ClinVar Miner

Variants from Rare Disease Group, Clinical Genetics,Karolinska Institutet

Location: Sweden — 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 total
60 36 90 4 6 194

Gene and significance breakdown #

Total genes and gene combinations: 161
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYNC2H1 7 4 10 0 0 21
WDR19 2 0 4 0 0 6
KIAA0753 3 1 0 0 0 4
​intergenic 1 0 0 0 2 3
COL4A1 1 0 2 0 0 3
COL4A2 0 1 2 0 0 3
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 1 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 1 0 0 0 2
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 1 0 0 0 2
B9D1 1 0 1 0 0 2
C2CD3 0 0 2 0 0 2
CYP26C1 0 0 0 2 0 2
ECEL1 0 0 2 0 0 2
EVC 1 1 0 0 0 2
LZTR1 0 0 2 0 0 2
PNPT1 0 2 0 0 0 2
SPTA1 2 0 0 0 0 2
AADACL3, AADACL4, C1orf158, DHRS3, MFN2, MIIP, PLOD1, PRAMEF1, PRAMEF11, PRAMEF12, TNFRSF1B, TNFRSF8, VPS13D 0 0 1 0 0 1
AAMP, ABCA12, ABCB6, ABI2, ACADL, ACSL3, ADAM23, ALS2, ANKAR, ANKRD44, ANKZF1, AOX1, AP1S3, ARPC2, ASIC4, ASNSD1, ATG9A, ATIC, BARD1, BCS1L, BMPR2, BOLL, BZW1, C2CD6, C2orf66, C2orf69, C2orf80, C2orf88, CARF, CASP10, CASP8, CATIP, CAVIN2, CCDC140, CCDC150, CCNYL1, CD28, CDK15, CDK5R2, CFAP65, CFLAR, CHPF, CLK1, CNOT9, CNPPD1, COL3A1, COL5A2, COQ10B, CPO, CPS1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTDSP1, CTLA4, CXCR1, CXCR2, CYP20A1, CYP27A1, DES, DIRC1, DIRC3, DNAH7, DNAJB2, DNPEP, DYTN, EEF1B2, EPHA4, ERBB4, FAM117B, FAM124B, FAM126B, FARSB, FASTKD2, FEV, FLACC1, FN1, FTCDNL1, FZD5, FZD7, GLB1L, GLS, GMPPA, GPBAR1, GPR1, GTF3C3, GULP1, HECW2, HIBCH, HSPD1, HSPE1, ICA1L, ICOS, IDH1, IGFBP2, IGFBP5, IHH, IKZF2, INHA, INO80D, INPP1, KANSL1L, KCNE4, KCTD18, KLF7, LANCL1, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFSD6, MIR26B, MIR375, MOB4, MOGAT1, MPP4, MREG, MRPL44, MSTN, MYL1, MYO1B, NAB1, NABP1, NBEAL1, NDUFB3, NDUFS1, NEMP2, NHEJ1, NIF3L1, NOP58, NRP2, OBSL1, ORC2, ORMDL1, OSGEPL1, PARD3B, PAX3, PCGEM1, PECR, PGAP1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PMS1, PNKD, PPIL3, PRKAG3, PTH2R, PTPRN, RAPH1, RESP18, RETREG2, RFTN2, RNF25, RPE, RPL37A, RUFY4, SATB2, SCG2, SERPINE2, SF3B1, SGO2, SGPP2, SLC11A1, SLC23A3, SLC39A10, SLC40A1, SLC4A3, SMARCAL1, SPAG16, SPATS2L, SPEG, STAT1, STAT4, STK11IP, STK16, STK17B, STK36, STRADB, SUMO1, TMBIM1, TMEFF2, TMEM169, TMEM198, TMEM237, TNP1, TNS1, TRAK2, TTLL4, TUBA4A, TYW5, UNC80, USP37, VIL1, VWC2L, WDFY1, WDR12, WDR75, WNT10A, WNT6, XRCC5, ZDBF2, ZFAND2B, ZNF142 1 0 0 0 0 1
AARD, ANXA13, ATAD2, C8orf76, CCN3, COL14A1, COLEC10, DEPTOR, DERL1, DSCC1, EIF3H, ENPP2, EXT1, FAM83A, FAM91A1, FBXO32, FER1L6, HAS2, KLHL38, LINC00536, LRATD2, MAL2, MED30, MRPL13, MTBP, MTSS1, MYC, NDUFB9, NSMCE2, PCAT1, POU5F1B, PVT1, RAD21, RNF139, SAMD12, SLC30A8, SNTB1, SQLE, TAF2, TATDN1, TBC1D31, TMEM65, TNFRSF11B, TRIB1, TRMT12, TRPS1, UTP23, WASHC5, WDYHV1, ZHX1, ZHX1-C8orf76, ZHX2, ZNF572 1 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 0 0 1 0 0 1
ABCA12, ATIC, BARD1, FN1 0 0 1 0 0 1
ABCC1, ABCC6, BMERB1, FOPNL, MARF1, MPV17L, MYH11, NDE1 0 0 1 0 0 1
ABCG1, BACE2, C2CD2, FAM3B, MX1, MX2, PLAC4, PRDM15, RIPK4, TMPRSS2, UMODL1, ZBTB21 0 0 1 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, POM121, RFC2, STX1A, TBL2, TMEM270, TRIM50, TRIM74, VPS37D 0 1 0 0 0 1
ABHD17A, ADAMTSL5, ADAT3, AMH, AP3D1, APC2, ATP8B3, BTBD2, C19orf25, C19orf71, CELF5, CSNK1G2, DAZAP1, DIRAS1, DOHH, DOT1L, FZR1, GADD45B, GIPC3, GNA11, GNA15, GNG7, HMG20B, IZUMO4, JSRP1, KLF16, LINGO3, LMNB2, LSM7, MBD3, MEX3D, MFSD12, MIR1909, MKNK2, MOB3A, NCLN, NFIC, OAZ1, ONECUT3, PCSK4, PEAK3, PLEKHJ1, PLK5, REEP6, REXO1, RPS15, S1PR4, SCAMP4, SF3A2, SGTA, SLC39A3, SMIM24, SPPL2B, TBXA2R, TCF3, THOP1, TIMM13, TLE2, TLE5, TLE6, TMPRSS9, UQCR11, ZNF554, ZNF555, ZNF556, ZNF77 0 0 1 0 0 1
ABLIM3, ACOT12, ACSL6, ACTBL2, ADAMTS12, ADAMTS19, ADAMTS6, ADGRV1, ADRB2, AFAP1L1, AFF4, AGGF1, AGXT2, ALDH7A1, AMACR, ANKDD1B, ANKH, ANKHD1, ANKHD1-EIF4EBP3, ANKRA2, ANKRD31, ANKRD34B, ANKRD55, ANXA2R, AP3B1, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL14EPL, ARL15, ARRDC3, ARSB, ARSK, ATG10, ATG12, ATP6AP1L, BASP1, BDP1, BHMT, BHMT2, BRD8, BRIX1, BTF3, C1QTNF3, C5orf15, C5orf17, C5orf22, C5orf24, C5orf30, C5orf34, C5orf46, C5orf51, C5orf63, C5orf64, C6, C7, C9, CAMK4, CAMLG, CAPSL, CARD6, CARTPT, CAST, CATSPER3, CCDC112, CCDC125, CCDC152, CCL28, CCNB1, CCNH, CCNI2, CCNO, CD14, CD180, CDC20B, CDC23, CDC25C, CDC42SE2, CDH10, CDH12, CDH18, CDH6, CDH9, CDK7, CDKL3, CDKN2AIPNL, CDO1, CENPH, CENPK, CEP120, CERT1, CETN3, CHD1, CHSY3, CKMT2, CMYA5, COMMD10, COX7C, CPLANE1, CRHBP, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTXN3, CWC27, CXCL14, CXXC5, CYSTM1, DAB2, DCANP1, DCP2, DDX4, DDX46, DELE1, DEPDC1B, DHFR, DHX29, DIAPH1, DIMT1, DMGDH, DMXL1, DNAJC18, DNAJC21, DND1, DPYSL3, DROSHA, DTWD2, ECSCR, EDIL3, EFNA5, EGFLAM, EGR1, EIF4EBP3, ELL2, ELOVL7, EMB, ENC1, EPB41L4A, ERAP1, ERAP2, ERBIN, ERCC8, ESM1, ETF1, F2R, F2RL1, F2RL2, FAM13B, FAM151B, FAM169A, FAM170A, FAM172A, FAM174A, FAM53C, FAM81B, FBN2, FBXL17, FBXL7, FBXO38, FBXO4, FCHO2, FCHSD1, FEM1C, FER, FGF1, FGF10, FNIP1, FOXD1, FST, FSTL4, FTMT, FYB1, GAPT, GCNT4, GDF9, GDNF, GFM2, GFRA3, GHR, GIN1, GLRX, GNPDA1, GOLPH3, GPBP1, GPR150, GPR151, GPX8, GRAMD2B, GRPEL2, GRXCR2, GTF2H2, GTF2H2C, GZMA, GZMK, HAPLN1, HARS1, HARS2, HBEGF, HCN1, HDAC3, HEXB, HINT1, HMGCR, HMGCS1, HMGXB3, HMHB1, HNRNPA0, HOMER1, HSD17B4, HSPA4, HSPA9, HSPB3, HTR1A, HTR4, IGIP, IK, IL13, IL17B, IL3, IL31RA, IL4, IL5, IL6ST, IL7R, IL9, IPO11, IQGAP2, IRF1, ISL1, ISOC1, ITGA1, ITGA2, JADE2, JAKMIP2, JMY, KCNN2, KCTD16, KDM3B, KIAA0825, KIF20A, KIF2A, KIF3A, KLHL3, LARS1, LEAP2, LECT2, LHFPL2, LIFR, LIX1, LMBRD2, LMNB1, LNPEP, LOX, LRRC70, LRRTM2, LUCAT1, LVRN, LYRM7, LYSMD3, MACROH2A1, MAN2A1, MAP1B, MAP3K1, MARCHF11, MARCHF3, MARVELD2, MAST4, MATR3, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MEF2C, MEGF10, MIER3, MINAR2, MIR143, MIR145, MIR378A, MIR449A, MIR449B, MIR9-2, MOCS2, MROH2B, MRPS27, MRPS30, MRPS36, MSH3, MTMR12, MTREX, MTRNR2L2, MTX3, MYO10, MYOT, MZB1, NADK2, NAIP, NCRUPAR, NDFIP1, NDUFA2, NDUFAF2, NDUFS4, NEUROG1, NIPBL, NLN, NME5, NNT, NPR3, NR2F1, NR3C1, NREP, NRG2, NSA2, NUDT12, NUP155, OCLN, OSMR, OTP, OTULIN, OXCT1, P4HA2, PAIP1, PAIP2, PAM, PARP8, PART1, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCSK1, PCYOX1L, PDE4D, PDE6A, PDE8B, PDGFRB, PDLIM4, PDZD2, PELO, PFDN1, PGGT1B, PHAX, PIK3R1, PITX1, PJA2, PKD2L2, PLAC8L1, PLCXD3, PLK2, PLPP1, POC5, POLK, POLR3G, POU4F3, POU5F2, PPARGC1B, PPIC, PPIP5K2, PPP2CA, PPP2R2B, PPWD1, PRDM6, PRDM9, PRELID2, PRKAA1, PRLR, PROB1, PRR16, PRRC1, PSD2, PTCD2, PTGER4, PURA, RAB3C, RAD1, RAD17, RAD50, RAI14, RANBP3L, RAPGEF6, RASA1, RASGRF2, RBM27, REEP2, REEP5, RELL2, RETREG1, RFESD, RGMB, RGS7BP, RHOBTB3, RICTOR, RIOK2, RNF14, RNF180, RPL37, RPS23, RXFP3, S100Z, SAR1B, SCAMP1, SCARNA18, SCGB3A2, SEC24A, SELENOP, SEMA6A, SEPTIN8, SERF1A, SERF1B, SERINC5, SETD9, SGTB, SH3RF2, SH3TC2, SHISAL2B, SHROOM1, SIL1, SKP1, SKP2, SLC12A2, SLC1A3, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC30A5, SLC35A4, SLC38A9, SLC45A2, SLC4A9, SLCO4C1, SLCO6A1, SLF1, SMAD5, SMIM15, SMN1, SMN2, SNCAIP, SNHG4, SNX18, SNX2, SNX24, SOWAHA, SPATA24, SPATA9, SPEF2, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SPZ1, SRA1, SREK1, SREK1IP1, SRFBP1, SRP19, SSBP2, ST8SIA4, STARD4, STK32A, SUB1, SV2C, TAF7, TAF9, TARS1, TBCA, TCERG1, TCF7, TENT2, TEX43, TGFBI, THBS4, TICAM2, TIFAB, TIGD6, TMCO6, TMED7, TMED7-TICAM2, TMEM161B, TMEM167A, TMEM171, TMEM173, TMEM174, TMEM232, TMEM267, TNFAIP8, TNPO1, TRAPPC13, TRIM23, TRIM36, TRPC7, TSLP, TSSK1B, TTC23L, TTC33, TTC37, TXNDC15, UBE2B, UBE2D2, UGT3A1, UGT3A2, UQCRQ, UTP15, VCAN, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR41, WDR55, WDR70, WNT8A, XRCC4, YIPF5, YTHDC2, ZBED3, ZCCHC10, ZCCHC9, ZFR, ZFYVE16, ZMAT2, ZNF131, ZNF366, ZNF474, ZNF608, ZNF622, ZSWIM6 0 0 1 0 0 1
ACADL, CPS1, KANSL1L, LANCL1, MAP2, MYL1, RPE, UNC80 0 0 1 0 0 1
ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CA6, CALML6, CAMTA1, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ENO1, ERRFI1, ESPN, FAAP20, FNDC10, GABRD, GNB1, GPR153, GPR157, H6PD, HES2, HES3, HES4, HES5, ICMT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR34A, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, NOL9, NPHP4, OR4F16, PANK4, PARK7, PER3, PEX10, PHF13, PIK3CD, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RERE, RNF207, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC25A33, SLC2A5, SLC2A7, SLC35E2A, SLC35E2B, SLC45A1, SMIM1, SPSB1, SSU72, TAS1R1, TAS1R3, THAP3, TMEM201, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF25, TNFRSF4, TNFRSF9, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, UTS2, VAMP3, VWA1, WRAP73, ZBTB48 1 0 0 0 0 1
ACBD7, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ANKRD16, ARL5B, ASB13, ATP5F1C, BEND7, C1QL3, CACNB2, CALML3, CALML5, CAMK1D, CCDC3, CDC123, CDNF, CELF2, CUBN, DCLRE1C, DHTKD1, ECHDC3, FAM107B, FAM171A1, FBH1, FRMD4A, GATA3, GDI2, HACD1, HSPA14, IL15RA, IL2RA, ITGA8, ITIH2, ITIH5, KIN, MCM10, MEIG1, MINDY3, NET1, NMT2, NSUN6, NUDT5, OLAH, OPTN, PFKFB3, PHYH, PRKCQ, PROSER2, PRPF18, PTER, RBM17, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SLC39A12, ST8SIA6, STAM, SUV39H2, TAF3, TASOR2, TRDMT1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, VIM 1 0 0 0 0 1
ACE2, ACOT9, ADGRG2, AMELX, ANOS1, AP1S2, APOO, ARHGAP6, ARSD, ARSE, ARSF, ARSH, ARX, ASB11, ASB9, ATP6AP2, ATXN3L, BCLAF3, BCOR, BEND2, BMX, CA5B, CASK, CBLL2, CDK16, CDKL5, CFAP47, CHST7, CLCN4, CLTRN, CNKSR2, CTPS2, CXorf21, CXorf22, CXorf30, CXorf38, CXorf58, CYBB, DCAF8L1, DCAF8L2, DDX3X, DDX53, DIPK2B, DMD, DUSP21, DYNLT3, EFHC2, EGFL6, EIF1AX, EIF2S3, FAM47A, FAM47B, FAM47C, FAM9A, FAM9B, FAM9C, FANCB, FRMPD4, FTHL17, FTHL18, FUNDC1, GEMIN8, GK, GLRA2, GPM6B, GPR143, GPR34, GPR82, GRPR, GYG2, H2AP, HCCS, IL1RAPL1, INE1, INE2, JADE3, KDM6A, KLHL15, KLHL34, KRBOX4, LANCL3, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAOA, MAOB, MAP3K15, MAP7D2, MBTPS2, MED14, MID1, MID1IP1, MIR221, MIR222, MOSPD2, MPC1L, MSL3, MXRA5, NDP, NDUFB11, NHS, NLGN4X, NR0B1, NYX, OFD1, OTC, PCYT1B, PDHA1, PDK3, PHEX, PHKA2, PIGA, PIR, PNPLA4, POLA1, PPEF1, PRDX4, PRKX, PRPS2, PRRG1, PTCHD1, PUDP, RAB9A, RAI2, RBBP7, RBM10, REPS2, RGN, RP2, RPGR, RPS6KA3, RS1, S100G, SAT1, SCML1, SCML2, SH3KBP1, SHROOM2, SLC9A7, SMPX, SMS, SRPX, STS, SUPT20HL1, SUPT20HL2, SYAP1, SYTL5, TAB3, TBL1X, TCEANC, TLR7, TLR8, TMEM47, TMSB4X, TRAPPC2, TSPAN7, TXLNG, UBA1, USP11, USP9X, VCX, VCX2, VCX3A, VCX3B, VEGFD, WWC3, XG, XK, YY2, ZFX, ZNF674, ZRSR2 1 0 0 0 0 1
ACOX1 0 1 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 0 0 1 0 0 1
ADA2, ARVCF, ATP6V1E1, BCL2L13, BID, C22orf39, CCT8L2, CDC45, CECR2, CECR3, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR8, ESS2, GAB4, GNB1L, GP1BB, GSC2, HDHD5, HIRA, IL17RA, MICAL3, MRPL40, PEX26, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, SLC25A18, TANGO2, TBX1, TMEM121B, TRMT2A, TSSK2, TUBA8, TXNRD2, UFD1, USP18, XKR3, ZDHHC8 0 1 0 0 0 1
ADAD1, ANKRD50, ANXA5, BBS12, BBS7, C4orf3, CCNA2, EXOSC9, FABP2, FGF2, IL2, IL21, KIAA1109, MAD2L1, METTL14, MYOZ2, NDNF, NDST3, NUDT6, PDE5A, PRDM5, PRSS12, QRFPR, SEC24D, SNHG8, SPATA5, SPRY1, SYNPO2, TMEM155, TNIP3, TRAM1L1, TRPC3, USP53 0 1 0 0 0 1
ADAM29, AGA, ASB5, CEP44, FBXO8, GALNT7, GALNTL6, GLRA3, GPM6A, HAND2, HMGB2, HPGD, NEIL3, SAP30, SCRG1, SPATA4, SPCS3, VEGFC, WDR17 1 0 0 0 0 1
ADAMTS1, ADAMTS5, APP, ATP5PF, BTG3, C21orf91, CHODL, CXADR, CYYR1, GABPA, HSPA13, JAM2, LIPI, MIR125B2, MIR155, MIR99A, MIRLET7C, MRPL39, NCAM2, NRIP1, POTED, RBM11, SAMSN1, TMPRSS15, USP25 0 1 0 0 0 1
ADAMTS15, ADAMTS8 0 0 1 0 0 1
ADARB1, AGPAT3, AIRE, CFAP410, COL18A1, CSTB, DNMT3L, FAM207A, GATD3A, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, PDXK, PFKL, POFUT2, PTTG1IP, PWP2, RRP1, RRP1B, SIK1, SUMO3, TRAPPC10, TRPM2, TSPEAR, UBE2G2 0 0 1 0 0 1
ADCYAP1, CETN1, CLUL1, COLEC12, ENOSF1, THOC1, TYMS, TYMSOS, USP14, YES1 1 0 0 0 0 1
ADGRL3 0 0 1 0 0 1
ADGRL3, CENPC, EPHA5, GNRHR, STAP1, TECRL, TMPRSS11D, UBA6 0 1 0 0 0 1
ADNP2, ATP9B, C18orf63, CBLN2, CCDC102B, CD226, CDH19, CDH7, CNDP1, CNDP2, CTDP1, CYB5A, DIPK1C, DOK6, DSEL, FBXO15, GALR1, HSBP1L1, KCNG2, LINC00683, LINC01879, MBP, NETO1, NFATC1, PARD6G, RBFA, RTTN, SALL3, SLC66A2, SMIM21, SOCS6, TIMM21, TMX3, TSHZ1, TXNL4A, ZADH2, ZNF236, ZNF407, ZNF516 1 0 0 0 0 1
ADNP2, ATP9B, C18orf63, CBLN2, CCDC102B, CD226, CNDP1, CNDP2, CTDP1, CYB5A, DIPK1C, DOK6, DSEL, FBXO15, GALR1, HSBP1L1, KCNG2, LINC00683, LINC01879, MBP, NETO1, NFATC1, PARD6G, RBFA, RTTN, SALL3, SLC66A2, SMIM21, SOCS6, TIMM21, TMX3, TSHZ1, TXNL4A, ZADH2, ZNF236, ZNF407, ZNF516 1 0 0 0 0 1
AGA, NEIL3 1 0 0 0 0 1
AKT3, CEP170, CHML, CHRM3, EXO1, FH, FMN2, GREM2, KMO, MAP1LC3C, OPN3, PLD5, RGS7, SDCCAG8, WDR64 0 1 0 0 0 1
ALDH1A3, ASB7, CERS3, LINS1, LRRK1 0 0 1 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, DOC2A, HIRIP3, INO80E, KCTD13, KIF22, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 0 1 0 0 0 1
ALMS1 1 0 0 0 0 1
AMER3, CFC1, CFC1B, GPR148, POTEI, POTEJ 0 0 1 0 0 1
AMH, APBA3, ATCAY, C19orf71, CACTIN, CELF5, DAPK3, DIRAS1, DOHH, DOT1L, EEF2, FZR1, GADD45B, GIPC3, GNA11, GNA15, GNG7, HMG20B, JSRP1, LINGO3, LMNB2, LSM7, MATK, MFSD12, MRPL54, NCLN, NFIC, NMRK2, OAZ1, PEAK3, PIP5K1C, PLEKHJ1, RAX2, S1PR4, SF3A2, SGTA, SLC39A3, SMIM24, SPPL2B, TBXA2R, THOP1, TIMM13, TJP3, TLE2, TLE5, TLE6, TMPRSS9, ZFR2, ZNF554, ZNF555, ZNF556, ZNF77 0 0 1 0 0 1
AMHR2, ATF7, ATP5MC2, CALCOCO1, CBX5, COPZ1, HNRNPA1, HOTAIR, HOXC10, HOXC11, HOXC12, HOXC13, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, MAP3K12, MIR148B, MIR196A2, NFE2, NPFF, PCBP2, PRR13, SMUG1, SP1, TARBP2 1 0 0 0 0 1
ANKRD11 0 1 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, ITGA10, LIX1L, NBPF11, NBPF12, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TRN-GTT9-1, TRQ-CTG3-1 0 0 1 0 0 1
ANKRD45, ATP1B1, BLZF1, C1orf105, C1orf112, CACYBP, CCDC181, CENPL, DARS2, DNM3, DNM3OS, EEF1AKNMT, F5, FASLG, FMO1, FMO2, FMO3, FMO4, GAS5, GORAB, GPR52, KIAA0040, KIFAP3, KLHL20, METTL11B, METTL18, MIR199A2, MIR214, MIR3120, MROH9, MRPS14, MYOC, NME7, PIGC, PRDX6, PRRC2C, PRRX1, RABGAP1L, RC3H1, SCYL3, SELE, SELL, SELP, SERPINC1, SLC19A2, SLC9C2, SUCO, TNFSF18, TNFSF4, TNN, TNR, VAMP4, ZBTB37 1 0 0 0 0 1
ANKRD45, CENPL, DARS2, GAS5, KLHL20, PRDX6, RC3H1, SERPINC1, SLC9C2, ZBTB37 0 0 1 0 0 1
ANXA11, PLAC9, SFTPD, TMEM254 0 0 1 0 0 1
ARHGAP11A, ARHGAP11B, CHRFAM7A, CHRNA7, FAN1, GOLGA8H, GOLGA8N, GOLGA8O, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 1
ARHGEF33, C2orf91, CDKL4, DHX57, EML4, MAP4K3, MORN2, PKDCC, SLC8A1, SOS1, SOS1-IT1, THUMPD2, TMEM178A 0 1 0 0 0 1
ARL14, B3GALNT1, C3orf80, IFT80, IL12A, IQCJ, IQCJ-SCHIP1, KPNA4, PPM1L, SCHIP1, SMC4, TRIM59 0 0 1 0 0 1
ARL15, CCNO, CDC20B, DHX29, ESM1, GPX8, GZMA, GZMK, HSPB3, MCIDAS, MIR449A, MIR449B, SNX18 0 0 1 0 0 1
ARL8B, BHLHE40, CAV3, CHL1, CNTN4, CNTN6, CRBN, EDEM1, EGOT, GRM7, IL5RA, ITPR1, LINC00312, LMCD1, LRRN1, OXTR, RAD18, SETMAR, SRGAP3, SSUH2, SUMF1, TRNT1 0 1 0 0 0 1
ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, BRK1, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1, EMC3, FANCD2, FANCD2OS, GHRL, GHRLOS, HRH1, IL17RC, IL17RE, IRAK2, JAGN1, LHFPL4, MTMR14, OGG1, PRRT3, RPUSD3, SEC13, SETD5, SLC6A1, SLC6A11, TADA3, TAMM41, TATDN2, TTLL3, VGLL4, VHL 0 0 1 0 0 1
ASIC2, C17orf102, CCL1, CCL11, CCL13, CCL2, CCL7, CCL8, CCT6B, FNDC8, LIG3, NLE1, RAD51D, RFFL, SLC35G3, TMEM132E, UNC45B, ZNF830 0 0 1 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 0 0 0 1
ATP12A, RNF17 0 0 1 0 0 1
ATXN7, LOC108660406 1 0 0 0 0 1
BBS9 0 0 1 0 0 1
BLK, C8orf74, CLDN23, CTSB, DEFB134, DEFB135, DEFB136, ERI1, FAM167A, FDFT1, GATA4, MFHAS1, MIR124-1, MSRA, MTMR9, NEIL2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, TNKS, XKR6, ZNF705D 0 1 0 0 0 1
BMT2, DOCK4, FOXP2, GPR85, IFRD1, LSMEM1, PPP1R3A, TMEM168, ZNF277 0 0 1 0 0 1
BRCA2 1 0 0 0 0 1
BTRC, DPCD, FBXW4, LBX1, POLL 0 0 1 0 0 1
C12orf65 1 0 0 0 0 1
C17orf97, GEMIN4, GLOD4, MRM3, RFLNB, RPH3AL, TLCD3A, VPS53 0 0 1 0 0 1
C20orf96, CSNK2A1, DEFB128, DEFB129, DEFB132, NRSN2, RBCK1, SCRT2, SOX12, SRXN1, TBC1D20, TCF15, TRIB3, ZCCHC3 0 0 1 0 0 1
CALCRL, FAM171B, FSIP2, ITGAV, TFPI, ZC3H15, ZSWIM2 1 0 0 0 0 1
CAMTA1 1 0 0 0 0 1
CCDC39 0 0 1 0 0 1
CDK12 0 0 1 0 0 1
CHM 1 0 0 0 0 1
CHORDC1, NAALAD2, TRIM49, TRIM49C, TRIM49D1, TRIM49D2, TRIM64, TRIM64B, UBTFL1 0 0 1 0 0 1
CHRM3, FMN2, GREM2, RGS7 0 0 1 0 0 1
CLN5 1 0 0 0 0 1
COBLL1, SCN3A, SLC38A11 0 0 1 0 0 1
COL9A3, DPH3P1, MRGBP, NTSR1, OGFR, TCFL5 0 0 1 0 0 1
COPS7B, DIS3L2, NPPC 0 0 1 0 0 1
CPLANE1 0 0 0 0 1 1
CPLANE1, NUP155, WDR70 0 0 0 1 0 1
CSRNP3, GALNT3, SCN2A, SCN3A 1 0 0 0 0 1
CUL3, DOCK10, NYAP2 1 0 0 0 0 1
CYP26A1 0 0 1 0 0 1
DIPK2B, DUSP21, FUNDC1, KDM6A 1 0 0 0 0 1
DMD 0 1 0 0 0 1
DMRTC1, DMRTC1B, HDAC8, PHKA1 1 0 0 0 0 1
DNAH6 0 0 1 0 0 1
DYNC1H1, HSP90AA1, PPP2R5C 0 0 1 0 0 1
EMILIN2, LPIN2, MYL12A, MYL12B, MYOM1 0 0 1 0 0 1
ERBB4, IKZF2, SPAG16 0 0 1 0 0 1
EVC2 0 0 1 0 0 1
FA2H, GLG1, MLKL, RFWD3, WDR59, ZNRF1 0 0 1 0 0 1
FANCA 0 0 1 0 0 1
FGFR1 1 0 0 0 0 1
FLCN 1 0 0 0 0 1
FRG1, FRG2 1 0 0 0 0 1
GALNT14 0 0 1 0 0 1
GDF9 0 0 1 0 0 1
GGCT, NOD1 0 0 1 0 0 1
GLDC 0 0 1 0 0 1
GOLPH3, PDZD2 0 0 0 0 1 1
GPR151, GRXCR2, LARS1, PLAC8L1, POU4F3, PPP2R2B, PRELID2, RBM27, SH3RF2, TCERG1 0 0 1 0 0 1
IFT122 0 0 1 0 0 1
IFT43 0 0 1 0 0 1
IFT81 1 0 0 0 0 1
ITPR1, SUMF1 0 0 1 0 0 1
KANK1 0 0 1 0 0 1
KIAA0586 0 1 0 0 0 1
KIF26B, SMYD3 0 0 1 0 0 1
KIF7 1 0 0 0 0 1
LAMA2 0 1 0 0 0 1
MATN3 0 1 0 0 0 1
MBD5 0 1 0 0 0 1
METTL16, MNT, SGSM2, SMG6, SRR, TSR1 0 0 1 0 0 1
MIR140, WWP2 1 0 0 0 0 1
MLH1 1 0 0 0 0 1
NBPF8, PPIAL4A, TRN-GTT11-1 0 0 1 0 0 1
NID1 0 0 1 0 0 1
NIPBL, SLC1A3 1 0 0 0 0 1
NKX2-1, SFTA3 0 1 0 0 0 1
NRXN1 0 0 1 0 0 1
NSD1 0 1 0 0 0 1
OPA1 0 0 1 0 0 1
OR11L1, OR14A16, OR14C36, OR1C1, OR2AK2, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T12, OR2T33, OR2T4, OR2T6, OR2T8, OR2W3, OR6F1, TRIM58 0 0 1 0 0 1
PAX6 0 1 0 0 0 1
PAX9, SLC25A21 0 0 1 0 0 1
PNPT1, SATB2 1 0 0 0 0 1
POLG 0 1 0 0 0 1
PRDM16 0 0 1 0 0 1
PROKR2 0 0 1 0 0 1
PTEN, ZIC2 0 1 0 0 0 1
RTTN 0 0 1 0 0 1
SCN1A 1 0 0 0 0 1
SERF1A 0 0 0 0 1 1
SLC9A1 0 0 1 0 0 1
SMARCA2 0 0 1 0 0 1
SMYD3 0 0 1 0 0 1
SOX5 1 0 0 0 0 1
SPG7 0 0 1 0 0 1
SPOCK1 0 0 1 0 0 1
SUMF1 0 0 1 0 0 1
TBCK 1 0 0 0 0 1
TRAF3IP1 0 0 1 0 0 1
TRIML1, TRIML2, ZFP42 0 0 1 0 0 1
TSHZ3 0 0 1 0 0 1
TTC21B 1 0 0 0 0 1
TUSC3 0 0 1 0 0 1
UBE3B 0 0 0 1 0 1
WDR35 0 0 1 0 0 1
WDR63 0 1 0 0 0 1
WDR70 0 0 0 0 1 1
ZIC2 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 42
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neurodevelopmental disorder 21 19 33 0 0 72
Jeune thoracic dystrophy 8 5 17 0 0 30
Optic nerve hypoplasia 2 1 7 3 0 13
Cerebellar ataxia, nonprogressive, with mental retardation 1 0 5 0 1 7
Chondroectodermal dysplasia 1 1 4 0 0 6
Growth abnormality 0 0 6 0 0 6
Intestinal malrotation 3 1 2 0 0 6
Epilepsy 3 0 2 0 0 4
not specified 0 0 0 0 4 4
Cranioectodermal dysplasia 1 0 2 0 0 3
Global developmental delay 1 0 0 1 1 3
Internal malformations 0 0 3 0 0 3
Jeune thoracic dystrophy; Joubert syndrome 3 0 0 0 0 3
Skeletal dysplasia 1 1 1 0 0 3
Trichorhinophalangeal dysplasia type I 1 0 2 0 0 3
Arthrogryposis multiplex congenita 0 0 2 0 0 2
Bladder exstrophy 0 0 2 0 0 2
Muscle dystrophy 0 2 0 0 0 2
Premature ovarian failure 0 0 2 0 0 2
Prenatal anemia 2 0 0 0 0 2
1q24q25 microdeletion syndrome 1 0 0 0 0 1
Abnormality of corpus callosum 0 1 0 0 0 1
Acrocallosal syndrome, Schinzel type 1 0 0 0 0 1
Alstrom syndrome 1 0 0 0 0 1
Arthrogryphosis 0 0 1 0 0 1
Barakat syndrome 1 0 0 0 0 1
Birt-Hogg-Dubé Syndrome 1 0 0 0 0 1
Choroideremia 1 0 0 0 0 1
Colon cancer 1 0 0 0 0 1
Encephalopathy 0 0 1 0 0 1
Hypogonadism with anosmia 1 0 0 0 0 1
Kidney Disease; Tooth agenesis 0 0 1 0 0 1
Meckel-Gruber syndrome 1 0 0 0 0 1
Microcephaly; Holoprosencephaly 0 1 0 0 0 1
Multiple epiphyseal dysplasia 5 0 1 0 0 0 1
Muscle weakness 0 1 0 0 0 1
Occipital encephalocele 0 1 0 0 0 1
Optic nerve hypoplasia, bilateral 0 1 0 0 0 1
Ovarian cancer; breast cancer 1 0 0 0 0 1
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 1 0 0 0 0 1
Spinocerebellar ataxia 7 1 0 0 0 0 1
Spondyloepiphyseal dysplasia MIR140 type Nishimura 1 0 0 0 0 1

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