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Items: 62

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr13:78590089-115107733
not providedPathogenic
(Dec 29, 2017)
no assertion criteria provided
2.
GRCh37:
Chr13:94703767-109731879
not providedPathogenic
(Aug 10, 2017)
no assertion criteria provided
3.
GRCh37:
Chr13:83435292-115107733
See casesPathogenic
(Mar 5, 2015)
no assertion criteria provided
4.
GRCh37:
Chr13:98607855-104370539
See casesLikely pathogenic
(Jun 22, 2015)
no assertion criteria provided
5.
GRCh37:
Chr13:96586481-115107733
See casesPathogenic
(Mar 16, 2015)
no assertion criteria provided
6.
GRCh37:
Chr13:56431743-115107733
See casesPathogenic
(Jul 15, 2015)
no assertion criteria provided
7.
GRCh37:
Chr13:94474530-115107733
See casesPathogenic
(Aug 25, 2014)
no assertion criteria provided
8.
GRCh37:
Chr13:85176519-115107733
See casesPathogenic
(Apr 22, 2014)
no assertion criteria provided
9.
GRCh37:
Chr13:103170306-115107733
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
10.
GRCh37:
Chr13:80058840-115107733
See casesPathogenic
(Dec 8, 2014)
no assertion criteria provided
11.
GRCh37:
Chr13:19436287-115107733
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, CDK8, CDX2, RCBTB2, CLN5, COL4A1, COL4A2, CPB2, DACH1, DCT, GPR183, EDNRB, EFNB2, ELF1, ERCC5, ESD, F7, F10, FGF9, FGF14, GPC5, FOXO1, FLT1, FLT3, GAS6, GJA3, GJB2, GPR12, GPR18, MLNR, GTF2F2, GTF3A, HMGB1, HTR2A, ING1, PDX1, KPNA3, IPO5, LAMP1, LCP1, LIG4, LMO7, MAB21L1, SMAD9, MIPEP, NEK3, PABPC3, PCCA, PCDH8, PCDH9, UBL3, POU4F1, DNAJC3, RAP2A, RB1, RFC3, RFXAP, RNF6, RPL21, ATXN8OS, SGCG, SLC7A1, SLC10A2, SLC15A1, SOX1, TFDP1, TPP2, TPT1, TRPC4, TUBA3C, UCHL3, ZIC2, ZMYM2, IFT88, STK24, CUL4A, TNFSF11, IRS2, SCEL, SUCLA2, DLEU2, TSC22D1, PROZ, ARHGEF7, CDC16, CCNA1, CLDN10, MTMR6, DCLK1, ZMYM5, ITGBL1, KL, TM9SF2, ITM2B, MTRF1, UTP14C, NUP58, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFPL6, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, CNMD, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPART, LRCH1, ATP11A, MCF2L, MTUS2, DOCK9, TGDS, SLITRK5, FBXL3, SACS, INTS6, LATS2, CKAP2, NUFIP1, NBEA, OXGR1, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, POLR1D, CRYL1, PHF11, POMP, UFM1, ATP8A2, IL17D, NDFIP2, MPHOSPH8, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, PSPC1, NUDT15, GPALPP1, TNFRSF19, SUPT20H, ANKRD10, RAB20, NAXD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, RUBCNL, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, TPTE2, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, TEX29, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, FAM216B, LACC1, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, LRRC63, EEF1AKMT1, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, LINC00567, CHAMP1, SIAH3, KCNRG, SLC46A3, UBAC2, C1QTNF9, FREM2, NEK5, TMEM255B, KCTD4, RASL11A, C1QTNF9B, SHISA2, NHLRC3, SERP2, SERTM1, ATP11AUN, MIR15A, MIR16-1, MIR17, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, MIR17HG, ALG11, MZT1, PCOTH, MIR4500HG, CCDC168, URAD, ZAR1L, SERPINE3, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, ACOD1, LINC00543, LOC100288208, ANKRD10-IT1, LINC00402, CCDC169-SOHLH2, BIVM-ERCC5, LINC00558, LINC00565, SLC25A30-AS1
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
12.
GRCh37:
Chr13:19436287-115107733
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, CDK8, CDX2, RCBTB2, CLN5, COL4A1, COL4A2, CPB2, DACH1, DCT, GPR183, EDNRB, EFNB2, ELF1, ERCC5, ESD, F7, F10, FGF9, FGF14, GPC5, FOXO1, FLT1, FLT3, GAS6, GJA3, GJB2, GPR12, GPR18, MLNR, GTF2F2, GTF3A, HMGB1, HTR2A, ING1, PDX1, KPNA3, IPO5, LAMP1, LCP1, LIG4, LMO7, MAB21L1, SMAD9, MIPEP, NEK3, PABPC3, PCCA, PCDH8, PCDH9, UBL3, POU4F1, DNAJC3, RAP2A, RB1, RFC3, RFXAP, RNF6, RPL21, ATXN8OS, SGCG, SLC7A1, SLC10A2, SLC15A1, SOX1, TFDP1, TPP2, TPT1, TRPC4, TUBA3C, UCHL3, ZIC2, ZMYM2, IFT88, STK24, CUL4A, TNFSF11, IRS2, SCEL, SUCLA2, DLEU2, TSC22D1, PROZ, ARHGEF7, CDC16, CCNA1, CLDN10, MTMR6, DCLK1, ZMYM5, ITGBL1, KL, TM9SF2, ITM2B, MTRF1, UTP14C, NUP58, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFPL6, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, CNMD, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPART, LRCH1, ATP11A, MCF2L, MTUS2, DOCK9, TGDS, SLITRK5, FBXL3, SACS, INTS6, LATS2, CKAP2, NUFIP1, NBEA, OXGR1, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, POLR1D, CRYL1, PHF11, POMP, UFM1, ATP8A2, IL17D, NDFIP2, MPHOSPH8, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, PSPC1, NUDT15, GPALPP1, TNFRSF19, SUPT20H, ANKRD10, RAB20, NAXD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, RUBCNL, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, TPTE2, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, TEX29, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, FAM216B, LACC1, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, LRRC63, EEF1AKMT1, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, LINC00567, CHAMP1, SIAH3, KCNRG, SLC46A3, UBAC2, C1QTNF9, FREM2, NEK5, TMEM255B, KCTD4, RASL11A, C1QTNF9B, SHISA2, NHLRC3, SERP2, SERTM1, ATP11AUN, MIR15A, MIR16-1, MIR17, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, MIR17HG, ALG11, MZT1, PCOTH, MIR4500HG, CCDC168, URAD, ZAR1L, SERPINE3, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, ACOD1, LINC00543, LOC100288208, ANKRD10-IT1, LINC00402, CCDC169-SOHLH2, BIVM-ERCC5, LINC00558, LINC00565, SLC25A30-AS1
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
13.
GRCh37:
Chr13:80572498-108719528
See casesPathogenic
(Jul 7, 2014)
no assertion criteria provided
14.
GRCh37:
Chr13:71871468-115107733
See casesPathogenic
(Jun 16, 2014)
no assertion criteria provided
15.
GRCh37:
Chr13:19436286-115107733
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, CDK8, CDX2, RCBTB2, CLN5, COL4A1, COL4A2, CPB2, DACH1, DCT, GPR183, EDNRB, EFNB2, ELF1, ERCC5, ESD, F7, F10, FGF9, FGF14, GPC5, FOXO1, FLT1, FLT3, GAS6, GJA3, GJB2, GPR12, GPR18, MLNR, GTF2F2, GTF3A, HMGB1, HTR2A, ING1, PDX1, KPNA3, IPO5, LAMP1, LCP1, LIG4, LMO7, MAB21L1, SMAD9, MIPEP, NEK3, PABPC3, PCCA, PCDH8, PCDH9, UBL3, POU4F1, DNAJC3, RAP2A, RB1, RFC3, RFXAP, RNF6, RPL21, ATXN8OS, SGCG, SLC7A1, SLC10A2, SLC15A1, SOX1, TFDP1, TPP2, TPT1, TRPC4, TUBA3C, UCHL3, ZIC2, ZMYM2, IFT88, STK24, CUL4A, TNFSF11, IRS2, SCEL, SUCLA2, DLEU2, TSC22D1, PROZ, ARHGEF7, CDC16, CCNA1, CLDN10, MTMR6, DCLK1, ZMYM5, ITGBL1, KL, TM9SF2, ITM2B, MTRF1, UTP14C, NUP58, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFPL6, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, CNMD, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPART, LRCH1, ATP11A, MCF2L, MTUS2, DOCK9, TGDS, SLITRK5, FBXL3, SACS, INTS6, LATS2, CKAP2, NUFIP1, NBEA, OXGR1, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, POLR1D, CRYL1, PHF11, POMP, UFM1, ATP8A2, IL17D, NDFIP2, MPHOSPH8, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, PSPC1, NUDT15, GPALPP1, TNFRSF19, SUPT20H, ANKRD10, RAB20, NAXD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, RUBCNL, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, TPTE2, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, TEX29, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, FAM216B, LACC1, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, LRRC63, EEF1AKMT1, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, LINC00567, CHAMP1, SIAH3, KCNRG, SLC46A3, UBAC2, C1QTNF9, FREM2, NEK5, TMEM255B, KCTD4, RASL11A, C1QTNF9B, SHISA2, NHLRC3, SERP2, SERTM1, ATP11AUN, MIR15A, MIR16-1, MIR17, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, MIR17HG, ALG11, MZT1, PCOTH, MIR4500HG, CCDC168, URAD, ZAR1L, SERPINE3, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, ACOD1, LINC00543, LOC100288208, ANKRD10-IT1, LINC00402, CCDC169-SOHLH2, BIVM-ERCC5, LINC00558, LINC00565, SLC25A30-AS1
See casesPathogenicno assertion criteria provided
16.
GRCh37:
Chr13:94269729-115107733
See casesPathogenicno assertion criteria provided
17.
GRCh37:
Chr13:88073140-115107733
See casesPathogenicno assertion criteria provided
18.
GRCh37:
Chr13:61424168-115107733
See casesPathogenicno assertion criteria provided
19.
GRCh37:
Chr13:101357397-115107733
See casesPathogenicno assertion criteria provided
20.
GRCh37:
Chr13:103219511-103513884
ERCC5, TPP2, BIVM, KDELC1, TEX30, METTL21C, CCDC168, BIVM-ERCC5See casesUncertain significanceno assertion criteria provided
21.
GRCh37:
Chr13:53551300-109850651
See casesPathogenicno assertion criteria provided
22.
GRCh37:
Chr13:82221361-115092569
See casesPathogenicno assertion criteria provided
23.
GRCh37:
Chr13:19571503-115092510
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, CDK8, CDX2, RCBTB2, CLN5, COL4A1, COL4A2, CPB2, DACH1, DCT, GPR183, EDNRB, EFNB2, ELF1, ERCC5, ESD, F7, F10, FGF9, FGF14, GPC5, FOXO1, FLT1, FLT3, GAS6, GJA3, GJB2, GPR12, GPR18, MLNR, GTF2F2, GTF3A, HMGB1, HTR2A, ING1, PDX1, KPNA3, IPO5, LAMP1, LCP1, LIG4, LMO7, MAB21L1, SMAD9, MIPEP, NEK3, PABPC3, PCCA, PCDH8, PCDH9, UBL3, POU4F1, DNAJC3, RAP2A, RB1, RFC3, RFXAP, RNF6, RPL21, ATXN8OS, SGCG, SLC7A1, SLC10A2, SLC15A1, SOX1, TFDP1, TPP2, TPT1, TRPC4, TUBA3C, UCHL3, ZIC2, ZMYM2, IFT88, STK24, CUL4A, TNFSF11, IRS2, SCEL, SUCLA2, DLEU2, TSC22D1, PROZ, ARHGEF7, CDC16, CCNA1, CLDN10, MTMR6, DCLK1, ZMYM5, ITGBL1, KL, TM9SF2, ITM2B, MTRF1, UTP14C, NUP58, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFPL6, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, CNMD, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPART, LRCH1, ATP11A, MCF2L, MTUS2, DOCK9, TGDS, SLITRK5, FBXL3, SACS, INTS6, LATS2, CKAP2, NUFIP1, NBEA, OXGR1, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, POLR1D, CRYL1, PHF11, POMP, UFM1, ATP8A2, IL17D, NDFIP2, MPHOSPH8, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, PSPC1, NUDT15, GPALPP1, TNFRSF19, SUPT20H, ANKRD10, RAB20, NAXD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, RUBCNL, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, TPTE2, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, TEX29, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, FAM216B, LACC1, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, LRRC63, EEF1AKMT1, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, LINC00567, CHAMP1, SIAH3, KCNRG, SLC46A3, UBAC2, C1QTNF9, FREM2, NEK5, TMEM255B, KCTD4, RASL11A, C1QTNF9B, SHISA2, NHLRC3, SERP2, SERTM1, ATP11AUN, MIR15A, MIR16-1, MIR17, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, MIR17HG, ALG11, MZT1, PCOTH, MIR4500HG, CCDC168, URAD, ZAR1L, SERPINE3, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, ACOD1, LINC00543, LOC100288208, ANKRD10-IT1, LINC00402, CCDC169-SOHLH2, BIVM-ERCC5, LINC00558, LINC00565, SLC25A30-AS1
See casesPathogenicno assertion criteria provided
24.
GRCh37:
Chr13:89796110-115083342
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr13:19571503-115092569
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, CDK8, CDX2, RCBTB2, CLN5, COL4A1, COL4A2, CPB2, DACH1, DCT, GPR183, EDNRB, EFNB2, ELF1, ERCC5, ESD, F7, F10, FGF9, FGF14, GPC5, FOXO1, FLT1, FLT3, GAS6, GJA3, GJB2, GPR12, GPR18, MLNR, GTF2F2, GTF3A, HMGB1, HTR2A, ING1, PDX1, KPNA3, IPO5, LAMP1, LCP1, LIG4, LMO7, MAB21L1, SMAD9, MIPEP, NEK3, PABPC3, PCCA, PCDH8, PCDH9, UBL3, POU4F1, DNAJC3, RAP2A, RB1, RFC3, RFXAP, RNF6, RPL21, ATXN8OS, SGCG, SLC7A1, SLC10A2, SLC15A1, SOX1, TFDP1, TPP2, TPT1, TRPC4, TUBA3C, UCHL3, ZIC2, ZMYM2, IFT88, STK24, CUL4A, TNFSF11, IRS2, SCEL, SUCLA2, DLEU2, TSC22D1, PROZ, ARHGEF7, CDC16, CCNA1, CLDN10, MTMR6, DCLK1, ZMYM5, ITGBL1, KL, TM9SF2, ITM2B, MTRF1, UTP14C, NUP58, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFPL6, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, CNMD, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPART, LRCH1, ATP11A, MCF2L, MTUS2, DOCK9, TGDS, SLITRK5, FBXL3, SACS, INTS6, LATS2, CKAP2, NUFIP1, NBEA, OXGR1, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, POLR1D, CRYL1, PHF11, POMP, UFM1, ATP8A2, IL17D, NDFIP2, MPHOSPH8, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, PSPC1, NUDT15, GPALPP1, TNFRSF19, SUPT20H, ANKRD10, RAB20, NAXD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, RUBCNL, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, TPTE2, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, TEX29, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, FAM216B, LACC1, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, LRRC63, EEF1AKMT1, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, LINC00567, CHAMP1, SIAH3, KCNRG, SLC46A3, UBAC2, C1QTNF9, FREM2, NEK5, TMEM255B, KCTD4, RASL11A, C1QTNF9B, SHISA2, NHLRC3, SERP2, SERTM1, ATP11AUN, MIR15A, MIR16-1, MIR17, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, MIR17HG, ALG11, MZT1, PCOTH, MIR4500HG, CCDC168, URAD, ZAR1L, SERPINE3, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, ACOD1, LINC00543, LOC100288208, ANKRD10-IT1, LINC00402, CCDC169-SOHLH2, BIVM-ERCC5, LINC00558, LINC00565, SLC25A30-AS1
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr13:20411535-115085141
GRCh38:
Chr13:19837395-114327173
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, CDK8, CDX2, RCBTB2, CLN5, COL4A1, COL4A2, CPB2, DACH1, DCT, GPR183, EDNRB, EFNB2, ELF1, ERCC5, ESD, F7, F10, FGF9, FGF14, GPC5, FOXO1, FLT1, FLT3, GAS6, GJA3, GJB2, GPR12, GPR18, MLNR, GTF2F2, GTF3A, HMGB1, HTR2A, ING1, PDX1, KPNA3, IPO5, LAMP1, LCP1, LIG4, LMO7, MAB21L1, SMAD9, MIPEP, NEK3, PABPC3, PCCA, PCDH8, PCDH9, UBL3, POU4F1, DNAJC3, RAP2A, RB1, RFC3, RFXAP, GRK1, RNF6, RPL21, ATXN8OS, SGCG, SLC7A1, SLC10A2, SLC15A1, SOX1, TFDP1, TPP2, TPT1, TRPC4, UCHL3, ZIC2, ZMYM2, IFT88, STK24, CUL4A, TNFSF11, IRS2, SCEL, SUCLA2, DLEU2, TSC22D1, PROZ, ARHGEF7, CDC16, CCNA1, CLDN10, MTMR6, DCLK1, ZMYM5, ITGBL1, KL, TM9SF2, ITM2B, MTRF1, UTP14C, NUP58, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFPL6, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, CNMD, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPART, LRCH1, ATP11A, MCF2L, MTUS2, DOCK9, TGDS, SLITRK5, FBXL3, SACS, INTS6, LATS2, CKAP2, NUFIP1, SNORD102, NBEA, OXGR1, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, POLR1D, CRYL1, PHF11, POMP, UFM1, ATP8A2, IL17D, NDFIP2, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, NUDT15, GPALPP1, TNFRSF19, SUPT20H, ANKRD10, RAB20, NAXD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, RUBCNL, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, N4BP2L2-IT2, TEX29, LINC00284, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00355, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, UBE2L5, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, LRRC63, EEF1AKMT1, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, LINC00346, CHAMP1, SIAH3, KCNRG, TMEM272, 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, PCOTH, SNORA27, TSC22D1-AS1, MIR4500HG, LINC00452, CCDC168, URAD, ZAR1L, LINC00598, C13orf42, SERPINE3, LOC647264, GAS6-AS1, SNORA31, MIR621, MIR622, MIR623, LINC00460, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, ACOD1, LOC100129307, LINC00462, COL4A2-AS2, LINC00552, FKSG29, LINC00543, LINC00426, TRE-TTC2-1, TRN-GTT2-4, TRF-GAA1-5, TRE-TTC1-2, TPT1-AS1, LOC100288208, PAN3-AS1, DNAJC3-DT, UBAC2-AS1, MCF2L-AS1, MIR1297, MIR1267, MIR759, MIR2276, MIR320D1, MIR4306, MIR3168, MIR3170, MIR4305, MIR3169, MIR3665, MIR3613, ANKRD10-IT1, EDNRB-AS1, RBM26-AS1, SOX1-OT, LOC100506016, GAS6-DT, LINC00540, SACS-AS1, LINC00327, TEX26-AS1, FRY-AS1, LINC00445, SPART-AS1, VWA8-AS1, INTS6-AS1, LINC00458, SOX21-AS1, LINC00402, C13orf46, CPB2-AS1, CCDC169-SOHLH2, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4704, MIR4502, MIR4705, MIR548X2, MIR4499, MIR4703, LINC00539, MIR5007, MIR5693, MIR5006, MIR548AR, MIR548AS, DOCK9-DT, LINC00554, LINC00557, LINC00561, LINC00564, LINC00566, LINC00562, PLUT, LINC00558, LINC00560, LINC00563, LINC00565, LINC00572, RB1-DT, MED4-AS1, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, LINC00297, CLYBL-AS2, PCDH9-AS2, 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, LINC00459, LINC00424, LINC00559, LINC00571, CLDN10-AS1, DIAPH3-AS1, DIAPH3-AS2, COL4A2-AS1, ATP11A-AS1, NDFIP2-AS1, MYCBP2-AS1, RNF219-AS1, ARHGEF7-AS1, SPATA13-AS1, ARHGEF7-AS2, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, FAM155A-IT1, SMIM2-IT1, PCCA-AS1, NALCN-AS1, LINC00348, MYO16-AS1, LINC00359, LINC00621, LOC101060553, LINC00676, LINC01080, LINC02338, LINC00378, LINC02339, LMO7-AS1, LINC01069, LINC00382, LINC01049, LOC101927248, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LINC01070, LOC101928730, LINC01043, LOC101928764, LOC101928841, LINC00463, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, CFAP97D2, SUCLA2-AS1, LOC101929657, LINC00380, LINC00367, LINC00397, LINC00384, MIR8073, MIR8075, MIR8079, LINC01053, LINC00412, LOC102723345, LINC01065, LOC102723968, LINC01038, LINC01232, LINC02333, LINC01442, LINC00456, LINC01046, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01058, LINC01068, LINC01055, LINC01075, LINC01044, LINC00363, LINC00399, LMO7DN-IT1, LINC01309, LINC00431, LINC01072, LINC00375, LINC00396, LINC00428, LINC01039, LINC00376, SCEL-AS1, F10-AS1, LINC02340, LINC00385, LINC02344, LINC02343, LINC02341, LINC00390, LOC105370203, LINC00345, LINC01052, LOC105370295, LOC105370306, LINC01040, LINC02336, LOC105370333, LINC00370, LOC105370361, LOC105370362, LINC02337, LOC105376684, LINC01047, LINC00374, LINC00430, LINC01078, LINC00407, LINC01074, LINC00449, SNORA107, LOC106721785, LOC106783494, SETDB2-PHF11, LOC107457599, LOC107882127, LOC107882129, LINC00415, LINC00444, LOC107992391, LOC108175343, LOC108281153, LOC108318668, LOC109461478, LOC109580097, SNORA31B, SNORD31B, SNORD13G, LOC110008580, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120855, LOC110120881, LOC110120889, LOC110120891, LOC110120897, LOC110120909, LOC110120930, LOC110120933, LOC110120945, LOC110120946, LOC110120950, LOC110121336, LOC110121346, LOC110121347, LOC110121359, LOC110121360, LOC110121375, LOC110121384, LOC110121400, LOC110121473, LOC111365190, LOC111429622, LOC111562370, LOC112268114
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
27.
GRCh37:
Chr13:19436286-115107733
GRCh38:
Chr13:18862146-114342258
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, CDK8, CDX2, RCBTB2, CLN5, COL4A1, COL4A2, CPB2, DACH1, DCT, GPR183, EDNRB, EFNB2, ELF1, ERCC5, ESD, F7, F10, FGF9, FGF14, GPC5, FOXO1, FLT1, FLT3, GAS6, GJA3, GJB2, GPR12, GPR18, MLNR, GTF2F2, GTF3A, HMGB1, HTR2A, ING1, PDX1, KPNA3, IPO5, LAMP1, LCP1, LIG4, LMO7, MAB21L1, SMAD9, MIPEP, NEK3, PABPC3, PCCA, PCDH8, PCDH9, UBL3, POU4F1, DNAJC3, RAP2A, RB1, RFC3, RFXAP, GRK1, RNF6, RPL21, ATXN8OS, SGCG, SLC7A1, SLC10A2, SLC15A1, SOX1, TFDP1, TPP2, TPT1, TRPC4, TUBA3C, UCHL3, ZIC2, ZMYM2, IFT88, STK24, CUL4A, TNFSF11, IRS2, SCEL, SUCLA2, DLEU2, TSC22D1, PROZ, ARHGEF7, CDC16, CCNA1, CLDN10, MTMR6, DCLK1, ZMYM5, ITGBL1, KL, TM9SF2, ITM2B, MTRF1, UTP14C, NUP58, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFPL6, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, CNMD, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPART, LRCH1, ATP11A, MCF2L, MTUS2, DOCK9, TGDS, SLITRK5, FBXL3, SACS, INTS6, LATS2, CKAP2, NUFIP1, SNORD102, NBEA, OXGR1, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, POLR1D, CRYL1, PHF11, POMP, UFM1, ATP8A2, IL17D, NDFIP2, MPHOSPH8, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, PSPC1, NUDT15, GPALPP1, TNFRSF19, SUPT20H, ANKRD10, RAB20, NAXD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, RUBCNL, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, TPTE2, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, N4BP2L2-IT2, TEX29, LINC00284, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00355, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, UBE2L5, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, LRRC63, EEF1AKMT1, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, LINC00346, CHAMP1, SIAH3, KCNRG, TMEM272, SLC46A3, UBAC2, LINC00550, LINC00347, C1QTNF9, FREM2, NEK5, TMEM255B, LINC00442, KCTD4, RASL11A, C1QTNF9B, SHISA2, NHLRC3, SERP2, SERTM1, LINC00547, LINC00548, TUSC8, ATP11AUN, MIR15A, MIR16-1, MIR17, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, MIR17HG, LINC00544, LINC00545, ALG11, MZT1, PCOTH, SNORA27, TSC22D1-AS1, MIR4500HG, LINC00452, CCDC168, URAD, ZAR1L, LINC00598, C13orf42, SERPINE3, LOC647264, GAS6-AS1, SNORA31, MIR621, MIR622, MIR623, LINC00460, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, ACOD1, LOC100129307, LINC00462, COL4A2-AS2, LINC00552, FKSG29, LINC00543, LINC00426, TRE-TTC2-1, TRN-GTT2-4, TRF-GAA1-5, TRE-TTC1-2, TPT1-AS1, LINC00421, LOC100288208, PAN3-AS1, DNAJC3-DT, UBAC2-AS1, MCF2L-AS1, MIR1297, MIR1267, MIR759, MIR2276, MIR320D1, MIR4306, MIR3168, MIR3170, MIR4305, MIR3169, MIR3665, MIR3613, ANKRD10-IT1, EDNRB-AS1, RBM26-AS1, SOX1-OT, LOC100506016, GAS6-DT, LINC00540, SACS-AS1, LINC00327, TEX26-AS1, FRY-AS1, LINC00445, SPART-AS1, VWA8-AS1, INTS6-AS1, LINC00458, SOX21-AS1, LINC00402, C13orf46, CPB2-AS1, CCDC169-SOHLH2, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4704, MIR4502, MIR4705, MIR548X2, MIR4499, MIR4703, LINC00408, LINC00539, MIR5007, MIR5693, MIR5006, MIR548AR, MIR548AS, DOCK9-DT, LINC00554, LINC00557, LINC00561, LINC00564, LINC00566, LINC00562, PLUT, LINC00558, LINC00560, LINC00563, LINC00565, LINC00572, RB1-DT, MED4-AS1, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, LINC00297, CLYBL-AS2, PCDH9-AS2, GRTP1-AS1, STK24-AS1, USP12-AS1, USP12-AS2, FREM2-AS1, DLEU7-AS1, FGF14-AS1, HTR2A-AS1, PCDH9-AS3, PCDH9-AS4, DOCK9-AS1, MTUS2-AS1, LINC00331, LINC00332, LINC00333, ENOX1-AS2, LINC00350, LINC00351, LINC00353, LINC00358, LINC00364, LINC00365, LINC00366, LINC00379, LINC00381, LINC00392, LINC00393, LINC00395, LINC00398, LINC00400, LINC00411, LINC00423, LINC00433, LINC00434, LINC00440, LINC00443, LINC00446, LINC00448, LINC00454, LINC00457, LINC00459, LINC00424, LINC00559, LINC00571, CLDN10-AS1, DIAPH3-AS1, DIAPH3-AS2, COL4A2-AS1, ATP11A-AS1, NDFIP2-AS1, MYCBP2-AS1, RNF219-AS1, ARHGEF7-AS1, SPATA13-AS1, ARHGEF7-AS2, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, FAM155A-IT1, SMIM2-IT1, PCCA-AS1, NALCN-AS1, LINC00348, MYO16-AS1, LINC00359, LINC00621, LOC101060553, LINC00676, LINC01080, LINC02338, LINC00378, LINC02339, LMO7-AS1, LINC01069, LINC00382, LINC01049, LOC101927248, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LOC101928697, LINC01070, LOC101928730, LINC01043, LOC101928764, LOC101928841, LINC00463, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, CFAP97D2, SUCLA2-AS1, LOC101929657, LINC00380, LINC00367, LINC00397, LINC00384, MIR8073, MIR8075, MIR8079, LINC01053, LINC00412, LOC102723345, LINC01065, LOC102723968, LINC01038, LINC01232, LINC02333, LINC01442, LINC00456, LINC01046, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01058, LINC01068, LINC01055, LINC01075, LINC01044, LINC00363, LINC00399, LMO7DN-IT1, LINC01309, LINC00431, LINC01072, LINC00375, LINC00396, LINC00428, LINC01039, LINC01054, LINC00376, SCEL-AS1, F10-AS1, LINC02340, LINC00385, LINC02344, LINC02343, LINC02341, LINC00390, LOC105370203, LINC00345, LINC01052, LOC105370295, LOC105370306, LINC01040, LINC02336, LOC105370333, LINC00370, LOC105370361, LOC105370362, LINC02337, LOC105376684, LINC01047, LINC00374, LINC00430, LINC01078, LINC00407, LINC01074, LINC00449, SNORA107, LOC106721785, LOC106783494, SETDB2-PHF11, LOC107457599, LOC107882127, LOC107882129, LINC00415, LOC107984132, LINC00444, LOC107992391, LOC108175343, LOC108281153, LOC108318668, LOC109461478, LOC109580097, SNORA31B, SNORD31B, SNORD13G, LOC110008580, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120855, LOC110120881, LOC110120889, LOC110120891, LOC110120897, LOC110120909, LOC110120930, LOC110120933, LOC110120945, LOC110120946, LOC110120950, LOC110121336, LOC110121346, LOC110121347, LOC110121359, LOC110121360, LOC110121375, LOC110121384, LOC110121400, LOC110121473, LOC111365190, LOC111429622, LOC111562370, LOC112268114
See casesPathogenic
(Jun 18, 2013)
no assertion criteria provided
28.
GRCh37:
Chr13:20246074-115085141
GRCh38:
Chr13:19671934-114340331
PARP4, ALOX5AP, ATP12A, ATP4B, ATP7B, BRCA2, KLF5, CDK8, CDX2, RCBTB2, CLN5, COL4A1, COL4A2, CPB2, DACH1, DCT, GPR183, EDNRB, EFNB2, ELF1, ERCC5, ESD, F7, F10, FGF9, FGF14, GPC5, FOXO1, FLT1, FLT3, GAS6, GJA3, GJB2, GPR12, GPR18, MLNR, GTF2F2, GTF3A, HMGB1, HTR2A, ING1, PDX1, KPNA3, IPO5, LAMP1, LCP1, LIG4, LMO7, MAB21L1, SMAD9, MIPEP, NEK3, PABPC3, PCCA, PCDH8, PCDH9, UBL3, POU4F1, DNAJC3, RAP2A, RB1, RFC3, RFXAP, GRK1, RNF6, RPL21, ATXN8OS, SGCG, SLC7A1, SLC10A2, SLC15A1, SOX1, TFDP1, TPP2, TPT1, TRPC4, UCHL3, ZIC2, ZMYM2, IFT88, STK24, CUL4A, TNFSF11, IRS2, SCEL, SUCLA2, DLEU2, TSC22D1, PROZ, ARHGEF7, CDC16, CCNA1, CLDN10, MTMR6, DCLK1, ZMYM5, ITGBL1, KL, TM9SF2, ITM2B, MTRF1, UTP14C, NUP58, TBC1D4, GPC6, FRY, MBNL2, FARP1, LPAR6, SLC25A15, LHFPL6, TRIM13, USPL1, MRPS31, SPRY2, ABCC4, SAP18, DLEU1, TUBGCP3, N4BP2L2, PIBF1, OLFM4, POSTN, TNFSF13B, GJB6, HSPH1, WASF3, SUGT1, CNMD, SOX21, WBP4, AKAP11, KLF12, EXOSC8, RASA3, FNDC3A, DZIP1, DIS3, MYO16, PDS5B, MYCBP2, VWA8, ZC3H13, SPART, LRCH1, ATP11A, MCF2L, MTUS2, DOCK9, TGDS, SLITRK5, FBXL3, SACS, INTS6, LATS2, CKAP2, NUFIP1, SNORD102, NBEA, OXGR1, PCDH17, RGCC, MED4, DNAJC15, ALG5, VPS36, POLR1D, CRYL1, PHF11, POMP, UFM1, ATP8A2, IL17D, NDFIP2, MPHOSPH8, BIVM, SOHLH2, TMCO3, ENOX1, ARGLU1, DCUN1D2, RCBTB1, PSPC1, NUDT15, GPALPP1, TNFRSF19, SUPT20H, ANKRD10, RAB20, NAXD, UGGT2, PCID2, CENPJ, THSD1, RNF17, CYSLTR2, SPRYD7, COG6, KLHL1, RBM26, XPO4, PCDH20, UPF3A, MRPL57, SMIM2, KDELC1, CARS2, RNF219, NAA16, RNASEH2B, DHRS12, GRTP1, BORA, RUBCNL, PROSER1, TDRD3, CDADC1, CAB39L, DIAPH3, CCDC70, COG3, SETDB2, KATNAL1, KBTBD7, SLITRK6, EBPL, TMTC4, MEDAG, ABHD13, ZIC5, GGACT, KBTBD6, STARD13, N4BP2L1, TEX30, EPSTI1, ADPRHL1, SLITRK1, KCTD12, ARL11, WDFY2, N4BP2L2-IT2, TEX29, LINC00284, CSNK1A1L, RXFP2, TEX26, SLAIN1, PRR20A, SPACA7, RNF113B, LINC00355, LINC00410, FAM216B, LACC1, LINC00330, LINC00343, HNRNPA1L2, B3GLCT, DGKH, CCDC122, GPR180, STOML3, COMMD6, UBE2L5, CLYBL, METTL21C, AMER2, USP12, MTIF3, GSX1, ERICH6B, SPERT, DLEU7, FAM124A, LRRC63, EEF1AKMT1, SKA3, MICU2, SPATA13, LNX2, SLC25A30, ZDHHC20, PAN3, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, LINC00346, CHAMP1, SIAH3, KCNRG, TMEM272, 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, PCOTH, SNORA27, TSC22D1-AS1, MIR4500HG, LINC00452, CCDC168, URAD, ZAR1L, LINC00598, C13orf42, SERPINE3, LOC647264, GAS6-AS1, SNORA31, MIR621, MIR622, MIR623, LINC00460, FAM155A, CCDC169, PRR20B, PRR20C, PRR20D, PRR20E, LMO7DN, ACOD1, LOC100129307, LINC00462, COL4A2-AS2, LINC00552, FKSG29, LINC00543, LINC00426, TRE-TTC2-1, TRN-GTT2-4, TRF-GAA1-5, TRE-TTC1-2, TPT1-AS1, LOC100288208, PAN3-AS1, DNAJC3-DT, UBAC2-AS1, MCF2L-AS1, MIR1297, MIR1267, MIR759, MIR2276, MIR320D1, MIR4306, MIR3168, MIR3170, MIR4305, MIR3169, MIR3665, MIR3613, ANKRD10-IT1, EDNRB-AS1, RBM26-AS1, SOX1-OT, LOC100506016, GAS6-DT, LINC00540, SACS-AS1, LINC00327, TEX26-AS1, FRY-AS1, LINC00445, SPART-AS1, VWA8-AS1, INTS6-AS1, LINC00458, SOX21-AS1, LINC00402, C13orf46, CPB2-AS1, CCDC169-SOHLH2, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4704, MIR4502, MIR4705, MIR548X2, MIR4499, MIR4703, LINC00539, MIR5007, MIR5693, MIR5006, MIR548AR, MIR548AS, DOCK9-DT, LINC00554, LINC00557, LINC00561, LINC00564, LINC00566, LINC00562, PLUT, LINC00558, LINC00560, LINC00563, LINC00565, LINC00572, RB1-DT, MED4-AS1, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, LINC00297, CLYBL-AS2, PCDH9-AS2, 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, LINC00459, LINC00424, LINC00559, LINC00571, CLDN10-AS1, DIAPH3-AS1, DIAPH3-AS2, COL4A2-AS1, ATP11A-AS1, NDFIP2-AS1, MYCBP2-AS1, RNF219-AS1, ARHGEF7-AS1, SPATA13-AS1, ARHGEF7-AS2, STARD13-AS, RNASEH2B-AS1, SLC25A30-AS1, FAM155A-IT1, SMIM2-IT1, PCCA-AS1, NALCN-AS1, LINC00348, MYO16-AS1, LINC00359, LINC00621, LOC101060553, LINC00676, LINC01080, LINC02338, LINC00378, LINC02339, LMO7-AS1, LINC01069, LINC00382, LINC01049, LOC101927248, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LINC01070, LOC101928730, LINC01043, LOC101928764, LOC101928841, LINC00463, LINC00437, LOC101929140, SMIM2-AS1, LOC101929259, LINC01198, CFAP97D2, SUCLA2-AS1, LOC101929657, LINC00380, LINC00367, LINC00397, LINC00384, MIR8073, MIR8075, MIR8079, LINC01053, LINC00412, LOC102723345, LINC01065, LOC102723968, LINC01038, LINC01232, LINC02333, LINC01442, LINC00456, LINC01046, LINC01050, LINC00383, DLEU1-AS1, LINC01048, LINC00377, LINC01058, LINC01068, LINC01055, LINC01075, LINC01044, LINC00363, LINC00399, LMO7DN-IT1, LINC01309, LINC00431, LINC01072, LINC00375, LINC00396, LINC00428, LINC01039, LINC01054, LINC00376, SCEL-AS1, F10-AS1, LINC02340, LINC00385, LINC02344, LINC02343, LINC02341, LINC00390, LOC105370203, LINC00345, LINC01052, LOC105370295, LOC105370306, LINC01040, LINC02336, LOC105370333, LINC00370, LOC105370361, LOC105370362, LINC02337, LOC105376684, LINC01047, LINC00374, LINC00430, LINC01078, LINC00407, LINC01074, LINC00449, SNORA107, LOC106721785, LOC106783494, SETDB2-PHF11, LOC107457599, LOC107882127, LOC107882129, LINC00415, LINC00444, LOC107992391, LOC108175343, LOC108281153, LOC108318668, LOC109461478, LOC109580097, SNORA31B, SNORD31B, SNORD13G, LOC110008580, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120855, LOC110120881, LOC110120889, LOC110120891, LOC110120897, LOC110120909, LOC110120930, LOC110120933, LOC110120945, LOC110120946, LOC110120950, LOC110121336, LOC110121346, LOC110121347, LOC110121359, LOC110121360, LOC110121375, LOC110121384, LOC110121400, LOC110121473, LOC111365190, LOC111429622, LOC111562370, LOC112268114
See casesPathogenic
(Nov 26, 2012)
no assertion criteria provided
29.
GRCh37:
Chr13:83862266-115107733
GRCh38:
Chr13:83288131-114342258
ATP4B, COL4A1, COL4A2, DCT, GPR183, EFNB2, ERCC5, F7, F10, FGF14, GPC5, GAS6, GPR18, ING1, IPO5, LAMP1, LIG4, PCCA, DNAJC3, RAP2A, GRK1, SLC10A2, SLC15A1, SOX1, TFDP1, TPP2, ZIC2, STK24, CUL4A, IRS2, PROZ, ARHGEF7, CDC16, CLDN10, ITGBL1, TM9SF2, GPC6, MBNL2, FARP1, ABCC4, TUBGCP3, TNFSF13B, SOX21, RASA3, DZIP1, MYO16, ATP11A, MCF2L, DOCK9, TGDS, SLITRK5, OXGR1, BIVM, TMCO3, ARGLU1, DCUN1D2, ANKRD10, RAB20, NAXD, UGGT2, PCID2, UPF3A, KDELC1, CARS2, GRTP1, SLITRK6, TMTC4, ABHD13, ZIC5, GGACT, TEX30, ADPRHL1, SLITRK1, TEX29, SPACA7, RNF113B, LINC00410, LINC00343, GPR180, CLYBL, METTL21C, NALCN, HS6ST3, DAOA, DAOA-AS1, FGF14-IT1, FGF14-AS2, LINC00551, LINC00567, LINC00346, CHAMP1, UBAC2, TMEM255B, ATP11AUN, MIR17, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, MIR17HG, MIR4500HG, LINC00452, CCDC168, GAS6-AS1, MIR622, MIR623, LINC00460, FAM155A, COL4A2-AS2, LINC00552, FKSG29, TRF-GAA1-5, DNAJC3-DT, UBAC2-AS1, MCF2L-AS1, MIR1267, MIR4306, MIR3170, ANKRD10-IT1, SOX1-OT, LOC100506016, GAS6-DT, SOX21-AS1, C13orf46, BIVM-ERCC5, MIR2681, MIR4501, MIR4500, MIR4502, MIR4705, MIR548AR, MIR548AS, DOCK9-DT, LINC00554, LINC00557, LINC00560, LINC00565, GPC5-AS1, GPC5-AS2, GPC6-AS1, GPC6-AS2, CLYBL-AS2, GRTP1-AS1, STK24-AS1, FGF14-AS1, DOCK9-AS1, LINC00333, LINC00351, LINC00353, LINC00379, LINC00411, LINC00433, LINC00440, LINC00443, LINC00454, LINC00559, CLDN10-AS1, COL4A2-AS1, ATP11A-AS1, ARHGEF7-AS1, ARHGEF7-AS2, FAM155A-IT1, PCCA-AS1, NALCN-AS1, MYO16-AS1, LINC00359, LOC101060553, LINC00676, LINC01049, LOC101927248, LOC101927284, LOC101927437, CLYBL-AS1, LINC00368, LINC00354, LINC01070, LOC101928730, LINC01043, LOC101928841, CFAP97D2, LINC00380, LINC00397, MIR8073, MIR8075, LINC01232, LINC00456, LINC01044, LINC00363, LINC00399, LINC01309, LINC00431, LINC00375, LINC00396, LINC01039, LINC01054, F10-AS1, LOC105370306, LINC01040, LINC02336, LOC105370333, LINC00370, LOC105370361, LOC105370362, LINC02337, LOC105376684, LINC01047, LINC00430, LINC00449, SNORA107, LOC107992391, SNORD31B, SNORD13G, LOC110008580, LOC110120855, LOC110120881, LOC110120930, LOC110120933, LOC110121336, LOC110121473, LOC111429622, LOC112268114
See casesPathogenic
(Jun 11, 2013)
no assertion criteria provided
30.
GRCh37:
Chr13:102415138-115105760
GRCh38:
Chr13:101762788-114340285