ClinVar Miner

Variants from Department of Medical Genetics, Oslo University Hospital

Location: Norway  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
218 51 4 0 0 1 274

Gene and significance breakdown #

Total genes and gene combinations: 50
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
BRCA1 77 11 0 0 88
BRCA2 81 7 0 0 88
BRCA1, LOC126862571 21 1 1 0 23
FGFR2 6 2 0 0 8
KLF1, LOC117125591 2 4 0 0 6
EFNB1 0 4 0 0 4
IGHMBP2 0 4 0 0 4
TWIST1 1 3 0 0 4
AHDC1 1 1 0 0 2
BRCA1, LOC110485084, LOC111589216, LOC126862571 2 0 0 0 2
CBY1 2 0 0 0 2
FGFR3 2 0 0 0 2
IL11RA 0 2 0 0 2
KMT2D 0 0 2 0 2
LOC129998021, TWIST1 1 1 0 0 2
ABCB11, AGPS, ATF2, ATP5MC3, B3GALT1, BBS5, CCDC141, CDCA7, CERS6, CFAP210, CHN1, CHRNA1, CIR1, COBLL1, CSRNP3, CWC22, CYBRD1, DCAF17, DHRS9, DLX1, DLX2, DYNC1I2, ERICH2, EVX2, FAP, FASTKD1, FIGN, FKBP7, G6PC2, GAD1, GALNT3, GCA, GORASP2, GPR155, GRB14, HAT1, HNRNPA3, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFIH1, IFT70A, IFT70B, ITGA6, KCNH7, KLHL23, KLHL41, LNPK, LRP2, MAP3K20, METAP1D, METTL5, METTL8, MIR10B, MIR1258, MTX2, MYO3B, NFE2L2, NOSTRIN, OLA1, OSBPL6, PDE11A, PDK1, PHOSPHO2, PJVK, PLEKHA3, PPIG, PRKRA, RAPGEF4, RBM45, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SESTD1, SLC25A12, SLC38A11, SP3, SP5, SP9, SPC25, SSB, STK39, TLK1, TTC21B, TTN, UBE2E3, UBR3, WIPF1, XIRP2, ZNF385B 1 0 0 0 1
ABR, BHLHA9, CRK, DPH1, GEMIN4, GLOD4, HIC1, INPP5K, LIAT1, METTL16, MIR132, MIR212, MIR22, MNT, MRM3, MYO1C, NXN, OVCA2, PITPNA, PRPF8, RFLNB, RILP, RPA1, RPH3AL, RTN4RL1, SCARF1, SERPINF1, SERPINF2, SGSM2, SLC43A2, SMG6, SMYD4, SRR, TIMM22, TLCD2, TLCD3A, TRARG1, TSR1, VPS53, WDR81, YWHAE 1 0 0 0 1
ACKR3, AGAP1, AGXT, ALPG, ALPI, ALPP, ANKMY1, ANO7, AQP12A, AQP12B, ARL4C, ASB1, ASB18, ATG16L1, ATG4B, BOK, CAPN10, CHRND, CHRNG, COL6A3, COPS8, COPS9, D2HGDH, DGKD, DIS3L2, DNAJB3, DTYMK, DUSP28, ECEL1, EFHD1, EIF4E2, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GIGYF2, GPC1, GPR35, HDAC4, HDLBP, HES6, HJURP, ILKAP, ING5, IQCA1, KCNJ13, KIF1A, KLHL30, LOC100128563, LRRFIP1, MAB21L4, MIR149, MLPH, MROH2A, MTERF4, NDUFA10, NEU2, NEU4, NGEF, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, PRSS56, RAB17, RAMP1, RBM44, RNPEPL1, RTP5, SAG, SCLY, SEPTIN2, SH3BP4, SNED1, SNORC, SPP2, STK25, THAP4, TIGD1, TRAF3IP1, TRPM8, TWIST2, UBE2F, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, USP40 1 0 0 0 1
ACOT11, AK4, ALG6, ANGPTL3, ATG4C, BSND, C1orf87, C8A, C8B, CACHD1, CDCP2, CIMAP2, CPT2, CYB5RL, CYP2J2, CZIB, DAB1, DHCR24, DIO1, DMRTB1, DNAJC6, DOCK7, EFCAB7, FAM151A, FGGY, FOXD3, FYB2, GLIS1, HOOK1, IFT25, ITGB3BP, JAK1, JUN, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LRP8, LRRC42, MAGOH, MIR101-1, MROH7, MRPL37, MYSM1, NDC1, NFIA, OMA1, PARS2, PATJ, PCSK9, PDE4B, PGM1, PLPP3, PRKAA2, RAVER2, ROR1, SSBP3, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TTC22, TTC4, UBE2U, USP1, USP24, YIPF1 1 0 0 0 1
ADA2, ADORA2A, AIFM3, ARVCF, ATP6V1E1, BCL2L13, BCR, BID, C22orf15, C22orf39, CABIN1, CCDC116, CCT8L2, CDC45, CECR2, CECR3, CHCHD10, CLDN5, CLTCL1, COMT, CRKL, CRYBB2, CRYBB3, DDT, DDTL, DERL3, DGCR2, DGCR6, DGCR6L, DGCR8, DRICH1, ESS2, FAM230A, GAB4, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRK3, GSC2, GSTT1, GSTT2, GSTT2B, GUCD1, HDHD5, HIC2, HIRA, IGLC1, IGLL1, IGLL5, IL17RA, KIAA1671, KLHL22, LHFPL7, LRRC75B, LZTR1, MAPK1, MED15, MICAL3, MIF, MIR130B, MMP11, MRPL40, MYO18B, P2RX6, PEX26, PI4KA, PIWIL3, PPIL2, PPM1F, PRAME, PRODH, RAB36, RANBP1, RGL4, RIMBP3, RIMBP3B, RIMBP3C, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEPTIN5, SERPIND1, SGSM1, SLC25A1, SLC25A18, SLC2A11, SLC7A4, SMARCB1, SNAP29, SNRPD3, SPECC1L, SUSD2, TANGO2, TBX1, THAP7, TMEM121B, TMEM191B, TMEM191C, TOP3B, TRMT2A, TSSK2, TUBA8, TXNRD2, UBE2L3, UFD1, UPB1, USP18, USP41, VPREB1, VPREB3, XKR3, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF70, ZNF74 1 0 0 0 1
ADAMTS2, ARL10, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C5orf47, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, CNOT6, COL23A1, CPEB4, CPLX2, CREBRF, DBN1, DDX41, DOK3, DRD1, DUSP1, EFCAB9, EIF4E1B, ERGIC1, F12, FAF2, FAM153A, FAM153B, FAM193B, FBXW11, FGF18, FGFR4, FLT4, GFPT2, GPRIN1, GRK6, GRM6, HIGD2A, HK3, HNRNPAB, HNRNPH1, HRH2, KIAA1191, LMAN2, LOC100288254, LTC4S, MAML1, MAPK9, MGAT1, MGAT4B, MRNIP, MSX2, MXD3, N4BP3, NEURL1B, NHP2, NKX2-5, NOP16, NPM1, NSD1, OR2V1, OR2V2, OR2Y1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, RAB24, RACK1, RASGEF1C, RGS14, RMND5B, RNF130, RNF44, RPL26L1, RUFY1, SCGB3A1, SFXN1, SH3PXD2B, SIMC1, SLC34A1, SMIM23, SNCB, SNORA74B, SQSTM1, STC2, STK10, TBC1D9B, THOC3, TMED9, TRIM41, TRIM52, TRIM7, TRK-CTT2-3, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSPAN17, UBTD2, UIMC1, UNC5A, ZFP2, ZFP62, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 1 0 0 0 1
AFG1L, AK9, AMD1, ARMC2, ASCC3, ATG5, BEND3, BVES, CCN6, CCNC, CD164, CDC40, CDK19, CEP57L1, COQ3, CRYBG1, DDO, FAM229B, FAXC, FBXL4, FIG4, FOXO3, FYN, GPR6, GRIK2, GTF3C6, HACE1, HDAC2, HS3ST5, LAMA4, LIN28B, MARCKS, MCHR2, METTL24, MFSD4B, MICAL1, MTRES1, NR2E1, OSTM1, PDSS2, PNISR, POPDC3, POU3F2, PPIL6, PRDM1, PRDM13, PREP, QRSL1, REV3L, RFPL4B, RPF2, RTN4IP1, SCML4, SEC63, SESN1, SIM1, SLC16A10, SLC22A16, SMPD2, SNX3, SOBP, TRAF3IP2, TSTD3, TUBE1, USP45, WASF1, ZBTB24 1 0 0 0 1
AGMO, AGR2, AGR3, AHR, ANKMY2, BZW2, CRPPA, DGKB, FERD3L, HDAC9, ITGB8, LRRC72, MACC1, MEOX2, POLR1F, PRPS1L1, SNX13, SOSTDC1, TMEM196, TSPAN13, TWIST1 1 0 0 0 1
AK3, BNC2, CCDC171, CD274, CDC37L1, CER1, CNTLN, DMAC1, DMRT1, DMRT2, DMRT3, DOCK8, ERMP1, FREM1, GLDC, GLIS3, IL33, INSL4, INSL6, JAK2, KANK1, KCNV2, KDM4C, KIAA2026, LURAP1L, MIR101-2, MLANA, MPDZ, NFIB, PDCD1LG2, PLGRKT, PLPP6, PSIP1, PTPRD, PUM3, RANBP6, RCL1, RFX3, RIC1, RLN1, RLN2, SH3GL2, SLC1A1, SMARCA2, SNAPC3, SPATA6L, TPD52L3, TTC39B, TYRP1, UHRF2, VLDLR, ZDHHC21 1 0 0 0 1
ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, C11orf40, C11orf42, CARS1, CAVIN3, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, CRACR2B, CTSD, CYB5R2, DCHS1, DEAF1, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FHIP1B, GATD1, H19, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, ILK, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMO1, LRRC56, LSP1, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRPL17, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RIC8A, RNH1, RPLP2, RRM1, RRP8, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, STIM1, STK33, SYT8, SYT9, TAF10, TALDO1, TH, TIMM10B, TMEM80, TNNI2, TNNT3, TOLLIP, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, ZNF195, ZNF214, ZNF215 1 0 0 0 1
ASXL3 0 1 0 0 1
BNC2, CCDC171, CER1, FREM1, NFIB, PSIP1, SNAPC3, TTC39B, ZDHHC21 1 0 0 0 1
BRCA1, LOC110485084, LOC111589216 1 0 0 0 1
BRDT, BTBD8, C1orf146, CCDC18, DIPK1A, DR1, EPHX4, EVI5, FNBP1L, GFI1, GLMN, MTF2, RPAP2, RPL5, SNORD21, TMED5 1 0 0 0 1
CDK13 0 1 0 0 1
CHD7 0 1 0 0 1
CHRNB2 0 0 1 0 1
EHMT1 1 0 0 0 1
ERF 1 0 0 0 1
FBXL4 0 1 0 0 1
IFT122 0 1 0 0 1
KAT6B 1 0 0 0 1
KLF1, LOC117125592 0 0 0 1 1
KLF1, LOC130063673 0 1 0 0 1
LPAR6, RB1 1 0 0 0 1
MAN2B1 0 1 0 0 1
MED12 0 1 0 0 1
NFIX 0 1 0 0 1
PDE6H 1 0 0 0 1
PEX5 1 0 0 0 1
SRCAP 1 0 0 0 1
STIM1 1 0 0 0 1
TCF12 0 1 0 0 1
UBE3B 1 0 0 0 1
ZIC1 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 48
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Condition pathogenic likely pathogenic uncertain significance not provided total
Breast-ovarian cancer, familial, susceptibility to, 1 101 12 1 0 114
Breast-ovarian cancer, familial, susceptibility to, 2 81 7 0 0 88
Saethre-Chotzen syndrome 3 4 0 0 7
not provided 0 5 0 1 6
Craniofrontonasal syndrome 0 4 0 0 4
Crouzon syndrome 3 1 0 0 4
Autosomal recessive distal spinal muscular atrophy 1 0 3 0 0 3
Charcot-Marie-Tooth disease axonal type 2S 0 3 0 0 3
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 1 0 0 2
Acrocephalosyndactyly type I 2 0 0 0 2
BLOOD GROUP--LUTHERAN INHIBITOR; Congenital dyserythropoietic anemia type 4; Fetal hemoglobin quantitative trait locus 6 2 0 0 0 2
Chromosome 9p deletion syndrome 2 0 0 0 2
Craniosynostosis and dental anomalies 0 2 0 0 2
Familial aplasia of the vermis 2 0 0 0 2
Kabuki syndrome 1 0 0 2 0 2
2q24 microdeletion syndrome 1 0 0 0 1
5q35 microduplication syndrome 1 0 0 0 1
Beare-Stevenson cutis gyrata syndrome 0 1 0 0 1
CHARGE association 0 1 0 0 1
Cat eye syndrome; Chromosome 22q11.2 microduplication syndrome 1 0 0 0 1
Chromosome 1p32-p31 deletion syndrome 1 0 0 0 1
Chromosome 2q37 deletion syndrome 1 0 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 0 0 1
Cranioectodermal dysplasia 1 0 1 0 0 1
Craniosynostosis 4 1 0 0 0 1
Craniosynostosis 6 0 1 0 0 1
Crouzon syndrome-acanthosis nigricans syndrome 1 0 0 0 1
Deficiency of alpha-mannosidase 0 1 0 0 1
Deletion 6q16 q21 1 0 0 0 1
Diamond-Blackfan anemia 6 1 0 0 0 1
Distal 17p13.3 microdeletion syndrome 1 0 0 0 1
FG syndrome 1 0 1 0 0 1
Floating-Harbor syndrome 1 0 0 0 1
Generalized-onset seizure 0 0 1 0 1
Genitopatellar syndrome 1 0 0 0 1
Hypotrichosis 8 1 0 0 0 1
Kleefstra syndrome 1 1 0 0 0 1
Malan overgrowth syndrome 0 1 0 0 1
Mitochondrial DNA depletion syndrome 13 0 1 0 0 1
Muenke syndrome 1 0 0 0 1
Oculocerebrofacial syndrome, Kaufman type 1 0 0 0 1
Pfeiffer syndrome 1 0 0 0 1
Retinal cone dystrophy 3A 1 0 0 0 1
Rhizomelic chondrodysplasia punctata 1 0 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 0 0 1
Silver-Russell syndrome 1 1 0 0 0 1
Stormorken syndrome 1 0 0 0 1
TCF12-related craniosynostosis 0 1 0 0 1

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