LINC00540, SACS-AS1, LINC00327, TEX26-AS1, FRY-AS1, LINC00445, SPG20-AS1, VWA8-AS1, INTS6-AS1, LINC00458, SOX21-AS1, CPB2-AS1, CCDC169-SOHLH2, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4704, MIR4502, MIR4705, MIR548X2, MIR4499, MIR4703, LINC00408, LINC00539, MIR5007, MIR5693, MIR5006, MIR548AR, MIR548AS, LINC00558, LINC00563, LINC00565, LINC00441, RNU6-52P, RNU6-53P, RNU6-55P, RNU6-56P, RNU6-57P, RNU6-58P, RNU6-59P, RNU6-63P, RNU6-64P, RNU6-66P, RNU6-67P, RNU6-68P, RNU6-69P, RNU6-71P, RNU6-72P, RNU6-75P, RNU6-76P, RNU6-78P, RNU6-79P, RNU6-81P, RNU6-82P, RNU6-83P, MED4-AS1, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, LINC00297, CLYBL-AS2, PCDH9-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, LINC00351, LINC00353, LINC00358, LINC00364, LINC00365, LINC00366, LINC00379, LINC00381, LINC00392, LINC00393, LINC00395, LINC00398, LINC00400, LINC00411, LINC00417, LINC00423, LINC00433, LINC00434, LINC00440, LINC00443, LINC00446, LINC00448, LINC00454, LINC00457, LINC00424, LINC00559, LINC00571, CLDN10-AS1, DIAPH3-AS1, DIAPH3-AS2, COL4A2-AS1, ATP11A-AS1, NDFIP2-AS1, MYCBP2-AS1, RNF219-AS1, ARHGEF7-AS1, SPATA13-AS1, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, FAM155A-IT1, SMIM2-IT1, PCCA-AS1, NALCN-AS1, LINC00348, MYO16-AS1, LINC00359, LOC101060553, LINC00676, LINC01080, LOC101926897, LINC00378, LMO7-AS1, LINC01069, LINC00382, LINC01049, LOC101927248, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LOC101928697, LINC01070, LOC101928730, LINC01043, LOC101928841, LINC00463, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, SUCLA2-AS1, LOC101929657, LINC00380, LINC00367, LINC00397, MIR8073, MIR8075, MIR8079, LINC01053, LINC00412, LINC01065, LINC01038, LINC01232, LOC103191607, LINC00456, LINC01046, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01058, LINC01068, LINC01055, LINC01075, LINC01044, LINC00363, LINC00399, LMO7DN-IT1, LINC01309, LINC00431, LINC01072, LINC00375, , LINC00428, LINC01039, LINC01054, LINC00376, SCEL-AS1, F10-AS1, LOC105370306, LINC01040, LINC00370
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
12.
GRCh37:
Chr13:20407270-115092581
GRCh38:
Chr13:19833130-114327106
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, BTF3P11, 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, GUCY1B2, 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, 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, NUPL1, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFP, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, LECT1, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPG20, 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, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, NUDT15, , TNFRSF19, SUPT20H, ANKRD10, RAB20, CARKD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, KIAA0226L, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, N4BP2L2-IT2, TEX29, LINC00284, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, CTAGE3P, LRRC63, N6AMT2, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, LINC00346, CHAMP1, SIAH3, KCNRG, LINC00282, SLC46A3, UBAC2, LINC00550, LINC00347, C1QTNF9, FREM2, NEK5, TMEM255B, 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, C1QTNF9B-AS1, SNORA27, TSC22D1-AS1, MIR4500HG, LINC00452, CCDC168, URAD, ZAR1L, LINC00598, LINC00371, SERPINE3, GAS6-AS1, SNORA31, MIR621, MIR622, MIR623, LINC00460, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, IRG1, LOC100129307, LINC00462, COL4A2-AS2, LINC00552, , LINC00543, LINC00426, TRE-TTC2-1, TRN-GTT2-4, TRF-GAA1-3, TRE-TTC1-1, TPT1-AS1, PAN3-AS1, DNAJC3-AS1, UBAC2-AS1, MCF2L-AS1, MIR1297, MIR1267, MIR759, MIR2276, MIR320D1, MIR4306, MIR3168, MIR3170, MIR4305, MIR3169, MIR3665, MIR3613, ANKRD10-IT1, EDNRB-AS1, RBM26-AS1, LINC00403, GAS6-AS2, LINC00540, SACS-AS1, LINC00327, TEX26-AS1, FRY-AS1, LINC00445, SPG20-AS1, VWA8-AS1, INTS6-AS1, LINC00458, SOX21-AS1, CPB2-AS1, CCDC169-SOHLH2, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4704, MIR4502, MIR4705, MIR548X2, MIR4499, MIR4703, LINC00539, MIR5007, MIR5693, MIR5006, MIR548AR, MIR548AS, LINC00558, LINC00563, LINC00565, LINC00441, RNU6-53P, RNU6-56P, RNU6-57P, RNU6-58P, RNU6-59P, RNU6-63P, RNU6-64P, RNU6-66P, RNU6-67P, RNU6-68P, RNU6-69P, RNU6-71P, RNU6-72P, RNU6-75P, RNU6-78P, RNU6-79P, RNU6-81P, RNU6-82P, RNU6-83P, MED4-AS1, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, LINC00297, CLYBL-AS2, PCDH9-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, LINC00351, LINC00353, LINC00358, LINC00364, LINC00365, LINC00366, LINC00379, LINC00381, LINC00392, LINC00393, LINC00395, LINC00398, LINC00400, LINC00411, LINC00423, LINC00433, LINC00434, LINC00440, LINC00443, LINC00446, LINC00448, LINC00454, LINC00457, LINC00424, LINC00559, LINC00571, CLDN10-AS1, DIAPH3-AS1, DIAPH3-AS2, COL4A2-AS1, ATP11A-AS1, NDFIP2-AS1, MYCBP2-AS1, RNF219-AS1, ARHGEF7-AS1, SPATA13-AS1, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, FAM155A-IT1, SMIM2-IT1, PCCA-AS1, NALCN-AS1, LINC00348, MYO16-AS1, LINC00359, LOC101060553, LINC00676, LINC01080, LOC101926897, LINC00378, LMO7-AS1, LINC01069, LINC00382, LINC01049, LOC101927248, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LINC01070, LOC101928730, LINC01043, LOC101928841, LINC00463, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, SUCLA2-AS1, LOC101929657, LINC00380, LINC00367, LINC00397, MIR8073, MIR8075, MIR8079, LINC01053, LINC00412, LINC01065, LINC01038, LINC01232, LOC103191607, LINC00456, LINC01046, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01058, LINC01068, LINC01055, LINC01075, LINC01044, LINC00363, LINC00399, LMO7DN-IT1, LINC01309, LINC00431, LINC01072, LINC00375, , LINC00428, LINC01039, LINC00376, SCEL-AS1, F10-AS1, LOC105370306, LINC01040, LINC00370
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
13.
GRCh37:
Chr13:31592297-49065340
GRCh38:
Chr13:31018160-48491204
See casesPathogenic
(Jun 1, 2012)
no assertion criteria provided
14.
GRCh37:
Chr13:33105623-87409299
GRCh38:
Chr13:32531486-86757044
ATP7B, KLF5, BTF3P11, RCBTB2, CLN5, CPB2, DACH1, EDNRB, ELF1, ESD, FOXO1, MLNR, GTF2F2, GUCY1B2, HTR2A, KPNA3, LCP1, LMO7, MAB21L1, SMAD9, NEK3, PCDH8, PCDH9, POU4F1, RB1, RFC3, RFXAP, ATXN8OS, TPT1, TRPC4, UCHL3, TNFSF11, SCEL, SUCLA2, DLEU2, TSC22D1, CCNA1, DCLK1, KL, ITM2B, MTRF1, UTP14C, TBC1D4, LPAR6, SLC25A15, LHFP, TRIM13, MRPS31, SPRY2, DLEU1, N4BP2L2, PIBF1, OLFM4, POSTN, SUGT1, LECT1, WBP4, AKAP11, KLF12, EXOSC8, FNDC3A, DIS3, PDS5B, MYCBP2, VWA8, ZC3H13, SPG20, LRCH1, FBXL3, INTS6, CKAP2, NUFIP1, NBEA, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, PHF11, UFM1, NDFIP2, SOHLH2, ENOX1, RCBTB1, NUDT15, , SUPT20H, THSD1, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, PCDH20, SMIM2, RNF219, NAA16, RNASEH2B, DHRS12, BORA, KIAA0226L, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KBTBD7, SLITRK6, EBPL, KBTBD6, STARD13, EPSTI1, SLITRK1, KCTD12, ARL11, WDFY2, LINC00284, CSNK1A1L, SLAIN1, PRR20A, FAM216B, LACC1, LINC00330, HNRNPA1L2, DGKH, CCDC122, STOML3, COMMD6, ERICH6B, SPERT, DLEU7, FAM124A, CTAGE3P, LRRC63, SLC25A30, SIAH3, KCNRG, LINC00282, LINC00550, LINC00347, FREM2, NEK5, KCTD4, NHLRC3, SERP2, SERTM1, LINC00547, LINC00548, TUSC8, MIR15A, MIR16-1, ALG11, MZT1, TSC22D1-AS1, LINC00598, LINC00371, SERPINE3, SNORA31, MIR621, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, IRG1, LOC100129307, LINC00462, TRE-TTC2-1, TRE-TTC1-1, TPT1-AS1, MIR1297, MIR759, MIR320D1, MIR3168, MIR4305, MIR3169, MIR3665, MIR3613, EDNRB-AS1, RBM26-AS1, LINC00445, SPG20-AS1, VWA8-AS1, INTS6-AS1, LINC00458, CPB2-AS1, CCDC169-SOHLH2, MIR4704, MIR548X2, MIR4703, MIR5007, MIR5693, MIR5006, LINC00558, LINC00563, LINC00441, RNU6-56P, RNU6-57P, RNU6-66P, RNU6-67P, RNU6-68P, RNU6-69P, RNU6-71P, RNU6-72P, RNU6-79P, RNU6-81P, MED4-AS1, PCDH9-AS2, FREM2-AS1, DLEU7-AS1, HTR2A-AS1, PCDH9-AS3, PCDH9-AS4, LINC00331, LINC00332, LINC00333, ENOX1-AS2, LINC00351, LINC00358, LINC00364, LINC00366, LINC00381, LINC00392, LINC00393, LINC00395, LINC00400, LINC00423, LINC00434, LINC00446, LINC00448, LINC00457, LINC00571, DIAPH3-AS1, DIAPH3-AS2, NDFIP2-AS1, MYCBP2-AS1, RNF219-AS1, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, SMIM2-IT1, LINC00348, LINC01080, LOC101926897, LINC00378, LMO7-AS1, LINC01069, LINC00382, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, SUCLA2-AS1, LOC101929657, MIR8079, LINC01065, LINC01038, LOC103191607, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01068, LINC01055, LINC01075, LMO7DN-IT1, LINC00375, LINC00428, LINC00376, SCEL-AS1
See casesPathogenic
(Sep 18, 2012)
no assertion criteria provided
15.
GRCh37:
Chr13:41516434-115105806
GRCh38:
Chr13:40942298-114340331
ATP4B, ATP7B, KLF5, BTF3P11, RCBTB2, CLN5, COL4A1, COL4A2, CPB2, DACH1, DCT, GPR183, EDNRB, EFNB2, ELF1, ERCC5, ESD, F7, F10, FGF14, GPC5, GAS6, GPR18, MLNR, GTF2F2, GUCY1B2, HTR2A, ING1, KPNA3, IPO5, LAMP1, LCP1, LIG4, LMO7, NEK3, PCCA, PCDH8, PCDH9, POU4F1, DNAJC3, RAP2A, RB1, GRK1, ATXN8OS, SLC10A2, SLC15A1, SOX1, TFDP1, TPP2, TPT1, UCHL3, ZIC2, STK24, CUL4A, TNFSF11, IRS2, SCEL, SUCLA2, DLEU2, TSC22D1, PROZ, ARHGEF7, CDC16, CLDN10, ITGBL1, TM9SF2, ITM2B, MTRF1, UTP14C, TBC1D4, GPC6, MBNL2, FARP1, LPAR6, TRIM13, SPRY2, ABCC4, DLEU1, TUBGCP3, PIBF1, OLFM4, TNFSF13B, SUGT1, LECT1, SOX21, WBP4, AKAP11, KLF12, RASA3, FNDC3A, DZIP1, DIS3, MYO16, MYCBP2, VWA8, ZC3H13, LRCH1, ATP11A, MCF2L, DOCK9, TGDS, SLITRK5, FBXL3, INTS6, CKAP2, NUFIP1, OXGR1, PCDH17, RGCC, MED4, DNAJC15, VPS36, PHF11, NDFIP2, BIVM, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, NUDT15, , ANKRD10, RAB20, CARKD, UGGT2, PCID2, THSD1, CYSLTR2, SPRYD7, KLHL1, RBM26, PCDH20, UPF3A, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, KIAA0226L, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KBTBD7, SLITRK6, EBPL, TMTC4, ABHD13, ZIC5, GGACT, KBTBD6, TEX30, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, TEX29, LINC00284, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, DGKH, CCDC122, GPR180, COMMD6, CLYBL, METTL21C, ERICH6B, SPERT, DLEU7, FAM124A, CTAGE3P, LRRC63, SLC25A30, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, LINC00346, CHAMP1, SIAH3, KCNRG, LINC00282, UBAC2, LINC00550, LINC00347, NEK5, TMEM255B, KCTD4, SERP2, TUSC8, ATP11AUN, MIR15A, MIR16-1, MIR17, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, MIR17HG, ALG11, MZT1, TSC22D1-AS1, MIR4500HG, LINC00452, CCDC168, LINC00371, SERPINE3, GAS6-AS1, SNORA31, MIR622, MIR623, LINC00460, FAM155A, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, IRG1, LOC100129307, LINC00462, COL4A2-AS2, LINC00552, , TRE-TTC2-1, TRF-GAA1-3, TRE-TTC1-1, TPT1-AS1, DNAJC3-AS1, UBAC2-AS1, MCF2L-AS1, MIR1297, MIR1267, MIR759, MIR4306, MIR3168, MIR3170, MIR3169, MIR3665, MIR3613, ANKRD10-IT1, EDNRB-AS1, RBM26-AS1, LINC00403, GAS6-AS2, VWA8-AS1, INTS6-AS1, LINC00458, SOX21-AS1, CPB2-AS1, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4704, MIR4502, MIR4705, MIR548X2, MIR4703, MIR5007, MIR5693, MIR5006, MIR548AR, MIR548AS, LINC00558, LINC00563, LINC00565, LINC00441, RNU6-57P, RNU6-66P, RNU6-67P, RNU6-68P, RNU6-69P, RNU6-72P, RNU6-75P, RNU6-79P, RNU6-81P, RNU6-83P, MED4-AS1, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, CLYBL-AS2, PCDH9-AS2, GRTP1-AS1, STK24-AS1, DLEU7-AS1, FGF14-AS1, HTR2A-AS1, PCDH9-AS3, PCDH9-AS4, DOCK9-AS1, LINC00331, LINC00333, ENOX1-AS2, LINC00351, LINC00353, LINC00358, LINC00364, LINC00379, LINC00381, LINC00392, LINC00393, LINC00395, LINC00400, LINC00411, LINC00433, LINC00434, LINC00440, LINC00443, LINC00446, LINC00448, LINC00454, LINC00559, CLDN10-AS1, DIAPH3-AS1, DIAPH3-AS2, COL4A2-AS1, ATP11A-AS1, NDFIP2-AS1, MYCBP2-AS1, RNF219-AS1, ARHGEF7-AS1, RNASEH2B-AS1, SLC25A30-AS1, FAM155A-IT1, SMIM2-IT1, PCCA-AS1, NALCN-AS1, LINC00348, MYO16-AS1, LINC00359, LOC101060553, LINC00676, LINC01080, LOC101926897, LINC00378, LMO7-AS1, LINC01069, LINC00382, LINC01049, LOC101927248, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LINC01070, LOC101928730, LINC01043, LOC101928841, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, SUCLA2-AS1, LOC101929657, LINC00380, LINC00397, MIR8073, MIR8075, MIR8079, LINC01065, LINC01038, LINC01232, LOC103191607, LINC00456, LINC01050, LINC00383, DLEU1-AS1, LINC00377, LINC01068, LINC01055, LINC01075, LINC01044, LINC00363, LINC00399, LMO7DN-IT1, LINC01309, LINC00431, LINC00375, , LINC00428, LINC01039, LINC01054, LINC00376, SCEL-AS1, F10-AS1, LOC105370306, LINC01040, LINC00370
See casesPathogenic
(Oct 26, 2011)
no assertion criteria provided
16.
GRCh37:
Chr13:41717956-85711687
GRCh38:
Chr13:41143820-85137552
ATP7B, KLF5, BTF3P11, RCBTB2, CLN5, CPB2, DACH1, EDNRB, ESD, MLNR, GTF2F2, GUCY1B2, HTR2A, KPNA3, LCP1, LMO7, NEK3, PCDH8, PCDH9, POU4F1, RB1, ATXN8OS, TPT1, UCHL3, TNFSF11, SCEL, SUCLA2, DLEU2, TSC22D1, ITM2B, MTRF1, UTP14C, TBC1D4, LPAR6, TRIM13, SPRY2, DLEU1, PIBF1, OLFM4, SUGT1, LECT1, AKAP11, KLF12, FNDC3A, DIS3, MYCBP2, VWA8, ZC3H13, LRCH1, FBXL3, INTS6, CKAP2, NUFIP1, PCDH17, RGCC, MED4, DNAJC15, VPS36, PHF11, NDFIP2, ENOX1, RCBTB1, NUDT15, , THSD1, CYSLTR2, SPRYD7, KLHL1, RBM26, PCDH20, SMIM2, RNF219, NAA16, RNASEH2B, DHRS12, BORA, KIAA0226L, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KBTBD7, EBPL, EPSTI1, SLITRK1, KCTD12, ARL11, WDFY2, LINC00284, SLAIN1, PRR20A, FAM216B, LACC1, LINC00330, HNRNPA1L2, DGKH, CCDC122, COMMD6, ERICH6B, SPERT, DLEU7, FAM124A, CTAGE3P, LRRC63, SLC25A30, SIAH3, KCNRG, LINC00282, LINC00550, LINC00347, NEK5, KCTD4, SERP2, TUSC8, MIR15A, MIR16-1, ALG11, MZT1, TSC22D1-AS1, LINC00371, SERPINE3, SNORA31, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, IRG1, LOC100129307, LINC00462, TRE-TTC2-1, TPT1-AS1, MIR1297, MIR759, MIR3169, MIR3665, MIR3613, EDNRB-AS1, RBM26-AS1, VWA8-AS1, INTS6-AS1, LINC00458, CPB2-AS1, MIR4704, MIR548X2, MIR4703, MIR5007, MIR5693, MIR5006, LINC00558, LINC00563, LINC00441, RNU6-57P, RNU6-66P, RNU6-67P, RNU6-68P, RNU6-69P, RNU6-79P, RNU6-81P, MED4-AS1, PCDH9-AS2, DLEU7-AS1, HTR2A-AS1, PCDH9-AS3, PCDH9-AS4, LINC00331, LINC00333, ENOX1-AS2, LINC00358, LINC00364, LINC00381, LINC00392, LINC00393, LINC00395, LINC00400, LINC00434, LINC00446, LINC00448, DIAPH3-AS1, DIAPH3-AS2, NDFIP2-AS1, MYCBP2-AS1, RNF219-AS1, RNASEH2B-AS1, SLC25A30-AS1, SMIM2-IT1, LINC00348, LINC01080, LOC101926897, LINC00378, LMO7-AS1, LINC01069, LINC00382, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, SUCLA2-AS1, LOC101929657, MIR8079, LINC01065, LINC01038, LOC103191607, LINC01050, LINC00383, DLEU1-AS1, LINC00377, LINC01068, LINC01055, LINC01075, LMO7DN-IT1, LINC00375, LINC00428, LINC00376, SCEL-AS1
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
17.
GRCh37:
Chr13:32127745-66044499
GRCh38:
Chr13:31553608-65470367
ATP7B, BRCA2, RCBTB2, CPB2, ELF1, ESD, FOXO1, MLNR, GTF2F2, GUCY1B2, HTR2A, KPNA3, LCP1, MAB21L1, SMAD9, NEK3, PCDH8, RB1, RFC3, RFXAP, TPT1, TRPC4, TNFSF11, SUCLA2, DLEU2, TSC22D1, CCNA1, DCLK1, KL, ITM2B, MTRF1, UTP14C, FRY, LPAR6, SLC25A15, LHFP, TRIM13, MRPS31, DLEU1, N4BP2L2, OLFM4, POSTN, SUGT1, LECT1, WBP4, AKAP11, EXOSC8, FNDC3A, PDS5B, VWA8, ZC3H13, SPG20, LRCH1, INTS6, CKAP2, NUFIP1, NBEA, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, PHF11, UFM1, SOHLH2, ENOX1, RCBTB1, NUDT15, , SUPT20H, THSD1, CYSLTR2, SPRYD7, COG6, PCDH20, SMIM2, NAA16, RNASEH2B, DHRS12, KIAA0226L, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KBTBD7, EBPL, KBTBD6, STARD13, N4BP2L1, EPSTI1, ARL11, WDFY2, N4BP2L2-IT2, LINC00284, CSNK1A1L, RXFP2, PRR20A, FAM216B, LACC1, LINC00330, HNRNPA1L2, DGKH, CCDC122, STOML3, ERICH6B, SPERT, DLEU7, FAM124A, CTAGE3P, LRRC63, SLC25A30, SIAH3, KCNRG, LINC00282, FREM2, NEK5, KCTD4, NHLRC3, SERP2, SERTM1, LINC00547, LINC00548, TUSC8, MIR15A, MIR16-1, ALG11, TSC22D1-AS1, ZAR1L, LINC00598, LINC00371, SERPINE3, SNORA31, MIR621, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LINC00462, TRE-TTC2-1, TRE-TTC1-1, TPT1-AS1, MIR1297, MIR759, MIR320D1, MIR3168, MIR4305, MIR3169, MIR3613, FRY-AS1, LINC00445, SPG20-AS1, VWA8-AS1, INTS6-AS1, LINC00458, CPB2-AS1, CCDC169-SOHLH2, MIR4703, MIR5007, MIR5693, MIR5006, LINC00558, LINC00563, LINC00441, RNU6-56P, RNU6-57P, RNU6-68P, RNU6-69P, RNU6-71P, RNU6-81P, MED4-AS1, FREM2-AS1, DLEU7-AS1, HTR2A-AS1, LINC00332, ENOX1-AS2, LINC00358, LINC00366, LINC00395, LINC00400, LINC00423, LINC00434, LINC00448, LINC00457, LINC00571, DIAPH3-AS1, DIAPH3-AS2, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, SMIM2-IT1, LOC101926897, LINC00378, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, SUCLA2-AS1, LOC101929657, MIR8079, LINC01065, LOC103191607, LINC01050, DLEU1-AS1, LINC01048, LINC01055, LINC01075, LINC00428, LINC00376
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
18.
GRCh37:
Chr13:19020001-115092648
GRCh38:
Chr13:18445862-114327173
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, BTF3P11, 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, GUCY1B2, 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, NUPL1, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFP, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, LECT1, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPG20, 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, , TNFRSF19, SUPT20H, ANKRD10, RAB20, CARKD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, KIAA0226L, 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, LINC00284, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, CTAGE3P, LRRC63, N6AMT2, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, LINC00346, CHAMP1, SIAH3, KCNRG, LINC00282, 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, C1QTNF9B-AS1, SNORA27, TSC22D1-AS1, MIR4500HG, LINC00452, CCDC168, URAD, ZAR1L, LINC00598, LINC00371, SERPINE3, GAS6-AS1, SNORA31, MIR621, MIR622, MIR623, LINC00460, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, IRG1, LOC100129307, LINC00462, COL4A2-AS2, LINC00552, , LINC00543, LINC00426, TRE-TTC2-1, TRN-GTT2-4, TRF-GAA1-3, TRE-TTC1-1, TPT1-AS1, LINC00421, PAN3-AS1, DNAJC3-AS1, UBAC2-AS1, MCF2L-AS1, MIR1297, MIR1267, MIR759, MIR2276, MIR320D1, MIR4306, MIR3168, MIR3170, MIR4305, MIR3169, MIR3665, MIR3613, ANKRD10-IT1, EDNRB-AS1, RBM26-AS1, LINC00403, GAS6-AS2, LINC00540, SACS-AS1, LINC00327, TEX26-AS1, FRY-AS1, LINC00445, SPG20-AS1, VWA8-AS1, INTS6-AS1, LINC00458, SOX21-AS1, CPB2-AS1, CCDC169-SOHLH2, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4704, MIR4502, MIR4705, MIR548X2, MIR4499, MIR4703, LINC00408, LINC00539, MIR5007, MIR5693, MIR5006, MIR548AR, MIR548AS, LINC00558, LINC00563, LINC00565, LINC00441, RNU6-52P, RNU6-53P, RNU6-55P, RNU6-56P, RNU6-57P, RNU6-58P, RNU6-59P, RNU6-63P, RNU6-64P, RNU6-66P, RNU6-67P, RNU6-68P, RNU6-69P, RNU6-71P, RNU6-72P, RNU6-75P, RNU6-76P, RNU6-78P, RNU6-79P, RNU6-81P, RNU6-82P, RNU6-83P, MED4-AS1, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, LINC00297, CLYBL-AS2, PCDH9-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, LINC00351, LINC00353, LINC00358, LINC00364, LINC00365, LINC00366, LINC00379, LINC00381, LINC00392, LINC00393, LINC00395, LINC00398, LINC00400, LINC00411, LINC00417, LINC00423, LINC00433, LINC00434, LINC00440, LINC00443, LINC00446, LINC00448, LINC00454, LINC00457, LINC00424, LINC00559, LINC00571, CLDN10-AS1, DIAPH3-AS1, DIAPH3-AS2, COL4A2-AS1, ATP11A-AS1, NDFIP2-AS1, MYCBP2-AS1, RNF219-AS1, ARHGEF7-AS1, SPATA13-AS1, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, FAM155A-IT1, SMIM2-IT1, PCCA-AS1, NALCN-AS1, LINC00348, MYO16-AS1, LINC00359, LOC101060553, LINC00676, LINC01080, LOC101926897, LINC00378, LMO7-AS1, LINC01069, LINC00382, LINC01049, LOC101927248, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LOC101928697, LINC01070, LOC101928730, LINC01043, LOC101928841, LINC00463, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, SUCLA2-AS1, LOC101929657, LINC00380, LINC00367, LINC00397, MIR8073, MIR8075, MIR8079, LINC01053, LINC00412, LINC01065, LINC01038, LINC01232, LOC103191607, LINC00456, LINC01046, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01058, LINC01068, LINC01055, LINC01075, LINC01044, LINC00363, LINC00399, LMO7DN-IT1, LINC01309, LINC00431, LINC01072, LINC00375, , LINC00428, LINC01039, LINC00376, SCEL-AS1, F10-AS1, LOC105370306, LINC01040, LINC00370
See casesPathogenic
(Jan 27, 2011)
no assertion criteria provided
19.
GRCh37:
Chr13:20407270-115064089
GRCh38:
Chr13:19833130-114298614
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, BTF3P11, 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, GUCY1B2, 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, 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, NUPL1, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFP, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, LECT1, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPG20, 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, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, NUDT15, , TNFRSF19, SUPT20H, ANKRD10, RAB20, CARKD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, KIAA0226L, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, N4BP2L2-IT2, TEX29, LINC00284, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, CTAGE3P, LRRC63, N6AMT2, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, LINC00346, SIAH3, KCNRG, LINC00282,