ClinVar Miner

Variants from Geisinger Autism and Developmental Medicine Institute,Geisinger Health System

Location: United States — Primary collection method: provider interpretation
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
58 29 212 4 0 303

Gene and significance breakdown #

Total genes and gene combinations: 240
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
​intergenic 7 3 19 0 29
AUTS2 0 0 3 0 3
ASPM 0 1 1 0 2
BRCA2 2 0 0 0 2
CBS 0 0 2 0 2
CHD8 1 1 0 0 2
CNTN4, LOC107522028 0 0 2 0 2
COL11A2 0 0 2 0 2
DMD 2 0 0 0 2
EIF2B5 0 0 2 0 2
FLG 2 0 0 0 2
KIF14 0 0 2 0 2
KIF4A 0 0 2 0 2
LAMA2 0 0 2 0 2
LRPPRC 0 0 2 0 2
MEGF8 0 0 2 0 2
NDST1 0 0 2 0 2
NRXN1 1 1 0 0 2
NSUN2 0 0 2 0 2
OPA1 0 0 2 0 2
POLG 1 1 0 0 2
PRKN 0 1 1 0 2
RAD21 0 0 2 0 2
RBFOX1 0 0 2 0 2
RYR1 0 1 1 0 2
SCN2A 0 1 1 0 2
SGSH 2 0 0 0 2
SHANK2 0 0 2 0 2
SNTG2, TPO 0 0 2 0 2
TANC2 0 0 2 0 2
TBL1X 0 0 2 0 2
TCF4 0 1 1 0 2
TMEM70 1 0 1 0 2
VPS13D 0 0 2 0 2
ZNF521 0 0 2 0 2
AADAT, ANP32C, ANXA10, CBR4, CLCN3, CPE, DDX60, DDX60L, FAM218A, GALNTL6, HPF1, KLHL2, MARCHF1, MFAP3L, MSMO1, NEK1, PALLD, SH3RF1, SPOCK3, TLL1, TMA16, TMEM192, TRIM60, TRIM61 0 1 0 0 1
AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ACTC1, ADAL, ADAM10, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, AEN, AGBL1, AKAP13, ALDH1A2, ALDH1A3, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANP32A, ANPEP, ANXA2, AP3B2, AP3S2, AP4E1, APH1B, AQP9, AQR, ARHGAP11A, ARID3B, ARIH1, ARNT2, ARPIN, ARPIN-AP3S2, ARPP19, ARRDC4, ASB7, ATP8B4, AVEN, B2M, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BMF, BNC1, BNIP2, BTBD1, BUB1B, C15orf32, C15orf39, C15orf40, C15orf41, C15orf48, C15orf54, C15orf56, C15orf61, C15orf62, C15orf65, C2CD4A, C2CD4B, CA12, CALML4, CAPN3, CASC4, CATSPER2, CCDC32, CCDC33, CCDC9B, CCNB2, CCNDBP1, CCPG1, CD276, CDAN1, CELF6, CEMIP, CEP152, CERS3, CFAP161, CGNL1, CHAC1, CHD2, CHP1, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CHST14, CHSY1, CIAO2A, CIB1, CIB2, CILP, CKMT1A, CKMT1B, CLK3, CLN6, CLPX, COMMD4, COPS2, CORO2B, COX5A, CPEB1, CPLX3, CRABP1, CRTC3, CSK, CSNK1G1, CSPG4, CT62, CTDSPL2, CTSH, CTXN2, CYP11A1, CYP19A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DISP2, DLL4, DMXL2, DNAAF4, DNAJA4, DNAJC17, DPH6, DPP8, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EDC3, EFL1, EHD4, EID1, EIF2AK4, EIF3J, ELL3, EMC4, EMC7, EPB42, ETFA, EXD1, FAH, FAM169B, FAM174B, FAM214A, FAM219B, FAM227B, FAM81A, FAM98B, FAN1, FANCI, FBN1, FBXL22, FBXO22, FEM1B, FES, FGF7, FOXB1, FRMD5, FSD2, FSIP1, FURIN, GABPB1, GALK2, GANC, GATM, GCHFR, GCNT3, GDPGP1, GJD2, GLCE, GLDN, GNB5, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L3, GOLGA8A, GOLGA8B, GOLGA8N, GOLGA8O, GPR176, GRAMD2A, GREM1, GTF2A2, HACD3, HAPLN3, HAUS2, HCN4, HDC, HDDC3, HERC1, HEXA, HMG20A, HOMER2, HYKK, HYPK, ICE2, IDH2, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INO80, INSYN1, INTS14, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, ITPKA, IVD, JMJD7, KATNBL1, KBTBD13, KIF23, KIF7, KLF13, KLHL25, KNL1, KNSTRN, LACTB, LARP6, LCMT2, LCTL, LDHAL6B, LEO1, LINC00928, LINC02694, LINGO1, LINS1, LIPC, LMAN1L, LOC100128979, LOXL1, LPCAT4, LRRC28, LRRC49, LRRC57, LRRK1, LTK, LYSMD2, LYSMD4, MAN2A2, MAN2C1, MAP1A, MAP2K1, MAP2K5, MAPK6, MAPKBP1, MCTP2, MEF2A, MEGF11, MEIS2, MESD, MESP1, MESP2, MEX3B, MFAP1, MFGE8, MGA, MINAR1, MINDY2, MIR184, MIR211, MIR9-3, MNS1, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MTMR10, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, MYZAP, NDUFAF1, NEDD4, NEIL1, NEO1, NGRN, NMB, NOP10, NOX5, NPTN, NR2E3, NR2F2, NRG4, NTRK3, NUSAP1, NUTM1, OAZ2, ODF3L1, OIP5, ONECUT1, OR4F6, OTUD7A, PAK6, PAQR5, PARP16, PARP6, PATL2, PCLAF, PCSK6, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGBD4, PGPEP1L, PHGR1, PIAS1, PIF1, PIGB, PKM, PLA2G4B, PLA2G4D, PLA2G4E, PLA2G4F, PLCB2, PLEKHO2, PLIN1, PML, POLG, POLR2M, PPCDC, PPIB, PPIP5K1, PPP1R14D, PRC1, PRTG, PSMA4, PSTPIP1, PTPN9, PYGO1, RAB11A, RAB27A, RAB8B, RAD51, RAMAC, RASGRF1, RASGRP1, RASL12, RBPMS2, RCCD1, RCN2, REC114, RFX7, RGMA, RHCG, RHOV, RLBP1, RMDN3, RNF111, RNU5A-1, RNU6-1, RORA, RPAP1, RPL4, RPLP1, RPP25, RPS17, RPS27L, RPUSD2, RSL24D1, RTF1, RYR3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SCG3, SCG5, SEC11A, SECISBP2L, SELENOS, SEMA4B, SEMA6D, SEMA7A, SENP8, SERF2, SERINC4, SH2D7, SH3GL3, SHC4, SHF, SIN3A, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLCO3A1, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNRPA1, SNUPN, SNX1, SNX22, SNX33, SORD, SPATA5L1, SPATA8, SPESP1, SPG11, SPG21, SPINT1, SPPL2A, SPRED1, SPTBN5, SQOR, SRP14, ST20, ST20-MTHFS, ST8SIA2, STARD5, STARD9, STOML1, STRA6, STRC, SV2B, SYNM, TARSL2, TBC1D21, TBC1D2B, TCF12, TERB2, TEX9, TGM5, TGM7, THAP10, THBS1, THSD4, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMCO5A, TMED3, TMEM202, TMEM266, TMEM62, TMEM87A, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TPM1, TRIM69, TRIP4, TRPM1, TRPM7, TSPAN3, TTBK2, TTC23, TUBGCP4, TYRO3, UACA, UBAP1L, UBE2Q2, UBL7, UBR1, ULK3, UNC13C, UNC45A, USP3, USP50, USP8, VPS13C, VPS18, VPS33B, VPS39, WDR61, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZFYVE19, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZNF774, ZSCAN2, ZSCAN29, ZWILCH 1 0 0 0 1
AAK1, ACTG2, ACTR2, ADD2, AFTPH, ALMS1, ANKRD53, ANTXR1, ANXA4, APLF, ARHGAP25, ASPRV1, ATP6V1B1, AUP1, BMP10, BOLA3, C1D, C2orf42, C2orf78, C2orf81, CAPG, CCDC142, CCT7, CD207, CEP68, CLEC4F, CNRIP1, CTNNA2, CYP26B1, DCTN1, DGUOK, DNAH6, DOK1, DQX1, DUSP11, DYSF, EGR4, ELMOD3, EMX1, ETAA1, EVA1A, EXOC6B, FAM136A, FBXO41, FBXO48, FIGLA, GCFC2, GFPT1, GKN1, GKN2, GMCL1, HK2, HTRA2, INO80B, KCMF1, LBX2, LGALSL, LINC01873, LOXL3, LRRTM1, LRRTM4, M1AP, MCEE, MDH1, MEIS1, MOB1A, MOGS, MPHOSPH10, MRPL19, MRPL53, MTHFD2, MXD1, NAGK, NAT8, NAT8B, NFU1, NOTO, PAIP2B, PCBP1, PCGF1, PCYOX1, PELI1, PLEK, PNO1, POLE4, PPP3R1, PRADC1, PROKR1, RAB11FIP5, RAB1A, REG1A, REG1B, REG3A, REG3G, RETSAT, RTKN, SEMA4F, SERTAD2, SFXN5, SH2D6, SLC1A4, SLC4A5, SMYD5, SNRNP27, SNRPG, SPR, SPRED2, STAMBP, SUCLG1, TACR1, TCF7L1, TET3, TEX261, TGFA, TGOLN2, TIA1, TLX2, TMSB10, TPRKB, TRABD2A, TTC31, UGP2, VAX2, VPS54, WBP1, WDPCP, WDR54, WDR92, ZNF638 1 0 0 0 1
ABCA3, BRICD5, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, MIR1225, MLST8, NTN3, PGP, PKD1, RAB26, RNPS1, TBC1D24, TEDC2, TRAF7, TSC2 0 0 1 0 1
ABCB1, ABCB4, ADAM22, AKAP9, ANKIB1, BET1, CACNA2D1, CALCR, CASTOR2, CCDC146, CCL24, CCL26, CD36, CDK14, CDK6, CFAP69, CLDN12, CLIP2, CROT, CYP51A1, DBF4, DMTF1, DTX2, EIF4H, ERVW-1, FAM133B, FGL2, FZD1, GATAD1, GNAI1, GNAT3, GNG11, GNGT1, GRM3, GSAP, GTF2I, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, HEPACAM2, HGF, HIP1, HSPB1, KIAA1324L, KRIT1, LAT2, LINC00972, LRRD1, MAGI2, MDH2, MIR489, MIR590, MTERF1, NCF1, PCLO, PEX1, PHTF2, POM121C, POMZP3, POR, PTPN12, RBM48, RCC1L, RFC2, RHBDD2, RSBN1L, RUNDC3B, SAMD9, SAMD9L, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SLC25A40, SPDYE5, SRI, SRRM3, SSC4D, STEAP1, STEAP2, STEAP4, STYXL1, TEX47, TFPI2, TMEM120A, TMEM243, TMEM60, TRIM73, VPS50, YWHAG, ZNF804B, ZP3 0 0 1 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, DUSP9, HCFC1, IDH3G, L1CAM, NAA10, PDZD4, PLXNB3, PNCK, RENBP, SLC6A8, SRPK3, SSR4 0 0 1 0 1
ABHD12, ACSS1, APMAP, ASXL1, BANF2, BCL2L1, BPIFB2, C20orf203, C20orf78, CCM2L, CD93, CFAP61, COMMD7, COX4I2, CRNKL1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTL1, DEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB123, DEFB124, DNMT3B, DTD1, DUSP15, DZANK1, EFCAB8, ENTPD6, FOXA2, FOXS1, GGTLC1, GINS1, GZF1, HCK, HM13, ID1, INSM1, KAT14, KIF3B, KIZ, LINC01597, MAPRE1, MGME1, MYLK2, NAA20, NANP, NAPB, NINL, NKX2-2, NKX2-4, NOL4L, NXT1, OVOL2, PAX1, PDRG1, PET117, PLAGL2, POFUT1, POLR3F, PYGB, RALGAPA2, RBBP9, REM1, RIN2, SCP2D1, SEC23B, SLC24A3, SNX5, SSTR4, SUN5, SYNDIG1, THBD, TM9SF4, TPX2, TTLL9, VSX1, XKR7, XRN2, ZNF133, ZNF337 1 0 0 0 1
ABHD18, C4orf33, CLGN, ELF2, HSPA4L, INTU, JADE1, LARP1B, MAML3, MFSD8, MGARP, MGST2, NAA15, NDUFC1, NOCT, PABPC4L, PCDH10, PCDH18, PGRMC2, PLK4, RAB33B, SCLT1, SCOC, SETD7, SLC25A31, SLC7A11 1 0 0 0 1
ABHD8, ANKLE1, ANO8, BABAM1, BST2, CPAMD8, DDA1, F2RL3, GTPBP3, HAUS8, MRPL34, MVB12A, MYO9B, NR2F6, OCEL1, PLVAP, USE1, USHBP1 0 0 1 0 1
ABR, BHLHA9, TIMM22, TRARG1 0 0 1 0 1
ACAP1, EIF5A, GPS2, NEURL4, SLC2A4, YBX2 0 0 1 0 1
ACOXL, BCL2L11, BUB1, CCDC138, EDAR, GCC2, LIMS1, LIMS3, LIMS4, MALL, NPHP1, RANBP2, RGPD4, RGPD5, RGPD6, SEPTIN10, SLC5A7, SOWAHC, ST6GAL2, SULT1C2, SULT1C3, SULT1C4 0 1 0 0 1
ACSF3, ANKRD11, APRT, BANP, C16orf95, CA5A, CBFA2T3, CDH15, CDT1, CTU2, CYBA, FBXO31, GALNS, IL17C, JPH3, KLHDC4, LOC101928737, MAP1LC3B, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SLC7A5, SNAI3, TRAPPC2L, ZC3H18, ZCCHC14, ZFPM1, ZNF469, ZNF778 1 0 0 0 1
ACSL1, AGA, ANKRD37, ASB5, C4orf47, CASP3, CCDC110, CDKN2AIP, CENPU, CFAP97, CLDN22, CLDN24, CYP4V2, DCTD, ENPP6, F11, FAM149A, FAT1, GPM6A, HELT, ING2, IRF2, KLKB1, LRP2BP, MTNR1A, NEIL3, PDLIM3, PRIMPOL, RWDD4, SLC25A4, SNX25, SORBS2, SPATA4, SPCS3, STOX2, TENM3, TLR3, TRAPPC11, TRIML1, TRIML2, UFSP2, VEGFC, WDR17, WWC2, ZFP42 1 0 0 0 1
ADARB1, C21orf58, COL18A1, COL6A1, COL6A2, DIP2A, FAM207A, FTCD, LINC00163, LINC00315, LINC00334, LSS, MCM3AP, PCBP3, PCNT, POFUT2, PRMT2, S100B, SLC19A1, SPATC1L, YBEY 1 0 0 0 1
ADARB2, WDR37 0 0 1 0 1
ADCYAP1, AKAIN1, ARHGAP28, CETN1, CLUL1, COLEC12, DLGAP1, EMILIN2, ENOSF1, EPB41L3, L3MBTL4, LAMA1, LPIN2, LRRC30, METTL4, MYL12A, MYL12B, MYOM1, NDC80, PTPRM, RAB12, SMCHD1, TGIF1, TMEM200C, TYMS, TYMSOS, YES1, ZBTB14 1 0 0 0 1
ADNP, ARFGEF2, ATP9A, B4GALT5, BCAS4, CEBPB, CSE1L, DDX27, DPM1, KCNB1, KCNG1, MOCS3, NFATC2, PARD6B, PREX1, PTGIS, PTPN1, RIPOR3, RNF114, SALL4, SLC9A8, SNAI1, SPATA2, STAU1, TMEM189, TMEM189-UBE2V1, TRERNA1, UBE2V1, ZNFX1 0 0 1 0 1
ADPGK, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COX5A, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6B, GOLGA6C, HCN4, INSYN1, ISLR, ISLR2, LMAN1L, LOXL1, MPI, NEO1, NPTN, PML, PPCDC, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, ULK3 1 0 0 0 1
ADTRP, ATXN1, BLOC1S5, BMP6, BPHL, C6orf201, C6orf52, CAGE1, CAP2, CD83, CDKAL1, CDYL, DEK, DSP, DTNBP1, DUSP22, E2F3, ECI2, EDN1, EEF1E1, ELOVL2, ERVFRD-1, EXOC2, F13A1, FAM217A, FAM50B, FAM8A1, FARS2, FOXC1, FOXF2, FOXQ1, GCM2, GCNT2, GFOD1, GMDS, GMPR, HDGFL1, HIVEP1, HULC, HUS1B, ID4, IRF4, JARID2, KDM1B, KIF13A, KU-MEL-3, LINC01600, LY86, LYRM4, MAK, MBOAT1, MCUR1, MYLIP, MYLK4, NEDD9, NHLRC1, NOL7, NQO2, NRN1, NUP153, OFCC1, PAK1IP1, PHACTR1, PPP1R3G, PRL, PRPF4B, PSMG4, PXDC1, RANBP9, RBM24, RIOK1, RIPK1, RNF144B, RNF182, RPP40, RREB1, SERPINB1, SERPINB6, SERPINB9, SIRT5, SLC22A23, SLC35B3, SMIM13, SNRNP48, SOX4, SSR1, STMND1, SYCP2L, TBC1D7, TFAP2A, TMEM14B, TMEM14C, TMEM170B, TPMT, TUBB2A, TUBB2B, WRNIP1 1 0 0 0 1
AGO1 0 0 1 0 1
AKIRIN2, ANKRD6, BACH2, C6orf163, CASP8AP2, CEP162, CFAP206, CGA, CNR1, CYB5R4, DOP1A, GABRR1, GABRR2, GJA10, GJB7, HTR1E, LYRM2, MAP3K7, MDN1, ME1, MRAP2, NT5E, ORC3, PGM3, PM20D2, PNRC1, PRSS35, RARS2, RIPPLY2, RNGTT, RRAGD, RWDD2A, SLC35A1, SMIM8, SNAP91, SNHG5, SNORD50A, SNORD50B, SNX14, SPACA1, SRSF12, SYNCRIP, TBX18, UBE2J1, UBE3D, ZNF292 1 0 0 0 1
ALPK3, LINC00933, LOC111718493, NMB, PDE8A, SEC11A, SLC28A1, WDR73, ZNF592, ZSCAN2 0 0 1 0 1
AMBRA1, ARHGAP1, ATG13, HARBI1, ZNF408 0 0 1 0 1
AMMECR1, TMEM164 0 0 1 0 1
ANGEL2, LOC112577542, RPS6KC1, VASH2 0 0 1 0 1
ANGPTL6, EIF3G, P2RY11, PPAN, PPAN-P2RY11, RDH8, SHFL 0 0 1 0 1
ANKDD1A, APH1B, CA12, CIAO2A, CILP, CLPX, CSNK1G1, DAPK2, DENND4A, DPP8, FBXL22, HACD3, HERC1, IGDCC3, IGDCC4, INTS14, KBTBD13, LACTB, MEGF11, MTFMT, OAZ2, PARP16, PCLAF, PDCD7, PIF1, PLEKHO2, PPIB, RAB11A, RAB8B, RASL12, RBPMS2, RNU5A-1, RPS27L, SLC24A1, SLC51B, SNX1, SNX22, SPG21, TRIP4, UBAP1L, USP3, ZNF609 0 1 0 0 1
ANKLE2 0 0 1 0 1
ANKRD11, LOC101927817, SPG7 0 0 1 0 1
ANKRD33B, CTNND2, DAP, MARCHF6, ROPN1L 0 0 1 0 1
ANO5, FANCF, GAS2, LINC01495, SLC17A6 0 0 1 0 1
ANOS1 0 0 1 0 1
AP1S1, MOGAT3, NAT16, PLOD3, SERPINE1, TRIM56, VGF 0 0 1 0 1
AP3M1, VCL 0 0 1 0 1
AP4S1, ARHGAP5, DTD2, GPR33, HEATR5A, HECTD1, LINC02313, LOC101927124, LOC112267854, MIR624, NUBPL, STRN3 0 0 1 0 1
AR, EDA2R 0 0 1 0 1
ARCN1 0 0 1 0 1
ARL8B, BHLHE40, EDEM1, EGOT, ITPR1, SUMF1 0 0 1 0 1
ARR3, AWAT1, P2RY4, PDZD11, RAB41 0 0 1 0 1
ARSD 0 0 1 0 1
ART1, CHRNA10, NUP98, PGAP2, RHOG 0 0 1 0 1
ARVCF 0 0 1 0 1
ARX, PCYT1B, POLA1 0 0 1 0 1
ASXL3 1 0 0 0 1
ATMIN, C16orf46, CDYL2, CENPN, CMC2, DYNLRB2, GCSH, PKD1L2 0 0 1 0 1
ATP1A2 0 0 1 0 1
ATP5ME, CPLX1, CRIPAK, CTBP1, DGKQ, FGFRL1, GAK, IDUA, MAEA, MYL5, NKX1-1, PCGF3, PDE6B, PIGG, RNF212, SLC26A1, SLC49A3, SPON2, TMEM175, UVSSA, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732 0 0 1 0 1
ATP6V0A1 0 0 1 0 1
ATRX 0 0 1 0 1
ATXN1 0 0 0 1 1
AURKC, DUXA, USP29, ZIM3, ZNF17, ZNF264, ZNF304, ZNF460, ZNF543, ZNF547, ZNF548, ZNF749, ZNF805 0 0 1 0 1
B3GALT2, CDC73, GLRX2, LINC01031, LINC01032, LOC111556116, MIR1278, MIR4426, RGS1, RGS13, RGS18, RGS2, RGS21, RO60, SCARNA18B, UCHL5 1 0 0 0 1
B4GALT7, DBN1, DDX41, DOK3, F12, FAM153A, FAM193B, GRK6, PDLIM7, PFN3, PROP1, PRR7, RGS14, SLC34A1, TMED9 0 0 1 0 1
BCL11B 0 0 1 0 1
BCR, DRICH1, IGLL1 0 0 1 0 1
BMPR1B, PDLIM5, UNC5C 0 0 0 1 1
BRCA1, LOC110485084, LOC111589215, LOC111589216, NBR2 1 0 0 0 1
BRCC3, CLIC2, CMC4, F8, F8A1, FUNDC2, MTCP1, RAB39B, VBP1 0 1 0 0 1
C10orf99, CCSER2, CDHR1, GHITM, LRIT1, LRIT2, RGR 0 0 1 0 1
C6orf132, GUCA1A, GUCA1B 0 0 0 1 1
C9, DAB2, FYB1, LINC00603, LINC02104, LOC108348025, PTGER4, TTC33 0 0 1 0 1
CACNA1B, LOC100133077 0 0 1 0 1
CACNA1E 0 0 1 0 1
CACNG2, EIF3D, FOXRED2, TXN2 0 0 1 0 1
CAMTA1 0 0 1 0 1
CAND2, IQSEC1, MKRN2, RAF1, RPL32, TMEM40 0 0 1 0 1
CASK, DDX3X, NYX 0 0 1 0 1
CATSPER2, STRC 1 0 0 0 1
CBX7, PDGFB, RPL3, SNORD139, SNORD83A, SNORD83B 0 0 1 0 1
CCDC106, EPN1, FIZ1, LOC112553116, NLRP11, NLRP13, NLRP4, NLRP9, RFPL4A, RFPL4AL1, U2AF2, ZNF524, ZNF580, ZNF581, ZNF784, ZNF865 0 0 1 0 1
CCDC81, CCDC83, CCDC89, CREBZF, DLG2, EED, FZD4, HIKESHI, ME3, PICALM, PRSS23, SYTL2, TMEM126A, TMEM126B, TMEM135 1 0 0 0 1
CCNC, COQ3, FAXC, LOC101927365, LOC111365204, MCHR2, PNISR, PRDM13, TSTD3, USP45 0 0 1 0 1
CCNY, CREM, CUL2, FZD8, GJD4, LINC00838, LINC02628, LINC02634, LOC110121405, LOC111946232, MIR3611, MIR4683, NRP1, PARD3 0 0 1 0 1
CD36, GNAI1, GNAT3, MAGI2, PHTF2, PTPN12, RSBN1L, SEMA3C, TMEM60 0 0 1 0 1
CD8B2, GACAT1, LINC01789, LINC01885, LINC01886, RGPD3, RGPD4, ST6GAL2 0 0 1 0 1
CDC5L 0 0 1 0 1
CDR2, EEF2K, LOC111562378, LOC440346, MOSMO, PDZD9, POLR3E, SDR42E2, TRL-AAG2-4, TRL-TAG3-1, UQCRC2, VWA3A 0 0 1 0 1
CEP89, SLC7A9 0 1 0 0 1
CETN2, CSAG1, MAGEA2, MAGEA3, NSDHL, ZNF185 0 0 1 0 1
CHD3 0 0 1 0 1
CHTOP, ILF2, INTS3, NPR1, SNAPIN 0 0 1 0 1
CIT 0 0 1 0 1
CKAP5 0 0 1 0 1
CLN5, FBXL3 0 0 1 0 1
CLTC 0 0 1 0 1
CNE7, LOC108251802 0 0 1 0 1
CNOT1 0 0 1 0 1
CNTN1, GXYLT1, LRRK2, MUC19, PDZRN4, PPHLN1, PRICKLE1, SLC2A13, YAF2, ZCRB1 0 0 1 0 1
CNTN6 0 0 1 0 1
COLEC12, THOC1, USP14 0 0 0 1 1
COMMD4, CSPG4, IMP3, MAN2C1, NEIL1, ODF3L1, PTPN9, SIN3A, SNUPN, SNX33 0 0 1 0 1
CREB3L4, CRTC2, DENND4B, GATAD2B, JTB, MIR6737, NUP210L, RAB13, RPS27, SLC39A1 0 1 0 0 1
CRX, TPRX1 0 0 1 0 1
CSNK2A1 0 0 1 0 1
CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT55, INTS6L, SAGE1, ZNF449, ZNF75D 0 0 1 0 1
CTNNB1 1 0 0 0 1
CXorf40B, HSFX1, MAGEA11, MAGEA8, MAGEA9, MAMLD1 0 0 1 0 1
CYP4V2, F11, FAT1, KLKB1, MTNR1A 0 0 1 0 1
DCC 0 0 1 0 1
DCDC1, DNAJC24, IMMP1L 0 0 1 0 1
DDX3X 1 0 0 0 1
DEC1, PAPPA, TNC, TNFSF8 0 0 1 0 1
DEPDC1B, PART1, PDE4D 0 0 1 0 1
DLL1, FAM120B, PDCD2, PSMB1, TBP 0 0 1 0 1
DNAH7 0 0 1 0 1
DYNC1H1 0 1 0 0 1
EGOT, ITPR1, SETMAR, SUMF1 0 0 1 0 1
ELOC, GDAP1, JPH1, LINC01617, LY96, TMEM70, UBE2W 0 0 1 0 1
EXOC6B 0 1 0 0 1
FAAP100, FSCN2 0 0 1 0 1
FGF14, MIR2681 0 1 0 0 1
FGFR2 0 0 1 0 1
FMC1-LUC7L2, LUC7L2 0 0 1 0 1
FMN2 0 1 0 0 1
FOXP2, MDFIC, TES, TFEC 1 0 0 0 1
FXN, PIP5K1B, PRKACG, TJP2 0 0 1 0 1
GATAD2B 1 0 0 0 1
GLT1D1, SLC15A4, TMEM132C, TMEM132D 0 0 1 0 1
GNB1L 0 0 1 0 1
GNPTAB 1 0 0 0 1
GPC5, GPC6 0 0 1 0 1
GPC5, GPC6, MIR17, MIR17HG, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1 0 1 0 0 1
GPR143, SHROOM2, TBL1X, WWC3 0 0 1 0 1
GRIN2A 0 0 1 0 1
GRIP1 0 0 1 0 1
HDAC4, LOC100128563, TWIST2 0 0 1 0 1
HECW2 0 0 1 0 1
HPRT1 0 0 1 0 1
ITPR1, ITPR1-DT, LOC112935931, LOC112935932, SETMAR, SUMF1 1 0 0 0 1
ITSN1 0 0 1 0 1
KANSL1 1 0 0 0 1
KCND2 0 0 1 0 1
KCNQ3 1 0 0 0 1
KCTD3, USH2A 0 0 1 0 1
KIF11 1 0 0 0 1
L1CAM 0 0 1 0 1
LLGL2, RECQL5, SAP30BP, SMIM5, SMIM6, TSEN54 0 0 1 0 1
LOC102724058, SCN1A 0 0 1 0 1
LOC107652445, SHOX 1 0 0 0 1
LOC110121071, MIR8485, NRXN1 1 0 0 0 1
LPA 0 0 1 0 1
MAGEL2 0 0 1 0 1
MAPK8IP3 0 0 1 0 1
MEA1, PPP2R5D 0 0 1 0 1
MED12 0 0 1 0 1
MED12L 0 0 1 0 1
MEF2C 1 0 0 0 1
MITF 1 0 0 0 1
MMP20 0 0 1 0 1
MOB1A 0 0 1 0 1
MYOZ2 0 0 1 0 1
NAA15 0 0 1 0 1
NDP 0 0 1 0 1
NEXMIF 0 0 1 0 1
NIPBL 0 0 1 0 1
NKAIN2, TRDN 0 0 1 0 1
NLGN4X 0 0 1 0 1
NRXN2 0 0 1 0 1
PAFAH1B1 1 0 0 0 1
PDE11A 0 0 1 0 1
PDSS2, SCML4, SOBP 0 0 1 0 1
PHEX, PTCHD1 0 1 0 0 1
PKP2 0 1 0 0 1
PLEKHA3, TTN 0 1 0 0 1
PMS2 0 1 0 0 1
PNPLA4, PUDP, STS, VCX, VCX2, VCX3A 0 0 1 0 1
POGZ 0 0 1 0 1
PRKCZ 0 0 1 0 1
PRR12 0 0 1 0 1
PTCH1 0 0 1 0 1
PTEN 0 1 0 0 1
RAF1 0 0 1 0 1
RARB 0 0 1 0 1
RBM33, SHH 0 1 0 0 1
RNASEH2B 1 0 0 0 1
RNF135 0 0 1 0 1
RNPC3 0 0 1 0 1
ROBO1 0 0 1 0 1
SALL1 1 0 0 0 1
SCN11A 1 0 0 0 1
SDHA 1 0 0 0 1
SETD1A 0 0 1 0 1
SLC12A2 0 0 1 0 1
SLC2A1 1 0 0 0 1
SLC6A3 1 0 0 0 1
SMARCA2 0 0 1 0 1
SPEN 0 0 1 0 1
SRPK3 0 0 1 0 1
STAT1 0 0 1 0 1
STXBP1 1 0 0 0 1
TAF4 0 0 1 0 1
TBC1D30 0 0 1 0 1
TENM1 0 0 1 0 1
TOX2 0 0 1 0 1
TRERF1 0 0 1 0 1
TUBB2B 0 0 1 0 1
TUSC3 1 0 0 0 1
UBR5 0 0 1 0 1
UPF3B 1 0 0 0 1
UPRT, ZDHHC15 0 0 1 0 1
USP48 0 0 1 0 1
VN1R1, ZIK1, ZNF134, ZNF211, ZNF416, ZNF419, ZNF530, ZNF549, ZNF550, ZNF551, ZNF749, ZNF772, ZNF773, ZSCAN4 0 0 1 0 1
ZMYM3 0 0 1 0 1
ZNF711 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 112
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
not provided 16 12 135 4 167
Breast-ovarian cancer, familial 2 3 0 0 0 3
Autism 17 0 0 2 0 2
Autism, susceptibility to, 18 1 1 0 0 2
Autistic disorder of childhood onset 0 0 2 0 2
Autosomal dominant optic atrophy plus syndrome 0 0 2 0 2
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 1 1 0 0 2
Carpenter syndrome 2 0 0 2 0 2
Cornelia de Lange syndrome 4 0 0 2 0 2
Dermatitis, atopic, 2 2 0 0 0 2
Homocystinuria due to CBS deficiency 0 0 2 0 2
Leigh syndrome, French Canadian type 0 0 2 0 2
Leukoencephalopathy with vanishing white matter 0 0 2 0 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 0 0 2 0 2
Meckel syndrome 12 0 0 2 0 2
Mental retardation, autosomal dominant 18 1 1 0 0 2
Mental retardation, autosomal dominant 26 0 0 2 0 2
Mental retardation, autosomal recessive 46 0 0 2 0 2
Mental retardation, autosomal recessive 5 0 0 2 0 2
Merosin deficient congenital muscular dystrophy 0 0 2 0 2
Mucopolysaccharidosis, MPS-III-A 2 0 0 0 2
Myopathy, Central Core; Malignant hyperthermia, susceptibility to, 1 0 1 1 0 2
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 1 0 1 0 2
Primary autosomal recessive microcephaly 5 0 1 1 0 2
Stickler syndrome, type 3 0 0 2 0 2
Acquired hemoglobin H disease; ATR-X syndrome; Mental retardation-hypotonic facies syndrome X-linked, 1 0 0 1 0 1
Acrodysostosis 2, with or without hormone resistance 0 0 1 0 1
Aicardi Goutieres syndrome 2 1 0 0 0 1
Alternating hemiplegia of childhood 1; Familial hemiplegic migraine type 2 0 0 1 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 1 0 0 1
Asperger syndrome X-linked 2; Autism, susceptibility to, X-linked 2 0 0 1 0 1
Axenfeld-Rieger syndrome type 3 1 0 0 0 1
Bainbridge-Ropers syndrome 1 0 0 0 1
Becker muscular dystrophy 1 0 0 0 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 1 0 0 0 1
Brain malformations and urinary tract defects 1 0 0 0 1
Breast-ovarian cancer, familial 1 1 0 0 0 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 1 0 1
Ceroid lipofuscinosis neuronal 5 0 0 1 0 1
Charcot-Marie-Tooth disease type 2K 0 0 1 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1b; Variegate porphyria; Familial hemiplegic migraine type 2; Paragangliomas 3 1 0 0 0 1
Chromosome 15q11-q13 duplication syndrome 0 0 1 0 1
Coffin-Siris syndrome 1; Nicolaides-Baraitser syndrome 0 0 1 0 1
Corneal dystrophy, Fuchs endothelial, 3 0 0 1 0 1
Cornelia de Lange syndrome 1 0 0 1 0 1
Cutaneous malignant melanoma 8 1 0 0 0 1
Cystinuria 0 1 0 0 1
Deafness, autosomal dominant 56 0 0 1 0 1
Deafness, autosomal recessive 16 1 0 0 0 1
Dilated cardiomyopathy 1G 0 1 0 0 1
Dilated cardiomyopathy 1W; Familial hypertrophic cardiomyopathy 15 0 0 1 0 1
Early infantile epileptic encephalopathy 11 0 0 1 0 1
Early infantile epileptic encephalopathy 4 1 0 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 1 0 1
Exudative vitreoretinopathy 1 1 0 0 0 1
FRASER SYNDROME 3 0 0 1 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 1 0 0 1
Familial hypertrophic cardiomyopathy 16 0 0 1 0 1
GLUT1 deficiency syndrome 1 1 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 0 1 0 1
Gorlin syndrome; Holoprosencephaly 7 0 0 1 0 1
Hereditary nonpolyposis colorectal cancer type 4 0 1 0 0 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 1 0 0 0 1
I cell disease; Pseudo-Hurler polydystrophy 1 0 0 0 1
Infantile Parkinsonism-dystonia 1 0 0 0 1
Juvenile polyposis syndrome 1 0 0 0 1
Kallmann syndrome 1 0 0 1 0 1
Koolen-de Vries syndrome 1 0 0 0 1
Leri Weill dyschondrosteosis 0 0 1 0 1
Lesch-Nyhan syndrome 0 0 1 0 1
Lissencephaly 1 1 0 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 0 0 1 0 1
Macrocephaly, macrosomia, facial dysmorphism syndrome 0 0 1 0 1
Macrocephaly/autism syndrome; Cowden syndrome 1 0 1 0 0 1
Mental retardation, X-linked 102 1 0 0 0 1
Mental retardation, X-linked 98 0 0 1 0 1
Mental retardation, autosomal dominant 19 1 0 0 0 1
Mental retardation, autosomal dominant 35 0 0 1 0 1
Mental retardation, autosomal recessive 47 0 1 0 0 1
Mental retardation, autosomal recessive 7 1 0 0 0 1
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 1 0 0 0 1
Mental retardation, syndromic 14, X-linked 1 0 0 0 1
Microcephaly 16, primary, autosomal recessive 0 0 1 0 1
Microcephaly 17, primary, autosomal recessive 0 0 1 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1 0 0 0 1
Microphthalmia, syndromic 12 0 0 1 0 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 0 1 0 1
Mirror movements 1 0 0 1 0 1
Mitochondrial complex I deficiency 0 0 1 0 1
Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 0 0 1 0 1
Nemaline myopathy 6 0 1 0 0 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 1 0 1
Neuropathy, hereditary sensory and autonomic, type VII 1 0 0 0 1
Okur-chung neurodevelopmental syndrome 0 0 1 0 1
Paragangliomas 5 1 0 0 0 1
Parkinson disease 2 0 1 0 0 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 1 0 1
Pitt-Hopkins syndrome 0 1 0 0 1
Pitt-Hopkins-like syndrome 2 1 0 0 0 1
Plasminogen activator inhibitor type 1 deficiency 0 0 1 0 1
Polymicrogyria, asymmetric 0 0 1 0 1
Schaaf-yang syndrome 0 0 1 0 1
Schizophrenia 17 1 0 0 0 1
Spinocerebellar ataxia 15 1 0 0 0 1
Spinocerebellar ataxia 27 0 1 0 0 1
Townes-Brocks syndrome 1 1 0 0 0 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 0 1 0 1
White-sutton syndrome 0 0 1 0 1
Witteveen-kolk syndrome 0 0 1 0 1
X-linked hydrocephalus syndrome 0 0 1 0 1
X-linked mental retardation with marfanoid habitus syndrome; FG syndrome; Ohdo syndrome, X-linked 0 0 1 0 1
ZNF711-Related X-linked Mental Retardation 0 1 0 0 1

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