ClinVar Miner

Variants studied for Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV

Coded as:
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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 not provided total
1 0 1073 1644 752 1 3470

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
CACNA1H 1 1066 1644 752 1 3463
ABCA3, ADCY9, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GLIS2, GNG13, GNPTG, HAGH, HAGHL, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MGRN1, MIR1225, MLST8, MMP25, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPW, NTHL1, NTN3, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEPTIN12, SLX4, SMIM22, SNHG9, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBALD1, UBE2I, UNKL, UQCC4, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 0 1 0 0 0 1
ABCA3, AMDHD2, ANTKMT, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CRAMP1, DECR2, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FBXL16, FLYWCH1, FLYWCH2, GFER, GNG13, GNPTG, HAGH, HAGHL, HCFC1R1, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MIR1225, MLST8, MMP25, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NOXO1, NPW, NTHL1, NTN3, NUBP2, OR1F1, OR2C1, PAQR4, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SLX4, SNHG9, SOX8, SPSB3, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 0 1 0 0 0 1
ABCA3, ANTKMT, BAIAP3, BRICD5, C1QTNF8, CACNA1H, CASKIN1, CCDC154, CCDC78, CCNF, CHTF18, CIAO3, CLCN7, CRAMP1, DNASE1L2, E4F1, ECI1, EME2, FAHD1, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LMF1, MAPK8IP3, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MLST8, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NTN3, NUBP2, PGP, PIGQ, PKD1, PRR25, PTX4, RAB26, RAB40C, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZNF598 0 1 0 0 0 1
ANTKMT, ARHGDIG, AXIN1, BAIAP3, C1QTNF8, CACNA1H, CAPN15, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, CRAMP1, DECR2, EME2, FAM234A, FBXL16, GNG13, GNPTG, HAGHL, IFT140, IGFALS, JMJD8, JPT2, LMF1, LUC7L, MAPK8IP3, MCRIP2, METRN, METTL26, MRPL28, MRPS34, MSLN, NHLRC4, NME3, NME4, NUBP2, PDIA2, PGAP6, PIGQ, PRR25, PRR35, PTX4, RAB11FIP3, RAB40C, RGS11, RHBDL1, RHOT2, RPUSD1, SOX8, SPSB3, SSTR5, STUB1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1 0 1 0 0 0 1
ANTKMT, AXIN1, C1QTNF8, CACNA1H, CAPN15, CCDC78, CHTF18, CIAO3, DECR2, FBXL16, GNG13, HAGHL, JMJD8, LMF1, MCRIP2, METRN, METTL26, MRPL28, MSLN, NHLRC4, NME4, PGAP6, PIGQ, PRR25, PRR35, RAB11FIP3, RAB40C, RHBDL1, RHOT2, RPUSD1, SOX8, SSTR5, STUB1, WDR24, WDR90, WFIKKN1 0 1 0 0 0 1
ANTKMT, BAIAP3, C1QTNF8, CACNA1H, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, CRAMP1, EME2, FAHD1, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LMF1, MAPK8IP3, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NUBP2, PIGQ, PKD1, PRR25, PTX4, RAB40C, RHBDL1, RHOT2, RNF151, RPL3L, RPS2, RPUSD1, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZNF598 0 1 0 0 0 1
ANTKMT, C1QTNF8, CACNA1H, CCDC78, CHTF18, CIAO3, GNG13, HAGHL, LMF1, METRN, MSLN, PRR25, RPUSD1, SOX8, SSTR5 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 1073 1644 752 0 3470
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1

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