ClinVar Miner

Variants from Human Genetics Laboratory, State University of Rio de Janeiro

Location: Brazil  Primary collection method: research
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
8 5 4 0 0 17

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABCD1, ACTRT1, ADGRG4, AFF2, AIFM1, APLN, ARHGAP36, ARHGAP4, ARHGEF6, ATP11C, ATP2B3, ATP6AP1, AVPR2, BCAP31, BCORL1, BGN, BRCC3, BRS3, CCDC160, CCNQ, CD40LG, CD99L2, CDR1, CETN2, CLIC2, CMC4, CNGA2, CSAG1, CSAG3, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT55, CTAG1A, CTAG1B, CTAG2, CXorf51A, CXorf51B, CXorf66, DCAF12L1, DCAF12L2, DKC1, DNASE1L1, DUSP9, ELF4, EMD, ENOX2, EOLA1, EOLA2, F8, F8A1, F8A2, F8A3, F9, FAM3A, FAM50A, FATE1, FGF13, FHL1, FLNA, FMR1, FMR1NB, FRMD7, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GDI1, GPC3, GPC4, GPR101, GPR119, GPR50, GRIA3, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, HMGB3, HPRT1, HS6ST2, HSFX1, HSFX2, HTATSF1, IDH3G, IDS, IGSF1, IKBKG, INTS6L, IRAK1, L1CAM, LAGE3, LDOC1, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAMLD1, MAP7D3, MBNL3, MCF2, MECP2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR224, MIR424, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MMGT1, MOSPD1, MPP1, MTCP1, MTM1, MTMR1, NAA10, NSDHL, OCRL, OPN1LW, OPN1MW, OPN1MW2, OR13H1, PABIR2, PABIR3, PASD1, PDZD4, PHF6, PLAC1, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PRR32, PRRG3, RAB33A, RAB39B, RAP2C, RBMX, RBMX2, RENBP, RPL10, RTL8A, RTL8B, RTL8C, SAGE1, SASH3, SH2D1A, SLC10A3, SLC25A14, SLC6A8, SLC9A6, SLITRK2, SLITRK4, SMARCA1, SMIM10, SMIM9, SOX3, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SRPK3, SSR4, STAG2, STK26, TAFAZZIN, TENM1, TEX28, TFDP3, THOC2, TKTL1, TMEM185A, TMEM187, TMLHE, TREX2, UBE2NL, UBL4A, USP26, UTP14A, VBP1, VGLL1, VMA21, XIAP, XPNPEP2, ZDHHC9, ZFP92, ZIC3, ZNF185, ZNF275, ZNF280C, ZNF449, ZNF75D 0 1 0 1
ABCD1, ACTRT1, ADGRG4, AFF2, AIFM1, APLN, ARHGAP36, ARHGAP4, ARHGEF6, ATP11C, ATP2B3, ATP6AP1, AVPR2, BCAP31, BCORL1, BGN, BRCC3, BRS3, CCDC160, CCNQ, CD40LG, CD99L2, CDR1, CETN2, CLIC2, CMC4, CNGA2, CSAG1, CSAG3, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT55, CTAG1A, CTAG1B, CTAG2, CXorf51A, CXorf51B, CXorf66, DCAF12L1, DCAF12L2, DKC1, DNASE1L1, DUSP9, ELF4, EMD, ENOX2, EOLA1, EOLA2, F8, F8A1, F8A2, F8A3, F9, FAM3A, FAM50A, FATE1, FGF13, FHL1, FLNA, FMR1, FMR1NB, FRMD7, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GDI1, GPC3, GPC4, GPR101, GPR119, GPR50, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, HMGB3, HPRT1, HS6ST2, HSFX1, HSFX2, HTATSF1, IDH3G, IDS, IGSF1, IKBKG, INTS6L, IRAK1, L1CAM, LAGE3, LDOC1, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAMLD1, MAP7D3, MBNL3, MCF2, MECP2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR224, MIR424, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MMGT1, MOSPD1, MPP1, MTCP1, MTM1, MTMR1, NAA10, NSDHL, OCRL, OPN1LW, OPN1MW, OPN1MW2, OR13H1, PABIR2, PABIR3, PASD1, PDZD4, PHF6, PLAC1, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PRR32, PRRG3, RAB33A, RAB39B, RAP2C, RBMX, RBMX2, RENBP, RPL10, RTL8A, RTL8B, RTL8C, SAGE1, SASH3, SH2D1A, SLC10A3, SLC25A14, SLC6A8, SLC9A6, SLITRK2, SLITRK4, SMARCA1, SMIM10, SMIM9, SOX3, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SRPK3, SSR4, STAG2, STK26, TAFAZZIN, TENM1, TEX28, TFDP3, THOC2, TKTL1, TMEM185A, TMEM187, TMLHE, TREX2, UBE2NL, UBL4A, USP26, UTP14A, VBP1, VGLL1, VMA21, XIAP, XPNPEP2, ZDHHC9, ZFP92, ZIC3, ZNF185, ZNF275, ZNF280C, ZNF449, ZNF75D 0 1 0 1
ATP6AP1, BRCC3, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, IKBKG, IRAK1, LAGE3, MECP2, MPP1, MTCP1, OPN1LW, OPN1MW, OPN1MW2, PLXNA3, RAB39B, RPL10, SLC10A3, SMIM9, TAFAZZIN, TEX28, TKTL1, TMLHE, UBL4A, VBP1, WASIR1 1 0 0 1
DVL1 0 0 1 1
EMD, FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 1 0 0 1
FAM156A, FAM156B, GPR173, HSD17B10, HUWE1, IQSEC2, KDM5C, MIR98, MIRLET7F2, RIBC1, SMC1A, TSPYL2 1 0 0 1
GAMT 1 0 0 1
HDAC8 0 1 0 1
LAMP2 0 0 1 1
NAALADL2, TBL1XR1 0 1 0 1
NLGN4X 0 0 1 1
PHF6 1 0 0 1
PRKN 1 0 0 1
SYNJ1 0 0 1 1
TAF1 0 1 0 1
USP9X 1 0 0 1
YY1 1 0 0 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance total
Intellectual disability 6 4 2 12
Autosomal dominant Robinow syndrome 2 0 0 1 1
Autosomal recessive juvenile Parkinson disease 2 1 0 0 1
Early-onset Parkinson disease 20 0 0 1 1
Parkinson disease, late-onset 1 0 0 1
Premature ovarian insufficiency 0 1 0 1

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