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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr12:282465-133773393
GRCh38:
Chr12:121271-133196807
CPNE8, DAO, DAZAP2, DDX47, DIP2B, DNAH10, DUSP16, EMG1, EMP1, ENDOU, ETFBKMT, FAM66C, FIGNL2-DT, GALNT6, GALNT8, GLI1, GOLGA3, H1-7, HIGD1C, HIP1R, HOXC9, IKBIP, IKZF4, IL22, IRAG2, IRAK3, KCNA5, KCNA6, KIF5A, KITLG, KNTC1, KRT77, LIN7A, LINC00173, LINC00944, LINC02347, LINC02386, LINC02387, LINC02403, LINC02404, LINC02424, LINC02451, LINC02820, LINC02823, LOC100128276, LOC100130238, LOC100130268, LOC100240734, LOC100240735, LOC100287944, LOC100288798, LOC100505978, LOC100506551, LOC100506606, LMBR1L, LMNTD1, LOC100506691, LOC100506869, LINC02824, LINC02825, LINC02826, LMO3, LNCOG, LOC100128253, LINC02827, LINC02874, LINC02882, LINC02909, LLPH, LINC02468, LINC02555, LINC02598, LINC02617, LLPH-DT, LINC02453, LINC02470, LINC02471, LINC02454, LINC02455, LINC02458, LINC02459, LINC02446, LINC02448, LINC02449, LINC02450, LINC02460, LINC02461, LINC02464, LINC02425, LINC02426, LINC02439, LINC02440, LINC02441, LINC02442, LINC02445, LINC02418, LINC02419, LINC02420, LINC02421, LINC02422, LINC02423, LINC02443, LINC02444, LINC02405, LINC02410, LINC02411, LINC02412, LINC02406, LINC02408, LINC02409, LINC02413, LINC02414, LINC02397, LINC02398, LINC02399, LINC02415, LINC02417, LINC02388, LINC02389, LINC02400, LINC02401, LINC02402, LINC02392, LINC02393, LINC02375, LINC02376, LINC02378, LINC02381, LINC02394, LINC02395, LINC02396, LINC02350, LINC02356, LINC02359, LINC02368, LINC02369, LINC02384, LINC02385, LINC02361, LINC02366, LINC02367, LINC01490, LINC01498, LINC01559, LINC01619, LINC02156, LINC02370, LINC02372, LINC02373, LINC00987, LINC01089, LINC01234, LINC01252, LINC01486, LINC01489, LINC02231, LINC02258, LINC00941, LINC00612, LINC00615, LINC01257, LINC01405, LINC01465, LINC01479, LINC00477, LINC00485, LINC00934, LINC00937, LINC00942, LINC00943, LINC00507, LINC00508, LINC00592, KRT86, LALBA, LARP4, LDHB, LINC00938, LINC00939, LINC00940, KRT78, KRT79, KSR2, LACRT, LAG3, KRT84, KRT85, KRT8, KRT80, KRT73, KRT73-AS1, KRT74, KRT75, KRT76, KRT81, KRT82, KRT83, KRT4, KRT5, KRT71, KRT72, KRT6A, KRT6B, KRT6C, KMT5A, KLRF1, KLRF2, KLRK1-AS1, KMT2D, KRT7, KRT7-AS, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KCNMB4, KDM2B, KDM2B-DT, KDM5A, KERA, KLRG1, KLRK1, KCNC2, KCTD10, KICS2, KIF21A, ITGA7, ITGB7, ITPR2, KANSL2, KCNA1, KCNH3, KCNJ8, IRAK4, ITFG2-AS1, ITGA5, ISCU, IL26, IL31, INHBE, INTS13, IQCD, ITFG2, IL23A, ING4, INHBC, IPO8, HSP90B1, HSPB8, IGF1, IGFBP6, IQSEC3, IQSEC3-AS1, HPD, HRK, HSD17B6, HVCN1, IAPP, IFFO1, IFNG, HOXC10, HOXC11, HOXC12, HOXC4, HOXC5, HOXC6, HOXC8, IFNG-AS1, IFT81, HOXC-AS1, HOXC-AS2, HOXC-AS3, H4-16, HAL, HCAR3, HCFC2, HDAC7, HEBP1, HECTD4, HOXC13, HOXC13-AS, H2AJ, H3-5, HCAR1, HCAR2, GPR84, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GXYLT1, GYS2, HELB, GOLT1B, GPD1, GPN3, GPR162, GLIPR1L2, GLS2, GNB3, GNPTAB, GNS, GPR182, GPR19, GLIPR1, GLIPR1L1, GLT1D1, GARIN6, GAS2L3, GATC, GAU1, GCN1, GDF11, GDF3, GIHCG, GLT8D2, GLTP, GALNT9, GIT2, GABARAPL1, GABARAPL1-AS1, GALNT4, FOXJ2, FOXM1, FOXN4, FRA12A, FRS2, GAPDH, FKBP11, FKBP4, FLJ12825, FLJ13224, FMNL3, FBXO21, FBXW8, FGD6, FGF23, FGF6, FGFR1OP2, FICD, FIGNL2, FZD10, FZD10-AS1, FAM90A1, FAR2, FGD4, FAM186A, FAM186B, FAM216A, FAM222A-AS1, FAM234B, FAM242C, FBRSL1, FBXL14, ETFRF1, ETNK1, FAM222A, EPYC, ERBB3, ERC1, ERP29, ESPL1, ESYT1, ETNK1-DT, ETV6, FAIM2, ENO2, EP400, ERGIC2, ERP27, E2F7, EEA1, EEF1AKMT3, EID3, EIF2B1, EIF2S3B, EIF4B, ELK3, EPS8, DUSP6, DYNLL1, DYRK2, DTX3, DNM1L, DPPA3, DPY19L2, DRAM1, DYRK4, DNAI7, DNAJC14, DNAJC22, DENND5B, DENND5B-AS1, DENR, DERA, DGKA, DHH, DHX37, DIABLO, DTX1, DDX51, DDX54, DDX55, DDIT3, DDN, DDN-AS1, DDX11, DDX11-AS1, DEPDC4, DBX2, DCD, DDX23, CREBL2, CRY1, CS, CSAD, CSRNP2, CUX2, CYP27B1, DCN, DCP1B, DCTN2, CPSF6, CRACR2A, CRADD, COQ10A, COQ5, COX6A1, CPM, CSRP2, CTDSP2, CORO1C, COX14, GRIP1, GSG1, GTF2H3, GTSF1, GUCY2C, HMGA2, HMGA2-AS1, HNF1A, HNF1A-AS1, HNRNPA1, HOTAIR, KRAS, KRR1, KRT1, KRT18, KRT2, KRT3, LEMD3, LETMD1, LGR5, LHX5, LHX5-AS1, LIMA1, LOC100507065, LOC100507250, LOC100507424, LOC100652999, LOC100996671, LOC101593348, LOC101927583, LOC101928002, LOC101928030, LOC101928416, LOC101928441, LOC101928731, LOC101928937, LOC101929058, LOC101929162, LOC102723544, LOC102724020, LOC102724050, LOC102724421, LOC105369187, LOC105369595, LOC105369632, LOC105369728, LOC105369747, LOC105369781, LOC105369879, LOC105369911, LOC105369945, LOC105369980, LOC105370024, LOC105370068, LOC106007490, LOC106007491, LOC106096416, LOC106783497, LOC106799839, LOC107105350, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108228199, LOC108251798, LOC108254668, LOC108281141, LOC108281176, LOC108281184, LOC108720144, LOC108720145, LOC108942766, LOC109280163, LOC109280164, LOC109280165, LOC109286556, LOC109461484, LOC110120854, LOC110120878, LOC110120899, LOC110120906, LOC110120907, LOC110120908, LOC110120918, LOC110120934, LOC110120948, LOC110120954, LOC110120955, LOC110120956, LOC110120957, LOC110121322, LOC110121323, LOC110121349, LOC110121363, LOC110121374, LOC110121381, LOC110121389, LOC110121401, LOC110121402, PTPRQ, PTPRR, PUS1, PUS7L, PWP1, PXMP2, PXN, PXN-AS1, PYM1, PYROXD1, PZP, R3HDM2, RAB21, RAB35, RAB3IP, RAB5B, RACGAP1, RAD51AP1, RAD52, RAD9B, RAN, RAP1B, RAPGEF3, RARG, RASAL1, RASSF3, RASSF3-DT, RASSF8, RASSF8-AS1, RASSF9, RBM19, RBMS2, RBP5, RDH16, RDH5, RECQL, REP15, RERG, RERG-AS1, RERGL, RESF1, RFC5, RFLNA, RFX4, RHEBL1, RHNO1, RHOF, RIC8B, RILPL1, RILPL2, RIMBP2, RIMKLB, RITA1, RMST, RND1, RNF10, RNF34, RNF41, RNFT2, RNU4-1, RNU4-2, RNU7-1, RPAP3, RPAP3-DT, RPH3A, RPL41, RPL6, RPLP0, RPS26, RSRC2, RXYLT1, RXYLT1-AS1, SARNP, SART3, SBNO1, SBNO1-AS1, SCAF11, SCARB1, SCARNA10, SCARNA11, SCARNA12, SCAT2, SELPLG, SCN8A, SCNN1A, SCYL2, SDR9C7, SDS, SDSL, SENP1, SETD1B, SFSWAP, SH2B3, SHMT2, SINHCAF, SIRT4, SLC11A2, SLC15A4, SLC15A5, SLC16A7, SLC17A8, SLC25A3, SLC2A13, SLC2A14, SLC2A3, SLC35E3, SLC38A1, SLC38A2, SLC38A2-AS1, SLC38A4, SLC39A5, SLC41A2, SLC48A1, SLC4A8, SLC5A8, SLC6A12, SLC6A12-AS1, SLC6A13, SLC6A15, SLC8B1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B3-SLCO1B7, SLCO1B7, SLCO1C1, SMAGP, SMARCC2, SMARCD1, SMCO2, SMCO3, SMIM10L1, SMIM41, SMUG1, SNORA105C, SNORA113, SNORA120, SNORA2A, SNORA2B, SNORA2C, SNORA49, SNORA53, SNORA70G, SNORA9B, SNORD133, SNORD59A, SNORD59B, SNRNP35, SNRPF, SNRPF-DT, SOAT2, SOCS2, SOCS2-AS1, SOX5, SOX5-AS1, SP1, SP7, SPATS2, SPIC, SPPL3, SPRING1, SPRYD3, SPRYD4, SPSB2, SPX, SRGAP1, SRRM4, SRSF9, SSH1, SSPN, ST8SIA1, STAB2, STAC3, STAT2, STAT6, STK38L, STRAP, STX2, STYK1, SUDS3, SUOX, SVOP, SYCP3, SYT1, SYT10, TAC3, TAFA2, TAMALIN, TAMALIN-AS1, TAOK3, TAPBPL, TARBP2, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TBC1D15, TBC1D30, TBK1, TBX3, TBX3-AS1, TBX5, TBX5-AS1, TCHP, TCP11L2, TCTN1, TCTN2, TDG, TEAD4, TESC, TESC-AS1, TESPA1, TEX49, TEX52, TFCP2, THAP2, THCAT155, THRIL, TIGAR, TIMELESS, TM7SF3, TMBIM4, TMBIM6, TMCC3, TMDD1, TMED2, TMED2-DT, TMEM106C, TMEM116, TMEM117, TMEM119, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TMEM19, TMEM233, TMEM263, TMEM52B, TMPO, TMPO-AS1, TMPRSS12, TMTC1, TMTC2, TMTC3, TNFRSF1A, TNS2, TPCN1, TPH2, TPI1, TRA-TGC3-2, TRA-TGC4-1, TRAFD1, TRD-GTC1-1, TRD-GTC2-10, TRD-GTC2-8, TRD-GTC2-9, TRF-GAA1-4, TRHDE, TRHDE-AS1, TRIAP1, TROAP, TROAP-AS1, TRPV4, TRS-CGA4-1, TRW-CCA4-1, TSFM, TSPAN11, TSPAN19, TSPAN31, TSPAN8, TSPAN9, TUBA1A, TUBA1B, TUBA1C, TULP3, TWF1, TXNRD1, UBC, UBE2N, UBE3B, UHRF1BP1L, ULK1, UNC119B, UNG, USP15, USP30, USP30-AS1, USP44, USP5, UTP20, VAMP1, VDR, VEZT, VPS29, VPS33A, VPS37B, VSIG10, VWF, WASHC3, WASHC4, WBP11, WIF1, WNK1, WNT1, WNT10B, WNT5B, WSB2, WSCD2, XLOC_009911, XPOT, YAF2, YARS2, YBX3, YEATS4, ZBTB39, ZC3H10, ZCCHC8, ZCRB1, ZDHHC17, ZFC3H1, ZNF10, ZNF140, ZNF26, ZNF268, ZNF384, ZNF385A, ZNF605, ZNF641, ZNF664, ZNF664-RFLNA, ZNF705A, ZNF740, ZNF84, ZNF84-DT, ZNF891, A2M, A2M-AS1, A2ML1, AAAS, AACS, ABCB9, ABCC9, ABCD2, ACACB, ACAD10, ACADS, ACRBP, ACSM4, ACSS3, ACTR6, ACVR1B, ACVRL1, ADAMTS20, ADCY6, ADCY6-DT, ADGRD1, ADGRD1-AS1, ADIPOR2, AEBP2, AGAP2, AGAP2-AS1, AICDA, AKAP3, ALDH1L2, ALDH2, ALG10, ALG10B, ALKBH2, ALX1, AMDHD1, AMHR2, AMIGO2, AMN1, ANAPC5, ANAPC7, ANKLE2, ANKRD13A, ANKRD33, ANKRD52, ANKS1B, ANO2, ANO4, ANO6, ANP32D, APAF1, APOBEC1, APOF, APOLD1, APPL2, AQP2, AQP5, AQP5-AS1, AQP6, ARF3, ARHGAP9, ARHGDIB, ARHGEF25, ARID2, ARL1, ARL6IP4, ARNTL2, ARNTL2-AS1, ARPC3, ART4, ASB8, ASCL1, ASCL4, ASIC1, ATF1, ATF7, ATF7-NPFF, ATF7IP, ATG101, ATN1, ATP23, ATP2A2, ATP2B1, ATP2B1-AS1, ATP5F1B, ATP5MC2, ATP6V0A2, ATXN2, ATXN2-AS, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT1, B4GALNT3, BAZ2A, BBS10, BCAT1, BCDIN3D, BCDIN3D-AS1, BCL2L14, BCL7A, BEST3, BHLHE41, BICD1, BICDL1, BIN2, BLOC1S1, BLOC1S1-RDH5, BORCS5, BRAP, BRI3BP, BTBD11, BTG1, BTG1-DT, C12orf29, C12orf4, C12orf40, C12orf42, C12orf43, C12orf50, C12orf54, C12orf56, C12orf57, C12orf60, C12orf71, C12orf73, C12orf74, C12orf75, C12orf75-AS1, C12orf76, C1QL4, C1R, C1RL, C1RL-AS1, C1S, C2CD5, C3AR1, CABP1, CABP1-DT, CACNA1C, CACNA1C-AS1, CACNA1C-AS2, CACNA1C-AS4, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CACNB3, CALCOCO1, CAMKK2, CAND1, CAPRIN2, CAPS2, CAPZA3, CASC18, CBX5, CCDC184, CCDC38, CCDC59, CCDC60, CCDC62, CCDC63, CCDC65, CCDC77, CCDC91, CCDC92, CCER1, CCND2, CCND2-AS1, CCNT1, CCT2, CD163, CD163L1, CD27, CD27-AS1, CD4, CD63, CD63-AS1, CD69, CD9, CDCA3, CDK17, CDK2, CDK2AP1, CDK4, CDKN1B, CELA1, CEP290, CEP83, CEP83-DT, CERS5, CFAP251, CFAP54, CFAP73, CHD4, CHFR, CHFR-DT, CHPT1, CHST11, CISTR, CIT, CKAP4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLIP1, CLIP1-AS1, CLLU1, CLLU1-AS1, CLSTN3, CMAS, CMKLR1, CNOT2, CNPY2, CNTN1, COL2A1, COPS7A, COPZ1, LOC110121403, LOC110121408, LOC110121425, LOC110121435, LOC110121456, LOC110121480, LOC110121489, LOC110599568, LOC111258525, LOC111258526, LOC111365152, LOC111365179, LOC111365214, LOC111413045, LOC111429608, LOC111429617, LOC111465008, LOC111501774, LOC111501779, LOC111556143, LOC111556155, LOC111776216, LOC112136100, LOC112136101, LOC112136102, LOC112136103, LOC112136104, LOC112136105, LOC112136106, LOC112136107, LOC112136108, LOC112136111, LOC112136112, LOC112163525, LOC112163526, LOC112163527, LOC112163528, LOC112163529, LOC112163530, LOC112163531, LOC112163532, LOC112163533, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163543, LOC112163544, LOC112163545, LOC112163546, LOC112163547, LOC112163548, LOC112163549, LOC112163550, LOC112163551, LOC112163552, LOC112163594, LOC112163595, LOC112163596, LOC112163597, LOC112163598, LOC112163600, LOC112163601, LOC112163602, LOC112163604, LOC112163605, LOC112163606, LOC112163607, LOC112163608, LOC112163609, LOC112163612, LOC112163613, LOC112163615, LOC112163617, LOC112163618, LOC112163619, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163628, LOC112163629, LOC112163630, LOC112163631, LOC112163632, LOC112163633, LOC112163634, LOC112163635, LOC112163636, LOC113939930, LOC113939931, LOC113939932, LOC113939933, LOC113939934, LOC113939935, LOC113939936, LOC113939937, LOC114803470, LOC114803471, LOC114827850, LOC114827856, LOC114827860, LOC114827865, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, LOC116268435, LOC116268436, LOC116268437, LOC116268438, LOC116268439, LOC116268440, LOC116268441, LOC116268442, LOC116268443, LOC116268444, LOC116268445, LOC116268446, LOC116268447, LOC116268448, LOC116268449, LOC116268450, LOC116268451, LOC116268452, LOC116268453, LOC117038775, LOC117038776, LOC117038778, LOC117038779, LOC117038780, LOC117038781, LOC117038782, LOC120766155, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121466693, LOC121466694, LOC121466695, LOC121466696, LOC121466697, LOC121466698, LOC121466699, LOC121466700, LOC121466701, LOC121466702, LOC121466703, LOC121466704, LOC121466705, LOC121466706, LOC121466707, LOC121466708, LOC121466709, LOC121466710, LOC121466711, LOC121466712, LOC121466713, LOC121466714, LOC121466715, LOC121466716, LOC121466717, LOC121466718, LOC121466719, LOC121466720, LOC121466721, LOC121466722, LOC121466723, LOC121466724, LOC121466725, LOC121466726, LOC121466727, LOC121832825, LOC121832826, LOC121832827, LOC121832828, LOC121832829, LOC121832830, LOC121832831, LOC121832832, LOC121832833, LOC121832834, LOC121832835, LOC121832836, LOC121832837, LOC121832838, LOC121832839, LOC121832840, LOC121832841, LOC121832842, LOC121832843, LOC121838556, LOC121838557, LOC121838558, LOC121838559, LOC121838560, LOC121838561, LOC121838562, LOC121838563, LOC121838564, LOC121838565, LOC121838566, LOC121838567, LOC121838568, LOC121838569, LOC121838570, LOC121838571, LOC122455340, LOC283335, LOC283387, LOC414300, LOC440084, LOC574538, LOC642846, LOC643339, LOC645177, LOC645485, LOC728715, LOC729291, LOH12CR2, LPAR5, LPCAT3, LRCOL1, LRIG3, LRIG3-DT, LRP1, LRP1-AS, LRP6, LRRC10, LRRC23, LRRC43, LRRIQ1, LRRK2, LRTM2, LTA4H, LTBR, LUM, LYZ, M6PR, MAGOHB, MANSC1, MANSC4, MAP1LC3B2, MAP3K12, MAPKAPK5, MAPKAPK5-AS1, MARCHF9, MARS1, MBD6, MCRS1, MDM1, MDM2, MED13L, MED21, METAP2, METTL1, METTL25, METTL7A, METTL7B, MFAP5, MFSD5, MGAT4C, MGP, MGST1, MIP, MIR10527, MIR1178, MIR1228, MIR1244-3, MIR1244-4, MIR1251, MIR1252, MIR1279, MIR1291, MIR1293, MIR1302-1, MIR135A2, MIR141, MIR148B, MIR1827, MIR196A2, MIR200C, MIR200CHG, MIR26A2, MIR3059, MIR3198-2, MIR331, MIR3612, MIR3649, MIR3652, MIR3657, MIR3685, MIR3908, MIR3913-1, MIR3913-2, MIR3922, MIR3974, MIR4302, MIR4303, MIR4304, MIR4419B, MIR4472-2, MIR4494, MIR4495, MIR4496, MIR4497, MIR4498, MIR4698, MIR4699, MIR4700, MIR4701, MIR492, MIR5188, MIR548C, MIR548Z, MIR5700, MIR6074, MIR6125, MIR613, MIR614, MIR615, MIR616, MIR617, MIR618, MIR619, MIR620, MIR6502, MIR6505, MIR6757, MIR6758, MIR6759, MIR6760, MIR6761, MIR6762, MIR6763, MIR6861, MIR6880, MIR7106, MIR7107, MIR7844, MIR7851, MIR8072, MIR920, MIR9898, MIR9902-1, MIR9902-2, MIRLET7I, MLEC, MLF2, MLXIP, MMAB, MMP17, MMP19, MON2, MORN3, MPHOSPH9, MRPL42, MRPL51, MRPS35, MSI1, MSRB3, MTERF2, MTRFR, MUC19, MUC8, MUCL1, MVK, MYBPC1, MYF5, MYF6, MYG1, MYL2, MYL6, MYL6B, MYO1A, MYO1H, MYRFL, NAA25, NAB2, NABP2, NACA, NANOG, NANOGNB, NAP1L1, NAV3, NCAPD2, NCKAP1L, NCKAP5L, NCOR2, NDUFA12, NDUFA4L2, NDUFA9, NECAP1, NEDD1, NELL2, NEMP1, NEUROD4, NFE2, NFYB, NINJ2, NINJ2-AS1, NOC4L, NOP2, NOPCHAP1, NOS1, NPFF, NR1H4, NR2C1, NR4A1, NR4A1AS, NRAV, NRIP2, NT5DC3, NTF3, NTN4, NTS, NUAK1, NUDT4, NUP107, NUP37, NXPH4, OAS1, OAS2, OAS3, OASL, OGFOD2, OLR1, OR10A7, OR10AD1, OR10P1, OR2AP1, OR5BS1P, OR6C1, OR6C2, OR6C3, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C74, OR6C75, OR6C76, OR8S1, OR9K2, ORAI1, ORI6, ORMDL2, OS9, OSBPL8, OTOGL, OVCH1, OVCH1-AS1, P2RX2, P2RX4, P2RX7, P3H3, PA2G4, PAH, PAN2, PARP11, PARP11-AS1, PARPBP, PAWR, PCBP2, PCBP2-OT1, PCED1B, PCED1B-AS1, PDE1B, PDE3A, PDE6H, PDZRN4, PEBP1, PEX5, PFDN5, PFKM, PGAM5, PHB2, PHC1, PHETA1, PHLDA1, PIANP, PIK3C2G, PIP4K2C, PITPNM2, PITPNM2-AS1, PIWIL1, PKP2, PLA2G1B, PLBD1, PLBD1-AS1, PLBD2, PLCZ1, PLEKHA5, PLEKHG6, PLEKHG7, PLXNC1, PMCH, PMEL, POC1B, POC1B-AS1, POC1B-GALNT4, POLE, POLR3B, POP5, POU6F1, PPFIA2, PPFIA2-AS1, PPFIBP1, PPHLN1, PPM1H, PPP1CC, PPP1R12A, PPP1R12A-AS1, PPP1R12A-AS2, PPP1R1A, PPTC7, PRANCR, PRB1, PRB2, PRB3, PRB4, PRDM4, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRICKLE1, PRIM1, PRKAB1, PRKAG1, PRMT8, PRPF40B, PRPH, PRR13, PRR4, PSMD9, PTGES3, PTHLH, PTMS, PTPN11, PTPN6, PTPRB, PTPRO
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150740
2.
GRCh37:
Chr12:57407139-63436278
GRCh38:
Chr12:57013355-63042498
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059019
3.
GRCh37:
Chr12:57434942-60667715
GRCh38:
Chr12:57041158-60273934
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059020
4.
GRCh37:
Chr12:58141530-58141531
GRCh38:
Chr12:57747747-57747748
CDK4, TSPAN31Cutaneous Malignant Melanoma, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000309963
5.
GRCh37:
Chr12:58141545-58141546
GRCh38:
Chr12:57747762-57747763
CDK4, TSPAN31Cutaneous Malignant Melanoma, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000309964
6.
GRCh37:
Chr12:58141557
GRCh38:
Chr12:57747774
CDK4, TSPAN31Cutaneous malignant melanoma 3Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000882172
7.
GRCh37:
Chr12:58141574
GRCh38:
Chr12:57747791
CDK4, TSPAN31Cutaneous malignant melanoma 3Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000882173
8.
GRCh37:
Chr12:58141602
GRCh38:
Chr12:57747819
CDK4, TSPAN31Cutaneous malignant melanoma 3Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000309965
9.
GRCh37:
Chr12:58141618
GRCh38:
Chr12:57747835
TSPAN31, CDK4Cutaneous malignant melanoma 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309966
10.
GRCh37:
Chr12:58141619
GRCh38:
Chr12:57747836
CDK4, TSPAN31Cutaneous malignant melanoma 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309967
11.
GRCh37:
Chr12:58141787
GRCh38:
Chr12:57748004
CDK4, TSPAN31Cutaneous malignant melanoma 3Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309968
12.
GRCh37:
Chr12:58141817
GRCh38:
Chr12:57748034
CDK4, TSPAN31Cutaneous malignant melanoma 3Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000309969
13.
GRCh37:
Chr12:58141829
GRCh38:
Chr12:57748046
CDK4, TSPAN31Cutaneous malignant melanoma 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309970
14.
GRCh37:
Chr12:58141871
GRCh38:
Chr12:57748088
CDK4, TSPAN31Cutaneous malignant melanoma 3Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309971
15.
GRCh37:
Chr12:58141884
GRCh38:
Chr12:57748101
CDK4, TSPAN31Cutaneous malignant melanoma 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000882420
16.
GRCh37:
Chr12:58141938
GRCh38:
Chr12:57748155
CDK4, TSPAN31Cutaneous malignant melanoma 3Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309972
17.
GRCh37:
Chr12:58141975
GRCh38:
Chr12:57748192
CDK4, TSPAN31Cutaneous malignant melanoma 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000884128
18.
GRCh37:
Chr12:58141989
GRCh38:
Chr12:57748206
CDK4, TSPAN31Cutaneous malignant melanoma 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309973
19.
GRCh37:
Chr12:58142004-58142005
GRCh38:
Chr12:57748221-57748222
TSPAN31, CDK4Cutaneous Malignant Melanoma, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000309974
20.
GRCh37:
Chr12:58142005
GRCh38:
Chr12:57748222
CDK4, TSPAN31Cutaneous Malignant Melanoma, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000309975
21.
GRCh37:
Chr12:58142037
GRCh38:
Chr12:57748254
CDK4, TSPAN31Cutaneous malignant melanoma 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000884129
22.
GRCh37:
Chr12:58142062
GRCh38:
Chr12:57748279
CDK4, TSPAN31Cutaneous malignant melanoma 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309976
23.
GRCh37:
Chr12:58142098
GRCh38:
Chr12:57748315
CDK4, TSPAN31Cutaneous malignant melanoma 3Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309977
24.
GRCh37:
Chr12:58142296
GRCh38:
Chr12:57748513
CDK4, TSPAN31not specifiedLikely benign
(Mar 9, 2016)
criteria provided, single submitterVCV000384740
25.
GRCh37:
Chr12:58142298-58145510
GRCh38:
Chr12:57748515-57751727
TSPAN31, CDK4, MIR6759Hereditary melanomaUncertain significance
(Oct 31, 2019)
criteria provided, single submitterVCV000583824
26.
GRCh37:
Chr12:58142303
GRCh38:
Chr12:57748520
CDK4, TSPAN31Hereditary melanomaUncertain significance
(Sep 8, 2014)
criteria provided, single submitterVCV000188065
27.
GRCh37:
Chr12:58142309
GRCh38:
Chr12:57748526
CDK4, TSPAN31Hereditary cancer-predisposing syndromeUncertain significance
(Dec 9, 2019)
criteria provided, single submitterVCV000823029
28.
GRCh37:
Chr12:58142313
GRCh38:
Chr12:57748530
TSPAN31, CDK4E303KHereditary melanomaUncertain significance
(Mar 22, 2020)
criteria provided, single submitterVCV001042239
29.
GRCh37:
Chr12:58142314
GRCh38:
Chr12:57748531
CDK4, TSPAN31Hereditary melanomaLikely benign
(Jan 13, 2020)
criteria provided, single submitterVCV001091234
30.
GRCh37:
Chr12:58142314
GRCh38:
Chr12:57748531
CDK4, TSPAN31Hereditary cancer-predisposing syndrome, Hereditary melanomaLikely benign
(Nov 12, 2020)
criteria provided, multiple submitters, no conflictsVCV000463480
31.
GRCh37:
Chr12:58142315
GRCh38:
Chr12:57748532
TSPAN31, CDK4P302Lnot provided, Hereditary cancer-predisposing syndrome, Hereditary melanoma
Uncertain significance
(Sep 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000574349
32.
GRCh37:
Chr12:58142318
GRCh38:
Chr12:57748535
CDK4, TSPAN31N301SHereditary melanomaUncertain significance
(Oct 20, 2019)
criteria provided, single submitterVCV000968628
33.
GRCh37:
Chr12:58142319
GRCh38:
Chr12:57748536
CDK4, TSPAN31N301HHereditary melanoma, Hereditary cancer-predisposing syndromeUncertain significance
(Feb 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000233433
34.
GRCh37:
Chr12:58142322
GRCh38:
Chr12:57748539
CDK4, TSPAN31G300SHereditary melanoma, not specified, Hereditary cancer-predisposing syndrome,
not provided, Cutaneous malignant melanoma 3
Uncertain significance
(Dec 22, 2020)
criteria provided, multiple submitters, no conflictsVCV000246400
35.
GRCh37:
Chr12:58142323
GRCh38:
Chr12:57748540
CDK4, TSPAN31E299DHereditary cancer-predisposing syndromeUncertain significance
(Jun 1, 2018)
criteria provided, single submitterVCV000822862
36.
GRCh37:
Chr12:58142324
GRCh38:
Chr12:57748541
TSPAN31, CDK4E299GHereditary cancer-predisposing syndromeUncertain significance
(Nov 18, 2016)
criteria provided, single submitterVCV000485491
37.
GRCh37:
Chr12:58142325
GRCh38:
Chr12:57748542
CDK4, TSPAN31E299KHereditary melanomaUncertain significance
(Nov 14, 2019)
criteria provided, single submitterVCV000961396
38.
GRCh37:
Chr12:58142328
GRCh38:
Chr12:57748545
CDK4, TSPAN31D298Nnot provided, Hereditary melanomaUncertain significance
(Jun 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000959033
39.
GRCh37:
Chr12:58142330
GRCh38:
Chr12:57748547
TSPAN31, CDK4K297fsHereditary melanomaUncertain significance
(Sep 15, 2020)
criteria provided, single submitterVCV001059743
40.
GRCh37:
Chr12:58142333
GRCh38:
Chr12:57748550
CDK4, TSPAN31H296RHereditary melanoma, Hereditary cancer-predisposing syndromeUncertain significance
(Jul 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000186037
41.
GRCh37:
Chr12:58142334
GRCh38:
Chr12:57748551
CDK4, TSPAN31H296YHereditary melanoma, not specified, Hereditary cancer-predisposing syndrome,
not provided
Uncertain significance
(Jul 19, 2021)
criteria provided, multiple submitters, no conflictsVCV000188345
42.
GRCh37:
Chr12:58142338
GRCh38:
Chr12:57748555
TSPAN31, CDK4Hereditary cancer-predisposing syndrome, Hereditary melanomaLikely benign
(Sep 20, 2019)
criteria provided, multiple submitters, no conflictsVCV000483280
43.
GRCh37:
Chr12:58142339
GRCh38:
Chr12:57748556
CDK4, TSPAN31Y294CHereditary melanomaUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV000841483
44.
GRCh37:
Chr12:58142339-58142340
GRCh38:
Chr12:57748556-57748557
CDK4, TSPAN31Y294fsnot providedUncertain significance
(Mar 26, 2019)
criteria provided, single submitterVCV000801143
45.
GRCh37:
Chr12:58142344
GRCh38:
Chr12:57748561
CDK4, TSPAN31Hereditary cancer-predisposing syndromeLikely benign
(Feb 23, 2018)
criteria provided, single submitterVCV000822721
46.
GRCh37:
Chr12:58142348
GRCh38:
Chr12:57748565
CDK4, TSPAN31Q291PHereditary melanomaUncertain significance
(May 21, 2020)
criteria provided, single submitterVCV001046694
47.
GRCh37:
Chr12:58142348-58142349
GRCh38:
Chr12:57748565-57748566
CDK4, TSPAN31Q291fsHereditary melanomaUncertain significance
(Apr 23, 2019)
criteria provided, single submitterVCV000952526
48.
GRCh37:
Chr12:58142350
GRCh38:
Chr12:57748567
TSPAN31, CDK4Hereditary melanomaLikely benign
(Nov 28, 2020)
criteria provided, single submitterVCV001095351
49.
GRCh37:
Chr12:58142350
GRCh38:
Chr12:57748567
CDK4, TSPAN31Hereditary melanoma, Hereditary cancer-predisposing syndromeLikely benign
(Jun 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000822675
50.
GRCh37:
Chr12:58142351
GRCh38:
Chr12:57748568
CDK4, TSPAN31L290PHereditary cancer-predisposing syndrome, Hereditary melanoma, not provided
Uncertain significance
(Nov 7, 2019)
criteria provided, multiple submitters, no conflictsVCV000822668
51.
GRCh37:
Chr12:58142352
GRCh38:
Chr12:57748569
CDK4, TSPAN31Hereditary melanoma, not providedLikely benign
(May 25, 2020)
criteria provided, single submitterVCV000758100
52.
GRCh37:
Chr12:58142352
GRCh38:
Chr12:57748569
CDK4, TSPAN31L290MHereditary melanoma, not providedUncertain significance
(Nov 18, 2018)
criteria provided, multiple submitters, no conflictsVCV000495535
53.
GRCh37:
Chr12:58142354
GRCh38:
Chr12:57748571
CDK4, TSPAN31A289fsHereditary cancer-predisposing syndromeUncertain significance
(Jun 21, 2018)
criteria provided, single submitterVCV000822640
54.
GRCh37:
Chr12:58142356
GRCh38:
Chr12:57748573
TSPAN31, CDK4Hereditary melanomaLikely benign
(Mar 1, 2020)
criteria provided, single submitterVCV001089164
55.
GRCh37:
Chr12:58142357
GRCh38:
Chr12:57748574
CDK4, TSPAN31R288PHereditary cancer-predisposing syndromeUncertain significance
(Nov 5, 2018)
criteria provided, single submitterVCV000822622
56.
GRCh37:
Chr12:58142357
GRCh38:
Chr12:57748574
CDK4, TSPAN31R288QHereditary melanoma, not provided, Hereditary cancer-predisposing syndrome
Uncertain significance
(Oct 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000246278
57.
GRCh37:
Chr12:58142358
GRCh38:
Chr12:57748575
CDK4, TSPAN31R288*Hereditary melanomaUncertain significance
(Jul 27, 2020)
criteria provided, single submitterVCV000857478
58.
GRCh37:
Chr12:58142358
GRCh38:
Chr12:57748575
CDK4, TSPAN31R288Gnot providedUncertain significance
(Feb 5, 2014)
criteria provided, single submitterVCV000127521
59.
GRCh37:
Chr12:58142364
GRCh38:
Chr12:57748581
CDK4, TSPAN31A286SHereditary melanomaUncertain significance
(Nov 20, 2018)
criteria provided, single submitterVCV000642473
60.
GRCh37:
Chr12:58142369
GRCh38:
Chr12:57748586
CDK4, TSPAN31I284THereditary cancer-predisposing syndrome, Hereditary melanomaUncertain significance
(Sep 19, 2018)
criteria provided, multiple submitters, no conflictsVCV000232210
61.
GRCh37:
Chr12:58142370
GRCh38:
Chr12:57748587
CDK4, TSPAN31I284Vnot provided, Hereditary melanomaUncertain significance
(Jul 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000182406
62.
GRCh37:
Chr12:58142371
GRCh38:
Chr12:57748588
CDK4, TSPAN31Hereditary cancer-predisposing syndromeLikely benign
(May 14, 2019)
criteria provided, single submitterVCV000822510
63.
GRCh37:
Chr12:58142372
GRCh38:
Chr12:57748589
CDK4, TSPAN31R283PHereditary melanomaUncertain significance
(Jun 13, 2020)
criteria provided, single submitterVCV001054508
64.
GRCh37:
Chr12:58142372
GRCh38:
Chr12:57748589
CDK4, TSPAN31R283QHereditary cancer-predisposing syndromeUncertain significance
(Apr 2, 2018)
criteria provided, single submitterVCV000822506
65.
GRCh37:
Chr12:58142373
GRCh38:
Chr12:57748590
TSPAN31, CDK4R283*Hereditary melanomaUncertain significance
(Oct 14, 2020)
criteria provided, single submitterVCV000855552
66.
GRCh37:
Chr12:58142374
GRCh38:
Chr12:57748591
TSPAN31, CDK4Hereditary melanoma, Hereditary cancer-predisposing syndromeLikely benign
(Nov 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000483311
67.
GRCh37:
Chr12:58142377
GRCh38:
Chr12:57748594
CDK4, TSPAN31Hereditary melanoma, Hereditary cancer-predisposing syndromeLikely benign
(May 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000414923
68.
GRCh37:
Chr12:58142379
GRCh38:
Chr12:57748596
CDK4, TSPAN31H281NHereditary melanomaUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV001006345
69.
GRCh37:
Chr12:58142379
GRCh38:
Chr12:57748596
CDK4, TSPAN31H281YHereditary melanoma, Hereditary cancer-predisposing syndrome, Cutaneous malignant melanoma 3
Uncertain significance
(Oct 16, 2020)
criteria provided, multiple submitters, no conflictsVCV000483309
70.
GRCh37:
Chr12:58142379
GRCh38:
Chr12:57748596
CDK4, TSPAN31H281DHereditary melanoma, Hereditary cancer-predisposing syndromeUncertain significance
(Jan 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000232051
71.
GRCh37:
Chr12:58142380
GRCh38:
Chr12:57748597
CDK4, TSPAN31Hereditary melanomaLikely benign
(Oct 3, 2020)
criteria provided, single submitterVCV001147811
72.
GRCh37:
Chr12:58142382
GRCh38:
Chr12:57748599
TSPAN31, CDK4P280SHereditary cancer-predisposing syndrome, Hereditary melanomaUncertain significance
(Oct 23, 2018)
criteria provided, multiple submitters, no conflictsVCV000652816
73.
GRCh37:
Chr12:58142385-58142386
GRCh38:
Chr12:57748602-57748603
CDK4, TSPAN31N279fsHereditary melanomaUncertain significance
(Feb 21, 2019)
criteria provided, single submitterVCV000834447
74.
GRCh37:
Chr12:58142386
GRCh38:
Chr12:57748603
CDK4, TSPAN31Hereditary melanoma, Hereditary cancer-predisposing syndrome, not specified,
not provided
Benign/Likely benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000219965
75.
GRCh37:
Chr12:58142391
GRCh38:
Chr12:57748608
CDK4, TSPAN31T277AHereditary melanoma, Hereditary cancer-predisposing syndromeUncertain significance
(Oct 29, 2020)
criteria provided, multiple submitters, no conflictsVCV000230297
76.
GRCh37:
Chr12:58142397
GRCh38:
Chr12:57748614
CDK4, TSPAN31M275LHereditary melanoma, Hereditary cancer-predisposing syndrome, not provided
Uncertain significance
(Nov 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000141405
77.
GRCh37:
Chr12:58142399
GRCh38:
Chr12:57748616
CDK4, TSPAN31E274GHereditary melanoma, Hereditary cancer-predisposing syndromeUncertain significance
(Aug 22, 2019)
criteria provided, multiple submitters, no conflictsVCV000581541
78.
GRCh37:
Chr12:58142404
GRCh38:
Chr12:57748621
CDK4, MIR6759, TSPAN31Hereditary melanoma, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Jun 13, 2019)
criteria provided, conflicting interpretationsVCV000827505
79.
GRCh37:
Chr12:58142405
GRCh38:
Chr12:57748622
CDK4, MIR6759, TSPAN31Hereditary melanomaLikely benign
(Oct 3, 2019)
criteria provided, single submitterVCV001113929
80.
GRCh37:
Chr12:58142405
GRCh38:
Chr12:57748622
MIR6759, TSPAN31, CDK4Hereditary melanomaUncertain significance
(Dec 4, 2017)
criteria provided, single submitterVCV000532283
81.
GRCh37:
Chr12:58142408
GRCh38:
Chr12:57748625
CDK4, TSPAN31, MIR6759Hereditary melanomaLikely benign
(Aug 14, 2019)
criteria provided, single submitterVCV001152275
82.
GRCh37:
Chr12:58142485-58142486
GRCh38:
Chr12:57748702-57748703
CDK4, TSPAN31not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001259384
83.
GRCh37:
Chr12:58142488-58142489
GRCh38:
Chr12:57748705-57748706
CDK4, TSPAN31not providedBenign
(Aug 13, 2019)
criteria provided, single submitterVCV001292859
84.
GRCh37:
Chr12:58142494
GRCh38:
Chr12:57748711
CDK4, TSPAN31not providedLikely benign
(Aug 15, 2019)
criteria provided, single submitterVCV001192966
85.
GRCh37:
Chr12:58142624
GRCh38:
Chr12:57748841
CDK4, TSPAN31not providedLikely benign
(Jun 28, 2018)
criteria provided, single submitterVCV001188699
86.
GRCh37:
Chr12:58142651
GRCh38:
Chr12:57748868
CDK4, TSPAN31not providedLikely benign
(Jun 23, 2018)
criteria provided, single submitterVCV001217745
87.
GRCh37:
Chr12:58142731
GRCh38:
Chr12:57748948
CDK4, TSPAN31not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000676808
88.
GRCh37:
Chr12:58142850
GRCh38:
Chr12:57749067
CDK4, TSPAN31not providedBenign
(Jun 25, 2018)
criteria provided, single submitterVCV001292425
89.
GRCh37:
Chr12:58142854
GRCh38:
Chr12:57749071
CDK4, TSPAN31not providedBenign
(Jun 22, 2018)
criteria provided, single submitterVCV001182049
90.
GRCh37:
Chr12:58142925-58142926
GRCh38:
Chr12:57749142-57749143
CDK4, TSPAN31not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000675712
91.
GRCh37:
Chr12:58142954
GRCh38:
Chr12:57749171
CDK4, TSPAN31not specifiedLikely benign
(Jun 5, 2017)
criteria provided, single submitterVCV000517936
92.
GRCh37:
Chr12:58142958
GRCh38:
Chr12:57749175
TSPAN31, CDK4Hereditary melanomaLikely benign
(Sep 28, 2017)
criteria provided, single submitterVCV000532302
93.
GRCh37:
Chr12:58142961
GRCh38:
Chr12:57749178
TSPAN31, CDK4Hereditary melanoma, Hereditary cancer-predisposing syndromeUncertain significance
(Aug 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000408334
94.
GRCh37:
Chr12:58142971
GRCh38:
Chr12:57749188
TSPAN31, CDK4Hereditary cancer-predisposing syndrome, Hereditary melanoma, not provided
Benign/Likely benign
(Nov 10, 2020)
criteria provided, multiple submitters, no conflictsVCV000483283
95.
GRCh37:
Chr12:58142978
GRCh38:
Chr12:57749195
TSPAN31, CDK4A269VHereditary melanomaUncertain significance
(Nov 19, 2019)
criteria provided, single submitterVCV000656768
96.
GRCh37:
Chr12:58142979
GRCh38:
Chr12:57749196
CDK4, TSPAN31A269THereditary cancer-predisposing syndromeUncertain significance
(Dec 26, 2019)
criteria provided, single submitterVCV000186377
97.
GRCh37:
Chr12:58142980
GRCh38:
Chr12:57749197
CDK4, TSPAN31Hereditary melanomaLikely benign
(May 7, 2019)
criteria provided, single submitterVCV001086511
98.
GRCh37:
Chr12:58142983
GRCh38:
Chr12:57749200
TSPAN31, CDK4Hereditary melanomaLikely benign
(Feb 6, 2020)
criteria provided, single submitterVCV001086955
99.
GRCh37:
Chr12:58142983
GRCh38:
Chr12:57749200
TSPAN31, CDK4Hereditary cancer-predisposing syndrome, Hereditary melanomaLikely benign
(Nov 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000463479
100.
GRCh37:
Chr12:58142984
GRCh38:
Chr12:57749201
CDK4, TSPAN31S267LHereditary melanoma, Hereditary cancer-predisposing syndrome, not specified
Uncertain significance
(Oct 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000439048
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