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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr12:282465-133773393
GRCh38:
Chr12:121271-133196807
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, COQ10A, COQ5, CORO1C, COX14, COX6A1, CPM, CPNE8, CPSF6, CRACR2A, CRADD, CREBL2, CRY1, CS, CSAD, CSRNP2, CSRP2, CTDSP2, CUX2, CYP27B1, DAO, DAZAP2, DBX2, DCD, DCN, DCP1B, DCTN2, DDIT3, DDN, DDN-AS1, DDX11, DDX11-AS1, DDX23, DDX47, DDX51, DDX54, DDX55, DENND5B, DENND5B-AS1, DENR, DEPDC4, DERA, DGKA, DHH, DHX37, DIABLO, DIP2B, DNAH10, DNAI7, DNAJC14, DNAJC22, DNM1L, DPPA3, DPY19L2, DRAM1, DTX1, DTX3, DUSP16, DUSP6, DYNLL1, DYRK2, DYRK4, E2F7, EEA1, EEF1AKMT3, EID3, EIF2B1, EIF2S3B, EIF4B, ELK3, EMG1, EMP1, ENDOU, ENO2, EP400, EPS8, EPYC, ERBB3, ERC1, ERGIC2, ERP27, ERP29, ESPL1, ESYT1, ETFBKMT, ETFRF1, ETNK1, ETNK1-DT, ETV6, FAIM2, FAM186A, FAM186B, FAM216A, FAM222A, FAM222A-AS1, FAM234B, FAM242C, FAM66C, FAM71C, FAM90A1, FAR2, FBRSL1, FBXL14, FBXO21, FBXW8, FGD4, FGD6, FGF23, FGF6, FGFR1OP2, FICD, FIGNL2, FIGNL2-DT, FKBP11, FKBP4, FLJ12825, FLJ13224, FMNL3, FOXJ2, FOXM1, FOXN4, FRA12A, FRS2, FZD10, FZD10-AS1, GABARAPL1, GABARAPL1-AS1, GALNT4, GALNT6, GALNT8, GALNT9, GAPDH, GAS2L3, GATC, GAU1, GCN1, GDF11, GDF3, GIHCG, GIT2, GLI1, GLIPR1, GLIPR1L1, GLIPR1L2, GLS2, GLT1D1, GLT8D2, GLTP, GNB3, GNPTAB, GNS, GOLGA3, GOLT1B, GPD1, GPN3, GPR162, GPR182, GPR19, GPR84, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GRIP1, GSG1, GTF2H3, GTSF1, GUCY2C, GXYLT1, GYS2, H1-7, H2AJ, H3-5, H4-16, HAL, HCAR1, HCAR2, HCAR3, HCFC2, HDAC7, HEBP1, HECTD4, HELB, HIGD1C, HIP1R, HMGA2, HMGA2-AS1, HNF1A, HNF1A-AS1, HNRNPA1, HOTAIR, HOXC-AS1, HOXC-AS2, HOXC-AS3, HOXC10, HOXC11, HOXC12, HOXC13, HOXC13-AS, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HPD, HRK, HSD17B6, HSP90B1, HSPB8, HVCN1, IAPP, IFFO1, IFNG, IFNG-AS1, IFT81, IGF1, IGFBP6, IKBIP, IKZF4, IL22, IL23A, IL26, IL31, ING4, INHBC, INHBE, INTS13, IPO8, IQCD, IQSEC3, IRAG2, IRAK3, IRAK4, ISCU, ITFG2, ITFG2-AS1, ITGA5, ITGA7, ITGB7, ITPR2, KANSL2, KCNA1, KCNA5, KCNA6, KCNC2, KCNH3, KCNJ8, KCNMB4, KCTD10, KDM2B, KDM2B-DT, KDM5A, KERA, KICS2, KIF21A, KIF5A, KITLG, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, KMT2D, KMT5A, KNTC1, KRAS, KRR1, KRT1, KRT18, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT7-AS, KRT71, KRT72, KRT73, KRT73-AS1, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, KSR2, LACRT, LAG3, LALBA, LARP4, LDHB, LEMD3, LETMD1, LGR5, LHX5, LHX5-AS1, LIMA1, LIN7A, LINC00173, LINC00477, LINC00485, LINC00507, LINC00508, LINC00592, LINC00612, LINC00615, LINC00934, LINC00937, LINC00938, LINC00939, LINC00940, LINC00941, LINC00942, LINC00943, LINC00944, LINC00987, LINC01089, LINC01234, LINC01252, LINC01257, LINC01405, LINC01465, LINC01479, LINC01486, LINC01489, LINC01490, LINC01498, LINC01559, LINC01619, LINC02156, LINC02231, LINC02258, LINC02347, LINC02350, LINC02356, LINC02359, LINC02361, LINC02366, LINC02367, LINC02368, LINC02369, LINC02370, LINC02372, LINC02373, LINC02375, LINC02376, LINC02378, LINC02381, LINC02384, LINC02385, LINC02386, LINC02387, LINC02388, LINC02389, LINC02392, LINC02393, LINC02394, LINC02395, LINC02396, LINC02397, LINC02398, LINC02399, LINC02400, LINC02401, LINC02402, LINC02403, LINC02404, LINC02405, LINC02406, LINC02408, LINC02409, LINC02410, LINC02411, LINC02412, LINC02413, LINC02414, LINC02415, LINC02417, LINC02418, LINC02419, LINC02420, LINC02421, LINC02422, LINC02423, LINC02424, LINC02425, LINC02426, LINC02439, LINC02440, LINC02441, LINC02442, LINC02443, LINC02444, LINC02445, LINC02446, LINC02448, LINC02449, LINC02450, LINC02451, LINC02453, LINC02454, LINC02455, LINC02458, LINC02459, LINC02460, LINC02461, LINC02464, LINC02468, LINC02470, LINC02471, LINC02555, LINC02598, LINC02617, LINC02820, LINC02823, LINC02824, LINC02825, LINC02826, LINC02827, LINC02874, LINC02882, LINC02909, LLPH, LLPH-DT, LMBR1L, LMNTD1, LMO3, LNCOG, LOC100128253, LOC100128276, LOC100130238, LOC100130268, LOC100240734, LOC100240735, LOC100287944, LOC100288798, LOC100505978, LOC100506551, LOC100506606, LOC100506691, LOC100506869, 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, 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, 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, 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, SBNO1, RPS26, RSRC2, RXYLT1, RXYLT1-AS1, SARNP, SART3, SBNO1-AS1, SCAF11, SCARB1, SCARNA10, SCARNA11, SCARNA12, SCAT2, SCN8A, SCNN1A, SCYL2, SDR9C7, SDS, SDSL, SELPLG, 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
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150740
2.
GRCh37:
Chr12:105628455-112632490
GRCh38:
Chr12:105234677-112194686
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057157
3.
GRCh37:
Chr12:109836267-110075116
GRCh38:
Chr12:109398462-109637311
KCTD10, MMAB, MVK, MYO1H, UBE3BSee casesBenign
(Oct 1, 2010)
no assertion criteria providedVCV000147614
4.
GRCh37:
Chr12:110006577
GRCh38:
Chr12:109568772
MMAB, MVKVitamin B12-responsive methylmalonic acidemia type cblB, not specified, Methylmalonic acidemia,
Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
Benign/Likely benign
(Nov 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000096243
5.
GRCh37:
Chr12:110009465
GRCh38:
Chr12:109571660
MVK, MMABT62Mnot provided, Vitamin B12-responsive methylmalonic acidemia type cblB, Mevalonic aciduria,
Hyperimmunoglobulin D with periodic fever
Benign/Likely benign
(May 11, 2021)
criteria provided, multiple submitters, no conflictsVCV000203817
6.
GRCh37:
Chr12:110009813-110019888
GRCh38:
Chr12:109572008-109582083
MMAB, MVKPorokeratosis 3, disseminated superficial actinic typePathogenic
(Jul 23, 2015)
no assertion criteria providedVCV000217750
7.
GRCh37:
Chr12:110011229
GRCh38:
Chr12:109573424
MMAB, MVKMevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Vitamin B12-responsive methylmalonic acidemia type cblB,
not provided, Methylmalonic acidemia, not specified
Benign
(Dec 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000262247
8.
GRCh37:
Chr12:110011230
GRCh38:
Chr12:109573425
MMAB, MVKR19HMevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Vitamin B12-responsive methylmalonic acidemia type cblB,
Methylmalonic acidemia, not specified, not provided
Benign
(Dec 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000262246
9.
GRCh37:
Chr12:110011270
GRCh38:
Chr12:109573465
MMAB, MVKVitamin B12-responsive methylmalonic acidemia type cblBLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000798072
10.
GRCh37:
Chr12:110011272
GRCh38:
Chr12:109573467
MMAB, MVKG5DVitamin B12-responsive methylmalonic acidemia type cblBUncertain significance
(Sep 1, 2020)
no assertion criteria providedVCV000989541
11.
GRCh37:
Chr12:110011274
GRCh38:
Chr12:109573469
MMAB, MVKC4*not provided, Vitamin B12-responsive methylmalonic acidemia type cblBPathogenic/Likely pathogenic
(May 12, 2021)
criteria provided, multiple submitters, no conflictsVCV000550793
12.
GRCh37:
Chr12:110011276
GRCh38:
Chr12:109573471
MMAB, MVKC4RVitamin B12-responsive methylmalonic acidemia type cblBLikely benign
(Dec 2, 2020)
criteria provided, single submitterVCV000711515
13.
GRCh37:
Chr12:110011279
GRCh38:
Chr12:109573474
MMAB, MVKV3MVitamin B12-responsive methylmalonic acidemia type cblBUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000883487
14.
GRCh37:
Chr12:110011284
GRCh38:
Chr12:109573479
MMAB, MVKM1RVitamin B12-responsive methylmalonic acidemia type cblBLikely pathogenic
(Feb 14, 2020)
criteria provided, single submitterVCV001066680
15.
GRCh37:
Chr12:110011284
GRCh38:
Chr12:109573479
MVK, MMABM1TVitamin B12-responsive methylmalonic acidemia type cblBPathogenic
(Aug 8, 2015)
no assertion criteria providedVCV000225187
16.
GRCh37:
Chr12:110011285
GRCh38:
Chr12:109573480
MMAB, MVKM1LVitamin B12-responsive methylmalonic acidemia type cblBLikely pathogenic
(Jun 29, 2020)
criteria provided, single submitterVCV000861176
17.
GRCh37:
Chr12:110011289
GRCh38:
Chr12:109573484
MMAB, MVKnot provided, Vitamin B12-responsive methylmalonic acidemia type cblBConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000307082
18.
GRCh37:
Chr12:110011292
GRCh38:
Chr12:109573487
MVK, MMABnot specifiedLikely benign
(Jan 5, 2018)
criteria provided, single submitterVCV000513728
19.
GRCh37:
Chr12:110011294
GRCh38:
Chr12:109573489
MMAB, MVKnot specified, Methylmalonic acidemiaConflicting interpretations of pathogenicity
(Jun 19, 2017)
criteria provided, conflicting interpretationsVCV000307083
20.
GRCh37:
Chr12:110011296
GRCh38:
Chr12:109573491
MVK, MMABVitamin B12-responsive methylmalonic acidemia type cblB, Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000881123
21.
GRCh37:
Chr12:110011315
GRCh38:
Chr12:109573510
MMAB, MVKnot specifiedLikely benign
(Feb 7, 2017)
criteria provided, single submitterVCV000516274
22.
GRCh37:
Chr12:110011334
GRCh38:
Chr12:109573529
MMAB, MVKMethylmalonic acidemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000307084
23.
GRCh37:
Chr12:110011354
GRCh38:
Chr12:109573549
MMAB, MVKMethylmalonic acidemia, Vitamin B12-responsive methylmalonic acidemia type cblBUncertain significance
(Jan 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000307085
24.
GRCh37:
Chr12:110011368
GRCh38:
Chr12:109573563
MMAB, MVKnot providedLikely benign
(May 18, 2020)
criteria provided, single submitterVCV001219415
25.
GRCh37:
Chr12:110011368
GRCh38:
Chr12:109573563
MMAB, MVKHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097893
26.
GRCh37:
Chr12:110011465
GRCh38:
Chr12:109573660
MVK, MMABnot specified, Vitamin B12-responsive methylmalonic acidemia type cblBBenign
(Dec 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000534562
27.
GRCh37:
Chr12:110011486
GRCh38:
Chr12:109573681
MVKnot providedLikely benign
(Jun 29, 2018)
criteria provided, single submitterVCV001211163
28.
GRCh37:
Chr12:110011515
GRCh38:
Chr12:109573710
MMAB, MVKnot provided, Methylmalonic acidemia, Mevalonic aciduria,
Hyperimmunoglobulin D with periodic fever
Benign/Likely benign
(Jul 10, 2018)
criteria provided, multiple submitters, no conflictsVCV000307086
29.
GRCh37:
Chr12:110011638
GRCh38:
Chr12:109573833
MVKHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307087
30.
GRCh37:
Chr12:110011660
GRCh38:
Chr12:109573855
MVKHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307088
31.
GRCh37:
Chr12:110011664
GRCh38:
Chr12:109573859
MVKnot specifiedLikely benign
(Dec 21, 2016)
criteria provided, single submitterVCV000391960
32.
GRCh37:
Chr12:110011678
GRCh38:
Chr12:109573873
MVKHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000307089
33.
GRCh37:
Chr12:110011689
GRCh38:
Chr12:109573884
MVKnot specified, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Benign/Likely benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000307090
34.
GRCh37:
Chr12:110011694
GRCh38:
Chr12:109573889
MVKnot specifiedLikely benign
(Jul 3, 2017)
criteria provided, single submitterVCV000389976
35.
GRCh37:
Chr12:110011739
GRCh38:
Chr12:109573934
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001278576
36.
GRCh37:
Chr12:110012467
GRCh38:
Chr12:109574662
MVKnot providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001287574
37.
GRCh37:
Chr12:110012510
GRCh38:
Chr12:109574705
MVKnot providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001292732
38.
GRCh37:
Chr12:110012597
GRCh38:
Chr12:109574792
MVKnot providedLikely benign
(Apr 10, 2018)
criteria provided, single submitterVCV000669086
39.
GRCh37:
Chr12:110012606
GRCh38:
Chr12:109574801
MVKnot specifiedLikely benign
(Jun 12, 2017)
criteria provided, single submitterVCV000510281
40.
GRCh37:
Chr12:110012612-110012703
GRCh38:
Chr12:109574807-109574898
MVKHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097559
41.
GRCh37:
Chr12:110012641
GRCh38:
Chr12:109574836
MVKV5AMevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria,
Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever, not provided
Uncertain significance
(Feb 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000234376
42.
GRCh37:
Chr12:110012643-110012661
GRCh38:
Chr12:109574838-109574856
MVKL6fsHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaPathogenic
(Mar 1, 2005)
no assertion criteria providedVCV000011935
43.
GRCh37:
Chr12:110012645
GRCh38:
Chr12:109574840
MVKnot providedLikely benign
(May 1, 2021)
criteria provided, single submitterVCV001175836
44.
GRCh37:
Chr12:110012646
GRCh38:
Chr12:109574841
MVKMevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever
Likely benign
(Sep 25, 2020)
criteria provided, single submitterVCV001151893
45.
GRCh37:
Chr12:110012649
GRCh38:
Chr12:109574844
MVKV8LHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097577
46.
GRCh37:
Chr12:110012656
GRCh38:
Chr12:109574851
MVKA10Vnot providedUncertain significance
(Jan 1, 2020)
criteria provided, single submitterVCV000872779
47.
GRCh37:
Chr12:110012659
GRCh38:
Chr12:109574854
MVKP11Lnot providedUncertain significance
(Mar 30, 2016)
criteria provided, single submitterVCV000234377
48.
GRCh37:
Chr12:110012660
GRCh38:
Chr12:109574855
MVKHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000882748
49.
GRCh37:
Chr12:110012663
GRCh38:
Chr12:109574858
MVKPorokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
Uncertain significance
(Aug 23, 2019)
criteria provided, single submitterVCV000935668
50.
GRCh37:
Chr12:110012664
GRCh38:
Chr12:109574859
MVKK13QHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000882749
51.
GRCh37:
Chr12:110012664
GRCh38:
Chr12:109574859
MVKK13*Hyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097585
52.
GRCh37:
Chr12:110012685
GRCh38:
Chr12:109574880
MVKH20NHyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type
Pathogenic
(Jul 1, 2019)
criteria provided, single submitterVCV000649235
53.
GRCh37:
Chr12:110012686
GRCh38:
Chr12:109574881
MVKH20PMevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever,
not provided, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Pathogenic
(Oct 9, 2019)
criteria provided, multiple submitters, no conflictsVCV000011931
54.
GRCh37:
Chr12:110012687
GRCh38:
Chr12:109574882
MVKMevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type
Likely benign
(Jun 15, 2020)
criteria provided, single submitterVCV001094379
55.
GRCh37:
Chr12:110012687
GRCh38:
Chr12:109574882
MVKH20Qnot provided, Hyperimmunoglobulin D with periodic feverLikely pathogenic
(Dec 18, 2019)
criteria provided, single submitterVCV000097602
56.
GRCh37:
Chr12:110012698-110012699
GRCh38:
Chr12:109574893-109574894
MVKG25fsMevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type,
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Pathogenic
(Aug 15, 2018)
criteria provided, single submitterVCV000088836
57.
GRCh37:
Chr12:110012702
GRCh38:
Chr12:109574897
MVKHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097617
58.
GRCh37:
Chr12:110012705
GRCh38:
Chr12:109574900
MVKnot providedUncertain significance
(Apr 22, 2019)
criteria provided, single submitterVCV001188196
59.
GRCh37:
Chr12:110012706
GRCh38:
Chr12:109574901
MVKPorokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
Likely pathogenic
(Sep 3, 2019)
criteria provided, single submitterVCV000960301
60.
GRCh37:
Chr12:110012707
GRCh38:
Chr12:109574902
MVKHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097623
61.
GRCh37:
Chr12:110012712-110012715
GRCh38:
Chr12:109574907-109574910
MVKPorokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever,
not specified
Likely benign
(Oct 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000246309
62.
GRCh37:
Chr12:110012713
GRCh38:
Chr12:109574908
MVKHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307091
63.
GRCh37:
Chr12:110012766
GRCh38:
Chr12:109574961
MVKnot specified, not providedBenign
(Jul 7, 2018)
criteria provided, multiple submitters, no conflictsVCV000439924
64.
GRCh37:
Chr12:110012810
GRCh38:
Chr12:109575005
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001224579
65.
GRCh37:
Chr12:110012846
GRCh38:
Chr12:109575041
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001225628
66.
GRCh37:
Chr12:110012882
GRCh38:
Chr12:109575077
MVKnot provided, Hyperimmunoglobulin D with periodic feverBenign
(Mar 3, 2015)
criteria provided, single submitterVCV000097622
67.
GRCh37:
Chr12:110012970
GRCh38:
Chr12:109575165
MVKnot providedLikely benign
(Jul 9, 2018)
criteria provided, single submitterVCV001212758
68.
GRCh37:
Chr12:110013627
GRCh38:
Chr12:109575822
MVKnot providedLikely benign
(Jul 14, 2018)
criteria provided, single submitterVCV001205653
69.
GRCh37:
Chr12:110013639
GRCh38:
Chr12:109575834
MVKnot specified, not providedBenign
(Jul 3, 2018)
criteria provided, multiple submitters, no conflictsVCV000439921
70.
GRCh37:
Chr12:110013741
GRCh38:
Chr12:109575936
MVKHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097624
71.
GRCh37:
Chr12:110013801
GRCh38:
Chr12:109575996
MVKPorokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Likely pathogenic
(Aug 26, 2019)
criteria provided, single submitterVCV000943304
72.
GRCh37:
Chr12:110013804
GRCh38:
Chr12:109575999
MVKV27GPorokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Uncertain significance
(Aug 26, 2019)
criteria provided, single submitterVCV000943307
73.
GRCh37:
Chr12:110013810
GRCh38:
Chr12:109576005
MVKL29fsHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097635
74.
GRCh37:
Chr12:110013828
GRCh38:
Chr12:109576023
MVKL35SHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097563
75.
GRCh37:
Chr12:110013840
GRCh38:
Chr12:109576035
MVKL39PHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097573
76.
GRCh37:
Chr12:110013843
GRCh38:
Chr12:109576038
MVKR40Qnot provided, Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type,
Hyperimmunoglobulin D with periodic fever
Uncertain significance
(Apr 25, 2018)
criteria provided, multiple submitters, no conflictsVCV000579239
77.
GRCh37:
Chr12:110013846
GRCh38:
Chr12:109576041
MVKL41PPorokeratosis 3, disseminated superficial actinic typePathogenic
(Oct 1, 2012)
no assertion criteria providedVCV000039728
78.
GRCh37:
Chr12:110013851-110013852
GRCh38:
Chr12:109576046-109576047
MVKH44fsPorokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever,
Hyperimmunoglobulin D with periodic fever
Pathogenic
(May 13, 2019)
criteria provided, single submitterVCV000097574
79.
GRCh37:
Chr12:110013868
GRCh38:
Chr12:109576063
MVKMevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type
Likely benign
(Feb 7, 2019)
criteria provided, single submitterVCV001093455
80.
GRCh37:
Chr12:110013875
GRCh38:
Chr12:109576070
MVKL51Fnot providedUncertain significance
(Jun 30, 2017)
criteria provided, single submitterVCV000618224
81.
GRCh37:
Chr12:110013879
GRCh38:
Chr12:109576074
MVKS52Inot providedUncertain significance
(Jul 1, 2019)
criteria provided, single submitterVCV000872780
82.
GRCh37:
Chr12:110013879
GRCh38:
Chr12:109576074
MVK, MMABS52NMethylmalonic acidemia, not specified, Hyperimmunoglobulin D with periodic fever,
Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, not provided,
Mevalonic aciduria, none provided, Hyperimmunoglobulin D with periodic fever
Benign/Likely benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000129638
83.
GRCh37:
Chr12:110013890
GRCh38:
Chr12:109576085
MVKI56VPorokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Uncertain significance
(Aug 21, 2018)
criteria provided, single submitterVCV000664958
84.
GRCh37:
Chr12:110013902
GRCh38:
Chr12:109576097
MVKR60WMevalonic aciduria, Hyperimmunoglobulin D with periodic feverUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000883541
85.
GRCh37:
Chr12:110013909
GRCh38:
Chr12:109576104
MVKW62*not provided, Hyperimmunoglobulin D with periodic feverPathogenicno assertion criteria providedVCV000097576
86.
GRCh37:
Chr12:110013911
GRCh38:
Chr12:109576106
MVKD63NMevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever
Uncertain significance
(Dec 2, 2019)
criteria provided, single submitterVCV000861832
87.
GRCh37:
Chr12:110013940
GRCh38:
Chr12:109576135
MVKnot providedLikely benignno assertion criteria providedVCV001284675
88.
GRCh37:
Chr12:110013954
GRCh38:
Chr12:109576149
MVKMevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type,
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, not provided
Benign/Likely benign
(Dec 28, 2020)
criteria provided, multiple submitters, no conflictsVCV000234378
89.
GRCh37:
Chr12:110013958
GRCh38:
Chr12:109576153
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001246432
90.
GRCh37:
Chr12:110014055
GRCh38:
Chr12:109576250
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001265816
91.
GRCh37:
Chr12:110014056
GRCh38:
Chr12:109576251
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001229234
92.
GRCh37:
Chr12:110014130
GRCh38:
Chr12:109576325
MVKnot providedLikely benign
(Jul 10, 2018)
criteria provided, single submitterVCV001220291
93.
GRCh37:
Chr12:110017567
GRCh38:
Chr12:109579762
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001241340
94.
GRCh37:
Chr12:110017589
GRCh38:
Chr12:109579784
MVKnot providedUncertain significance
(Jun 2, 2015)
criteria provided, single submitterVCV000234493
95.
GRCh37:
Chr12:110017607
GRCh38:
Chr12:109579802
MVKE76GMevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type
Uncertain significance
(Jun 26, 2019)
criteria provided, single submitterVCV000642096
96.
GRCh37:
Chr12:110017618
GRCh38:
Chr12:109579813
MVKV80Inone provided, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria,
Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria,
not provided
Conflicting interpretations of pathogenicity
(Nov 21, 2020)
criteria provided, conflicting interpretationsVCV000097578
97.
GRCh37:
Chr12:110017624
GRCh38:
Chr12:109579819
MVKT82AHyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria
Uncertain significance
(Mar 29, 2020)
criteria provided, single submitterVCV001061884
98.
GRCh37:
Chr12:110017634
GRCh38:
Chr12:109579829
MVKS85LPorokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Uncertain significance
(Aug 14, 2020)
criteria provided, single submitterVCV001023895
99.
GRCh37:
Chr12:110017638
GRCh38:
Chr12:109579833
MVKMevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type,
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Conflicting interpretations of pathogenicity
(Jun 26, 2020)
criteria provided, conflicting interpretationsVCV000881172
100.
GRCh37:
Chr12:110017656-110017662
GRCh38:
Chr12:109579851-109579857
MVKE93fsHyperimmunoglobulin D with periodic fever, MVK-Related DisordersUncertain significance
(Oct 5, 2017)
criteria provided, single submitterVCV000097579
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