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Results: 6

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
CFHR4Malignant melanomanot providednot classified by submitter1196914620
2.
CFHR4Malignant melanomanot providednot classified by submitter1196912860
3.
CFHR4Malignant melanomanot providednot classified by submitter1196910427
4.
CFHR4Malignant melanomanot providednot classified by submitter1196914659
5.
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter1179032905 - 199724897
6.
ADORA1, ATF3, ATP2B4, AVPR1B, C4BPA, C4BPB, CACNA1S, CAPN2, CD34, CENPF, CHI3L1, CHIT1, CR1, CR1L, CR2, CSRP1, CTSE, CD55, EIF2D, ELF3, ELK4, EPRS, ESRRG, F13B, FMOD, NR5A2, GPR25, CFH, CFHR1, CFHR2, HLX, HSD11B1, IL10, IRF6, KCNH1, KCNK2, KISS1, LAD1, LAMB3, MARK1, CD46, MDM4, MYBPH, MYOG, PPP1R12B, NEK2, NVL, CDK18, PFKFB2, PIGR, PIK3C2B, PKP1, PLXNA2, PPP2R5A, PRELP, PROX1, PTPN7, PTPN14, PTPRC, RABIF, RBBP5, REN, RGS1, RGS2, RGS13, RNPEP, SNRPE, TROVE2, CNTN2, TGFB2, TLR5, TNNI1, TNNT2, TP53BP2, TRAF5, USH2A, SLC30A1, BTG2, DYRK3, PPFIA4, DEGS1, B3GALT2, RAB29, TAF1A, FAIM3, MAPKAPK2, GPR37L1, SOX13, IKBKE, ZC3H11A, TMCC2, LPGAT1, KIF14, BPNT1, TIMM17A, LRRN2, KDM5B, CFHR4, CFHR3, IL24, DUSP10, PLEKHA6, KIF21B, NFASC, FBXO28, CAMSAP2, SRGAP2, CRB1, ZNF281, PHLDA3, DSTYK, RAB3GAP2, LMOD1, INTS7, NSL1, OPTC, RPS6KC1, DIEXF, FLVCR1, UBE2T, NENF, IL19, G0S2, IL20, RRP15, GLRX2, ADIPOR1, KCTD3, UCHL5, DTL, CYB5R1, LAX1, MARC2, SUSD4, GPATCH2, KLHDC8A, ETNK2, TMEM206, YOD1, BATF3, SLC30A10, IARS2, IPO9, HHAT, RCOR3, C1orf106, SERTAD4, SMYD2, LHX9, CAMK1G, KLHL12, LGR6, RGS18, NUCKS1, MARC1, AIDA, C1orf116, CDC73, C1orf115, HHIPL2, VASH2, TRAF3IP3, CFHR5, NUAK2, DDX59, RASSF5, FCAMR, PPP1R15B, DISP1, SLC45A3, NAV1, ANGEL2, IGFN1, TMEM183A, LEMD1, SLC26A9, LYPLAL1, ATP6V1G3, ARL8A, SYT2, GOLT1A, SPATA17, TATDN3, NEK7, C1orf74, BROX, MFSD4, PM20D1, SHISA4, SPATA45, FAM71A, DENND1B, CCDC185, TMEM9, SLC41A1, SYT14, ASPM, BRINP3, RD3, KCNT2, ZBTB41, MIA3, C1orf53, TMEM81, CAPN8, FAM177B, MIR181B1, MIR194-1, MIR205, MIR181A1, MIR215, MIR29C, RGS21, C1orf186, MIR205HG, FLVCR1-AS1, ASCL5, FAM72A, ZBED6, PCAT6, LINC00538
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter1187143981 - 224299417

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