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
30 16 112 1 0 156

Gene and significance breakdown #

Total genes and gene combinations: 243
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
ASPM 0 1 1 0 2
AUTS2 0 0 2 0 2
BRCA2 2 0 0 0 2
CBS 0 0 2 0 2
CCDST, FLG 2 0 0 0 2
CHD8 1 1 0 0 2
COL11A2 0 0 2 0 2
EIF2B5 0 0 2 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, POLGARF 1 1 0 0 2
RAD21 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
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
​intergenic 1 1 1 0 1
AADAT, ANP32C, ANXA10, CBR4, CLCN3, CPE, DDX60, DDX60L, FAM218A, GALNTL6, HPF1, KLHL2, LOC101928198, 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, AFG2B, 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, ATOSA, ATP8B4, AVEN, B2M, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BMF, BNC1, BNIP2, BTBD1, BUB1B, C15orf32, C15orf39, C15orf40, C15orf48, C15orf61, C15orf62, C2CD4A, C2CD4B, CA12, CALML4, CAPN3, CATSPER2, CCDC32, CCDC33, CCDC9B, CCNB2, CCNDBP1, CCPG1, CD276, CDAN1, CDIN1, 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, FAM174B, 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, GOLGA8A, GOLGA8B, GOLGA8N, GOLGA8O, GOLM2, 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, LINC02915, 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, PIERCE2, 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, SKIC8, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLCO3A1, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNRPA1, SNUPN, SNX1, SNX22, SNX33, SORD, SPATA8, SPESP1, SPG11, SPG21, SPINT1, SPPL2A, SPRED1, SPTBN5, SQOR, SRP14, ST20, ST20-MTHFS, ST8SIA2, STARD5, STARD9, STOML1, STRA6, STRC, SV2B, SYNM, TARS3, 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, 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, DNAAF10, 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, 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, ELAPOR2, ERVW-1, FAM133B, FGL2, FZD1, GATAD1, GNAI1, GNAT3, GNG11, GNGT1, GRM3, GSAP, GTF2I, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, HEPACAM2, HGF, HIP1, HSPB1, KRIT1, LAT2, 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, 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, MAP1LC3B, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SLC7A5, SNAI3, TRAPPC2L, ZC3H18, ZCCHC14, ZCCHC14-DT, ZFPM1, ZNF469, ZNF778 1 0 0 0 1
ACSL1, AGA, ANKRD37, ASB5, CASP3, CCDC110, CDKN2AIP, CENPU, CFAP96, 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, FTCD, LINC00163, LINC00315, LINC00334, LSS, MCM3AP, PCBP3, PCNT, POFUT2, PRMT2, S100B, SLC19A1, SLX9, 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, PEDS1, PEDS1-UBE2V1, PREX1, PTGIS, PTPN1, RIPOR3, RNF114, SALL4, SLC9A8, SNAI1, SPATA2, STAU1, 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, LOC105370947, LOC111718493, LOC125138300, LOC130057801, LOC130057802, LOC130057803, LOC130057804, LOC130057805, LOC130057806, LOC130057807, LOC130057808, LOC130057809, LOC130057810, LOC130057811, LOC130057812, LOC130057813, LOC130057814, LOC130057815, LOC130057816, LOC130057817, LOC130057818, LOC130057819, LOC130057820, LOC130057821, LOC130057822, LOC130057823, LOC130057824, LOC132090353, LOC132090354, LOC132090355, LOC132090356, LOC132090885, NMB, PDE8A, SEC11A, SLC28A1, WDR73, ZNF592, ZSCAN2 0 0 1 0 1
AMBRA1, ARHGAP1, ATG13, HARBI1, LOC124433256, LOC130005656, LOC130005657, LOC130005658, LOC130005659, ZNF408 0 0 1 0 1
AMMECR1, TMEM164 0 0 1 0 1
ANGEL2, LOC112577542, LOC115804246, LOC122149497, LOC129932487, LOC129932488, LOC129932489, LOC129932490, LOC129932491, LOC129932492, LOC129932493, LOC129932494, 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, LOC126861161, LOC130005443, LOC130005444, LOC130005445, LOC132089923, LOC132089924, LOC132089925, SLC17A6, SLC17A6-DT 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, HEATR5A-DT, HECTD1, LINC02313, LOC112267854, LOC121838588, LOC124995355, LOC124995356, LOC124995359, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC129390617, LOC129390618, LOC129390619, LOC130055443, LOC130055444, LOC130055445, LOC130055446, LOC130055447, LOC130055448, LOC130055449, LOC130055450, LOC130055451, LOC130055452, LOC130055453, LOC130055454, MIR624, NUBPL, NUBPL-DT, 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, LOC130067891 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, LINC02770, LOC111556116, LOC120893169, LOC122149332, LOC122149333, LOC122149334, LOC126805961, LOC126805962, LOC129388703, LOC129388704, LOC129388705, LOC129388706, LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129388712, LOC129388713, LOC129932134, LOC129932135, LOC129932136, LOC129932137, LOC129932138, LOC129932139, LOC129932140, LOC129932141, LOC129932142, LOC129932143, LOC129932144, LOC129932145, LOC129932146, LOC129932147, LOC129932148, LOC129932149, LOC129932150, LOC129932151, LOC132088601, LOC132088602, LOC132090670, 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, LOC126862571, NBR2 1 0 0 0 1
BRCC3, CLIC2, CMC4, F8, F8A1, FUNDC2, MTCP1, RAB39B, VBP1 0 1 0 0 1
C6orf132, GUCA1A, GUCA1B 0 0 0 1 1
C9, DAB2, FYB1, LINC00603, LINC00604, LINC02104, LOC108348025, LOC123493297, LOC123493298, LOC123493299, LOC126807370, LOC126807371, LOC126807372, LOC128667222, LOC129993828, LOC129993829, LOC129993830, LOC129993831, LOC129993832, LOC129993833, LOC132089246, LOC132089247, LOC132089248, LOC132090728, 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, LOC130056948, LOC130056949, STRC 1 0 0 0 1
CBX7, PDGFB, RPL3, SNORD139, SNORD83A, SNORD83B 0 0 1 0 1
CCDC106, EPN1, FIZ1, LOC107983998, LOC112553116, LOC125384545, LOC125384546, LOC130065126, LOC130065127, LOC130065128, LOC130065129, LOC130065130, LOC130065131, LOC130065132, LOC130065133, LOC130065134, LOC130065135, LOC130065136, LOC130065137, LOC130065138, LOC130065139, LOC130065140, LOC130065141, LOC130065142, LOC130065143, LOC130065144, LOC130065145, 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, LOC111365204, LOC121740659, LOC123775390, LOC126859748, LOC129389590, LOC129389591, LOC129996868, LOC129996869, LOC129996870, LOC129996871, LOC129996872, LOC129996873, LOC129996874, LOC129996875, LOC129996876, LOC129996877, LOC129996878, LOC129996879, LOC129996880, LOC129996881, LOC129996882, MCHR2, PNISR, PRDM13, TSTD3, USP45 0 0 1 0 1
CCNY, CREM, CUL2, FZD8, GJD4, LINC00838, LINC02628, LINC02629, LINC02634, LOC110121405, LOC111946232, LOC124403933, LOC124403934, LOC124403935, LOC124403936, LOC124403937, LOC124403938, LOC124403939, LOC124403940, LOC126860910, LOC126860911, LOC126860912, LOC126860913, LOC126860914, LOC126860915, LOC126860916, LOC129390163, LOC129390164, LOC129390165, LOC130003661, LOC130003662, LOC130003663, LOC130003664, LOC130003665, LOC130003666, LOC130003667, LOC130003668, LOC130003669, LOC130003670, LOC130003671, LOC130003672, LOC130003673, LOC130003674, LOC130003675, LOC130003676, LOC130003677, LOC130003678, LOC130003679, LOC130003680, LOC130003681, LOC130003682, LOC130003683, LOC130003684, LOC130003685, LOC130003686, LOC130003687, LOC130003688, LOC130003689, LOC130003690, LOC130003691, LOC130003692, MIR3611, MIR4683, NRP1, PARD3, PARD3-DT 0 0 1 0 1
CCSER2, CDHR1, GHITM, GPR15LG, LRIT1, LRIT2, RGR 0 0 1 0 1
CD36, GNAI1, GNAT3, MAGI2, PHTF2, PTPN12, RSBN1L, SEMA3C, TMEM60 0 0 1 0 1
CD8B2, GACAT1, LINC01789, LINC01885, LINC01886, LOC120961778, LOC126806299, LOC126806300, LOC129388896, LOC129934517, LOC129934518, RGPD3, RGPD4, ST6GAL2 0 0 1 0 1
CDC5L, POLR1C 0 0 1 0 1
CDR2, CDR2-DT, EEF2K, LOC105371129, LOC111562378, LOC121587534, LOC125146427, LOC125146428, LOC126862313, LOC130058629, LOC130058630, LOC130058631, LOC130058632, LOC130058633, LOC130058634, LOC130058635, LOC130058636, LOC130058637, LOC130058638, LOC130058639, LOC130058640, LOC130058641, LOC130058642, LOC130058643, LOC130058644, LOC130058645, LOC130058646, LOC132090373, 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, LOC126862484 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 0 0 1 0 1
CLTC, LOC126862609 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
CNTN4, LOC107522028, LOC129936036, LOC129936037, LOC129936038, LOC132088949 0 0 1 0 1
CNTN4, LOC107522028, LOC132088944, LOC132088949 0 0 1 0 1
CNTN6 0 0 1 0 1
COLEC12, LOC130062072, LOC130062073, 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, JTB-DT, LOC122128431, LOC122128432, LOC122128433, LOC126805871, LOC126805872, LOC129931485, LOC129931486, LOC129931487, LOC129931488, LOC129931489, LOC129931490, LOC129931491, LOC129931492, LOC129931493, LOC129931494, LOC129931495, LOC129931496, 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, LOC126806658 1 0 0 0 1
CYP4V2, F11, FAT1, KLKB1, MTNR1A 0 0 1 0 1
DCC 0 0 1 0 1
DCDC1, DNAJC24, IMMP1L, LOC126861175, LOC129390272, LOC130005470 0 0 1 0 1
DDX3X 1 0 0 0 1
DELEC1, PAPPA, TNC, TNFSF8 0 0 1 0 1
DEPDC1B, LOC123493321, LOC123493322, LOC129993942, LOC129993943, LOC129993944, PART1, PDE4D 0 0 1 0 1
DLL1, FAM120B, PDCD2, PSMB1, TBP 0 0 1 0 1
DMD 1 0 0 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, LOC126860420, LOC129390012, LOC130000611, LOC130000612, LOC130000613, LOC130000614, LOC130000615, LOC130000616, LOC130000617, LOC130000618, LOC130000619, LOC130000620, LOC130000621, LOC130000622, LY96, TMEM70, UBE2W 0 0 1 0 1
EOLA2, HSFX1, MAGEA11, MAGEA8, MAGEA9, MAMLD1 0 0 1 0 1
EXOC6B 0 1 0 0 1
FAAP100, FSCN2 0 0 1 0 1
FGF14, LOC124946331, 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, LOC121725127, LOC122889019, LOC122889020, LOC129936053, LOC129936054, LOC129936055, LOC129936056, LOC129936057, LOC129936058, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, 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
LOC105371856, TANC2 0 0 1 0 1
LOC107652445, SHOX 1 0 0 0 1
LOC110121071, LOC129388861, MIR8485, NRXN1 1 0 0 0 1
LOC123775394, LOC129389601, LOC129996927, LOC129996928, LOC129996929, LOC129996930, LOC129996931, LOC129996932, PDSS2, SCML4, SOBP 0 0 1 0 1
LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, PLEKHA3, TTN 0 1 0 0 1
LOC126859871, PRKN 0 1 0 0 1
LPA 0 0 1 0 1
MAGEL2 0 0 1 0 1
MAPK8IP3 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
PHEX, PTCHD1 0 1 0 0 1
PKP2 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
PPP2R5D 0 0 1 0 1
PRKCZ 0 0 1 0 1
PRKN 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
RBFOX1 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
SNTG2, TPO 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
TANC2 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 3 5 54 1 60
Breast-ovarian cancer, familial, susceptibility to, 2 3 0 0 0 3
Autism, susceptibility to, 17 0 0 2 0 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1 0 1 1 0 2
Classic homocystinuria 0 0 2 0 2
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 0 2 0 2
Cornelia de Lange syndrome 4 0 0 2 0 2
Dermatitis, atopic, 2 2 0 0 0 2
Intellectual developmental disorder with autism and macrocephaly 1 1 0 0 2
Intellectual disability, autosomal dominant 56 0 0 2 0 2
Intellectual disability, autosomal recessive 46 0 0 2 0 2
Intellectual disability, autosomal recessive 5 0 0 2 0 2
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 0 2 0 2
MEGF8-related Carpenter syndrome 0 0 2 0 2
Merosin deficient congenital muscular dystrophy 0 0 2 0 2
Microcephaly 5, primary, autosomal recessive 0 1 1 0 2
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 1 0 1 0 2
Mucopolysaccharidosis, MPS-III-A 2 0 0 0 2
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 0 0 2 0 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant 0 0 2 0 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 1 1 0 0 2
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 1 0 0 2
Vanishing white matter disease 0 0 2 0 2
15q11q13 microduplication syndrome 0 0 1 0 1
Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-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; Migraine, familial hemiplegic, 2 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 9 0 1 0 0 1
Asperger syndrome, X-linked, susceptibility to, 2; Autism, susceptibility to, X-linked 2 0 0 1 0 1
Autism 0 0 1 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 56 0 0 1 0 1
Autosomal recessive juvenile Parkinson disease 2 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 16 1 0 0 0 1
Axenfeld-Rieger syndrome type 3 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
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2K 0 0 1 0 1
Charcot-Marie-Tooth disease type 1B; Variegate porphyria; Migraine, familial hemiplegic, 2; Paragangliomas 3 1 0 0 0 1
Chromosome 1p32-p31 deletion syndrome 1 0 0 0 1
Chromosome 2p16.3 deletion syndrome 1 0 0 0 1
Classic dopamine transporter deficiency syndrome 1 0 0 0 1
Coffin-Siris syndrome 1; Nicolaides-Baraitser syndrome 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 7 0 0 1 0 1
Congenital plasminogen activator inhibitor type 1 deficiency 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
Cystinuria 0 1 0 0 1
Developmental and epileptic encephalopathy, 11 0 0 1 0 1
Developmental and epileptic encephalopathy, 4 1 0 0 0 1
Dilated cardiomyopathy 1G 0 1 0 0 1
Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 0 0 1 0 1
Encephalopathy due to GLUT1 deficiency 1 0 0 0 1
Exudative vitreoretinopathy 1 1 0 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 1 0 0 1
Fraser syndrome 3 0 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 0 1 0 1
Generalized juvenile polyposis/juvenile polyposis coli 1 0 0 0 1
Gorlin syndrome; Holoprosencephaly 7 0 0 1 0 1
Hereditary sensory and autonomic neuropathy type 7 1 0 0 0 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 1 0 0 0 1
Hypertrophic cardiomyopathy 16 0 0 1 0 1
Hypogonadotropic hypogonadism 1 with or without anosmia 0 0 1 0 1
Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 0 0 1 0 1
Intellectual disability, X-linked 102 1 0 0 0 1
Intellectual disability, X-linked 97 0 1 0 0 1
Intellectual disability, autosomal dominant 20 1 0 0 0 1
Intellectual disability, autosomal dominant 50 0 0 1 0 1
Intellectual disability, autosomal recessive 47 0 1 0 0 1
Intellectual disability, autosomal recessive 7 1 0 0 0 1
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome 0 0 1 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 0 1 0 1
Koolen-de Vries syndrome 1 0 0 0 1
Landau-Kleffner syndrome 0 0 1 0 1
Leri-Weill dyschondrosteosis 0 0 1 0 1
Lesch-Nyhan syndrome 0 0 1 0 1
Lissencephaly due to LIS1 mutation 1 0 0 0 1
Lynch syndrome 4 0 1 0 0 1
Macrocephaly, macrosomia, facial dysmorphism syndrome 0 0 1 0 1
Macrocephaly-autism syndrome; Cowden syndrome 1 0 1 0 0 1
Melanoma, cutaneous malignant, susceptibility to, 8 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 intellectual disability 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
Mucolipidosis type II; Pseudo-Hurler polydystrophy 1 0 0 0 1
Nemaline myopathy 6 0 1 0 0 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 1 0 1
Neuronal ceroid lipofuscinosis 5 0 0 1 0 1
Okur-Chung neurodevelopmental syndrome 0 0 1 0 1
Paragangliomas 5 1 0 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
SIN3A-related intellectual disability syndrome due to a point mutation 0 0 1 0 1
Schaaf-Yang syndrome 0 0 1 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 1
Spinocerebellar ataxia type 15/16 1 0 0 0 1
Spinocerebellar ataxia type 27 0 1 0 0 1
Syndromic X-linked intellectual disability 14 1 0 0 0 1
Townes-Brocks syndrome 1 1 0 0 0 1
Usher syndrome type 2A; Retinitis pigmentosa 39 0 0 1 0 1
X-linked hydrocephalus syndrome 0 0 1 0 1
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 0 0 1 0 1
X-linked intellectual disability, Cantagrel type 0 0 1 0 1

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