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Results: 1 to 20 of 23

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
PLA2G6, BAIAP2L2Malignant melanomanot providednot classified by submitter2238113562
2.
PLA2G6, BAIAP2L2Malignant melanomanot providednot classified by submitter2238112289
3.
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter2237721797 - 40860953
4.
ACR, ACO2, ADSL, ARSA, ATF4, BIK, TSPO, MPPED1, CHKB, CPT1B, CSNK1E, CYP2D6, CYB5R3, TYMP, EP300, FBLN1, XRCC6, MCHR1, H1F0, IL2RB, KCNJ4, LGALS1, LGALS2, MFNG, MGAT3, NAGA, NDUFA6, NHP2L1, PDGFB, PMM1, POLR2F, PPARA, MAPK11, RAC2, RANGAP1, RPL3, MAPK12, SBF1, SOX10, SREBF2, SSTR3, ST13, TCF20, TEF, UPK3A, WNT7B, PLA2G6, GALR3, CACNA1I, SYNGR1, GRAP2, PICK1, GTPBP1, APOBEC3B, CELSR1, PPP6R2, ZBED4, JOSD1, RBX1, SCO2, DNAL4, PKDREJ, TAB1, SLC25A17, DDX17, NUP50, TOB2, KDELR3, TRIOBP, CDC42EP1, DMC1, PACSIN2, TNRC6B, GRAMD4, TTLL12, MLC1, ZC3H7B, , GCAT, CBX6, NPTXR, CBX7, SLC16A8, MAPK8IP2, SH3BP1, PLXNB2, MAFF, BRD1, ARHGAP8, TBC1D22A, CBY1, SUN2, TTLL1, SAMM50, ATXN10, FAM19A5, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, SMC1B, CYTH4, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CARD10, PARVB, NCAPH2, EIF3L, GTSE1, A4GALT, MOV10L1, MIEF1, FAM118A, TTC38, PRR34, MIOX, PRR5, TRMU, SEPT3, PANX2, TOMM22, PDXP, MKL1, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, CENPM, ALG12, NOL12, CRELD2, C22orf46, KCTD17, CCDC134, ADM2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, SELO, L3MBTL2, HDAC10, LDOC1L, POLDIP3, C22orf23, PHF5A, , SHANK3, MICALL1, TUBGCP6, LMF2, RPS19BP1, SMDT1, SERHL, PHF21B, KLHDC7B, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, RNU86, SNORD83A, SNORD83B, ANKRD54, APOBEC3D, ENTHD1, DNAJB7, CHADL, MEI1, FAM109B, NFAM1, PNPLA5, CDPF1, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, APOBEC3A, APOBEC3F, SERHL2, ATP5L2, IL17REL, MIRLET7A3, MIRLET7B, MIR33A, DENND6B, PIM3, SHISA8, ODF3B, PRR5-ARHGAP8, SYCE3, FAM227A, MIR659
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter2237061769 - 50738932
5.
ACR, ACO2, ADSL, ARSA, ATF4, BIK, TSPO, MPPED1, CHKB, CPT1B, CSF2RB, CSNK1E, CYP2D6, CYB5R3, TYMP, EP300, FBLN1, XRCC6, MCHR1, H1F0, HMOX1, IL2RB, KCNJ4, LGALS1, LGALS2, MB, MCM5, MFNG, MGAT3, MPST, MYH9, NAGA, NCF4, NDUFA6, NHP2L1, PDGFB, PMM1, POLR2F, PPARA, MAPK11, PVALB, RAC2, RANGAP1, RPL3, MAPK12, SBF1, SOX10, SREBF2, SSTR3, ST13, TCF20, TEF, TST, UPK3A, WNT7B, PLA2G6, GALR3, APOL1, EIF3D, CACNA1I, SYNGR1, LARGE, GRAP2, PICK1, GTPBP1, APOBEC3B, CELSR1, PPP6R2, ZBED4, JOSD1, RBX1, SCO2, HMGXB4, TOM1, DNAL4, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, PACSIN2, TNRC6B, GRAMD4, TTLL12, MLC1, ZC3H7B, , GCAT, CBX6, NPTXR, CBX7, SLC16A8, MAPK8IP2, RBFOX2, RASD2, SH3BP1, PLXNB2, MAFF, BRD1, ARHGAP8, APOL2, TBC1D22A, CBY1, SUN2, TTLL1, SAMM50, ATXN10, FAM19A5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, SMC1B, CYTH4, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CARD10, PARVB, NCAPH2, EIF3L, GTSE1, A4GALT, MOV10L1, MIEF1, FAM118A, TTC38, PRR34, MIOX, PRR5, TRMU, SEPT3, PANX2, TOMM22, PDXP, MKL1, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, CENPM, ALG12, NOL12, CRELD2, C22orf46, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, APOL6, APOL5, APOL4, APOL3, SELO, L3MBTL2, HDAC10, LDOC1L, POLDIP3, C22orf23, PHF5A, , SHANK3, MICALL1, TUBGCP6, LMF2, ISX, RPS19BP1, SMDT1, SERHL, PHF21B, KLHDC7B, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, RNU86, SNORD83A, SNORD83B, ANKRD54, APOBEC3D, ENTHD1, DNAJB7, CHADL, MEI1, FAM109B, NFAM1, PNPLA5, CDPF1, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, APOBEC3A, APOBEC3F, SERHL2, ATP5L2, TEX33, IL17REL, MIRLET7A3, MIRLET7B, MIR33A, DENND6B, PIM3, SHISA8, ODF3B, PRR5-ARHGAP8, SYCE3, FAM227A, MIR659
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter2233768441 - 50739977
6.
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter2237721777 - 38886664
7.
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter2236859030 - 39236985
8.
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter2235333993 - 38900177
9.
PLA2G6Parkinson disease 14GMAF:0.00050(A)Pathogenic/Likely pathogenic
(Feb 24, 2014)
classified by single submitter2238132917
10.
PLA2G6Infantile neuroaxonal dystrophyPathogenic/Likely pathogenic
(Oct 19, 2011)
classified by single submitter2238169318
11.
PLA2G6Infantile neuroaxonal dystrophyPathogenic/Likely pathogenic
(Oct 19, 2011)
classified by single submitter
12.
PLA2G6Parkinson disease 14Pathogenic/Likely pathogenic
(Oct 19, 2011)
classified by single submitter
13.
PLA2G6Parkinson disease 14Pathogenic/Likely pathogenic
(Oct 19, 2011)
classified by single submitter2238126444
14.
PLA2G6Parkinson disease 14Pathogenic/Likely pathogenic
(Feb 24, 2014)
classified by single submitter2238115657
15.
PLA2G6Parkinson disease 14Pathogenic/Likely pathogenic
(Oct 19, 2011)
classified by single submitter2238112541
16.
PLA2G6Parkinson disease 14Pathogenic/Likely pathogenic
(Oct 19, 2011)
classified by single submitter2238112558
17.
PLA2G6Neurodegeneration with brain iron accumulation 2bPathogenic/Likely pathogenic
(Oct 19, 2011)
classified by single submitter2238145625
18.
PLA2G6Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2bPathogenic/Likely pathogenic
(Oct 19, 2011)
classified by multiple submitters
19.
PLA2G6Karak syndromePathogenic/Likely pathogenic
(Oct 19, 2011)
classified by single submitter2238115667
20.
PLA2G6Infantile neuroaxonal dystrophyPathogenic/Likely pathogenic
(Oct 19, 2011)
classified by single submitter

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