ClinVar Miner

Variants from Institute of Human Genetics, University of Goettingen

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

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
89 231 492 22 0 834

Gene and significance breakdown #

Total genes and gene combinations: 605
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
KMT2D 4 3 3 0 10
​intergenic 0 0 7 0 7
ARID1B 2 2 3 0 7
NSD1 1 5 0 1 7
CHD7 3 2 1 0 6
COL11A1 0 1 5 0 6
COL1A1 1 3 2 0 6
SPTAN1 0 4 1 0 5
ATM 0 3 1 0 4
KCNQ5 0 0 4 0 4
NF1 2 0 2 0 4
RYR1 0 2 2 0 4
SCN2A 0 1 3 0 4
SETD5 1 0 3 0 4
SMARCA2 0 1 3 0 4
SPAST 0 2 2 0 4
USH2A 1 2 0 1 4
BRCA2 1 1 1 0 3
CACNA1C 0 1 2 0 3
CBL 0 1 2 0 3
CHD8 0 3 0 0 3
CHM 1 1 1 0 3
DONSON 0 2 1 0 3
DYNC1H1 0 0 3 0 3
ENG 1 1 1 0 3
FBN1 0 0 3 0 3
FBXO11 0 1 2 0 3
FOXP1 0 1 2 0 3
HDAC8 0 2 1 0 3
IGF1R 0 1 2 0 3
KCNQ2 0 2 1 0 3
KDM5C 0 1 2 0 3
KIF5A 0 1 2 0 3
KMT2A 1 1 1 0 3
LRP5 0 0 3 0 3
MAP1B 0 0 3 0 3
MSH2 1 0 2 0 3
MYO7A 0 2 1 0 3
POGZ 1 1 1 0 3
PUM1 0 1 2 0 3
SETD1A 0 0 3 0 3
SMC3 0 0 3 0 3
SPG7 0 0 3 0 3
SUFU 2 1 0 0 3
TBCEL-TECTA, TECTA 0 1 2 0 3
TNRC6B 0 2 1 0 3
TRRAP 0 0 2 1 3
TUBA1A 1 2 0 0 3
ACO2 0 1 1 0 2
ACO2, POLR3H 0 1 1 0 2
ACTB 0 1 1 0 2
ACVRL1 0 2 0 0 2
AHDC1 1 0 1 0 2
AP4M1 0 2 0 0 2
APC 1 0 1 0 2
ARFGEF1 0 0 2 0 2
ARL3 0 0 2 0 2
ATM, C11orf65 0 0 2 0 2
ATP1A2 0 1 1 0 2
ATP6V0A1 0 0 2 0 2
ATP6V1A 0 0 0 2 2
BCL11A 1 0 1 0 2
BCORL1 0 0 2 0 2
BRAF 1 0 1 0 2
CACNA1G 0 0 2 0 2
CDK13 0 1 1 0 2
CERT1, POLK 0 0 2 0 2
CHD2 0 1 1 0 2
CHD3 0 0 2 0 2
CHD5 0 1 1 0 2
CNOT1 0 0 2 0 2
COCH 0 0 2 0 2
COL2A1 0 1 1 0 2
COL3A1 1 0 1 0 2
COL4A1 0 1 1 0 2
COL4A5 0 1 1 0 2
COMP 0 0 2 0 2
CPT1C 0 1 1 0 2
CRX 0 0 2 0 2
CRYAB 0 0 2 0 2
CUL4B 0 1 1 0 2
CUX2 0 1 1 0 2
DCTN1 0 0 2 0 2
DMP1, DSPP 0 1 1 0 2
DNM2 0 0 2 0 2
DYRK1A 1 1 0 0 2
EHMT1 0 1 1 0 2
EXOSC8 0 2 0 0 2
EXT1 0 1 1 0 2
FARSA 0 0 2 0 2
FGD4 0 1 1 0 2
FLNA 0 0 2 0 2
FLT4 0 0 2 0 2
FOXL2 1 0 1 0 2
GABRB2 0 1 1 0 2
GBE1 0 1 1 0 2
GRIN2B 0 1 1 0 2
HCN1 0 0 2 0 2
HNRNPK 0 0 2 0 2
ILDR1 0 0 2 0 2
INPP5K 0 0 2 0 2
KAT6B 0 1 1 0 2
KCNH2 0 2 0 0 2
KDM3B 0 0 2 0 2
KDM4B 0 0 2 0 2
KLHL7 0 2 0 0 2
KMT2E 0 2 0 0 2
LMNA 0 2 0 0 2
MAP2K2 0 1 1 0 2
MED13 0 0 2 0 2
MTOR 0 0 1 1 2
NAA10 0 1 1 0 2
NARS1 0 0 2 0 2
NOTCH1 0 0 2 0 2
NR2F1 0 2 0 0 2
OTOA 1 0 1 0 2
PMS2 0 1 1 0 2
PNPT1 0 0 2 0 2
POLE 0 0 2 0 2
PRKAR1B 0 0 2 0 2
PRKD1 0 1 1 0 2
PTEN 1 0 1 0 2
PTPRQ 0 0 2 0 2
PYGM 0 1 1 0 2
SATB2 1 1 0 0 2
SCN11A 0 0 2 0 2
SCN1A 0 1 1 0 2
SH3TC2 1 0 1 0 2
SHANK3 0 0 1 1 2
SLC12A2 0 0 2 0 2
SLC2A1 0 1 1 0 2
SMARCC2 0 1 1 0 2
SMARCD1 0 0 2 0 2
STAG1 0 0 2 0 2
SUPT16H 0 0 2 0 2
TBR1 1 0 1 0 2
TGM6 0 1 1 0 2
TPM1 0 1 1 0 2
TRIO 0 0 2 0 2
TRPS1 0 1 1 0 2
TYRP1 0 2 0 0 2
VPS13D 0 0 2 0 2
A3GALT2, AADACL3, AADACL4, ABCA4, ABCD3, ACADM, ACOT11, ACTL8, ADGRB2, ADGRL2, ADGRL4, ADPRS, AGBL4, AGL, AGMAT, AGO1, AGO3, AGO4, AGTRAP, AHDC1, AIRIM, AK2, AK4, AK5, AKIRIN1, AKR1A1, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALG14, ALG6, ALPL, ANGPTL3, ANGPTL7, ANKRD13C, ANKRD13C-DT, ARHGAP29, ARHGEF10L, ARHGEF19, ARID1A, ARMH1, ARTN, ASAP3, ASB17, ATG4C, ATP13A2, ATP5IF1, ATP6V0B, ATPAF1, AUNIP, AZIN2, B4GALT2, BARHL2, BCAR3, BCL10, BEND5, BEST4, BMP8A, BMP8B, BRDT, BSDC1, BSND, BTBD19, BTBD8, BTF3L4, C1QA, C1QB, C1QC, C1orf122, C1orf141, C1orf146, C1orf167, C1orf185, C1orf210, C1orf216, C1orf50, C1orf52, C1orf87, C1orf94, C8A, C8B, CACHD1, CAMK2N1, CAP1, CAPZB, CASP9, CASZ1, CATSPER4, CC2D1B, CCDC17, CCDC18, CCDC24, CCDC28B, CCDC30, CCN1, CD164L2, CD52, CDA, CDC14A, CDC20, CDC42, CDC7, CDCA8, CDCP2, CDKN2C, CELA2A, CELA2B, CELA3A, CELA3B, CENPS, CENPS-CORT, CEP85, CFAP107, CFAP144, CFAP57, CIMAP2, CIROZ, CITED4, CLCA1, CLCA2, CLCA4, CLCN6, CLCNKA, CLCNKB, CLDN19, CLIC4, CLSPN, CMPK1, CNKSR1, CNN3, CNR2, COA7, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, CORT, CPLANE2, CPT2, CROCC, CRYBG2, CRYZ, CSF3R, CSMD2, CTBS, CTH, CTPS1, CTRC, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CYP4X1, CYP4Z1, CZIB, DAB1, DBT, DCDC2B, DDAH1, DDI2, DDOST, DEPDC1, DFFA, DHCR24, DHDDS, DHRS3, DIO1, DIPK1A, DIRAS3, DISP3, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNAI3, DNAI4, DNAJB4, DNAJC16, DNAJC6, DNAJC8, DNALI1, DNASE2B, DNTTIP2, DOCK7, DPH2, DPH5, DPYD, DR1, DRAXIN, DYNLT4, DYNLT5, E2F2, EBNA1BP2, ECE1, ECHDC2, EDN2, EFCAB14, EFCAB7, EFHD2, EIF2B3, EIF3I, EIF4G3, ELAVL4, ELOA, ELOVL1, EMC1, EPB41, EPHA10, EPHA2, EPHA8, EPHB2, EPHX4, EPS15, ERI3, ERICH3, ERMAP, EVA1B, EVI5, EXO5, EXOSC10, EXTL1, EXTL2, EYA3, F3, FAAH, FABP3, FAF1, FAM110D, FAM131C, FAM151A, FAM167B, FAM229A, FAM43B, FAM76A, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FCN3, FGGY, FGR, FHAD1, FHL3, FNBP1L, FNDC5, FOXD2, FOXD3, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, FUBP1, FUCA1, FYB2, GADD45A, GALE, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GCLM, GFI1, GIPC2, GJA4, GJA9, GJB3, GJB4, GJB5, GLIS1, GLMN, GMEB1, GNG12, GNG5, GNL2, GPATCH3, GPBP1L1, GPN2, GPR3, GPR88, GPX7, GRHL3, GRIK3, GTF2B, GUCA2A, GUCA2B, HCRTR1, HDAC1, HECTD3, HEYL, HFM1, HIVEP3, HMGB4, HMGCL, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HOOK1, HP1BP3, HPCA, HPCAL4, HPDL, HS2ST1, HSPB7, HSPG2, HTR1D, HTR6, HYI, ID3, IFFO2, IFI44, IFI44L, IFI6, IFNLR1, IFT25, IGSF21, IL12RB2, IL22RA1, IL23R, INPP5B, INSL5, IPO13, IPP, IQCC, ITGB3BP, JAK1, JUN, KANK4, KAZN, KCNQ4, KDF1, KDM1A, KDM4A, KHDRBS1, KIAA0319L, KIAA0754, KIAA2013, KIF17, KIF1B, KIF2C, KLF17, KLHDC7A, KNCN, KPNA6, KTI12, KYAT3, L1TD1, LACTBL1, LAPTM5, LCK, LDLRAD1, LDLRAD2, LDLRAP1, LEPR, LEPROT, LHX8, LIN28A, LINC00853, LINC01783, LMO4, LOC101927434, LPAR3, LRP8, LRRC38, LRRC39, LRRC40, LRRC41, LRRC42, LRRC7, LRRC8B, LRRC8C, LRRC8D, LRRIQ3, LSM10, LURAP1, LUZP1, LYPLA2, MACF1, MACO1, MAD2L2, MAGOH, MAN1C1, MANEAL, MAP3K6, MAP7D1, MARCKSL1, MASP2, MAST2, MATN1, MCOLN2, MCOLN3, MDS2, MEAF6, MECR, MED18, MED8, MFAP2, MFN2, MFSD2A, MICOS10, MICOS10-NBL1, MIER1, MIGA1, MIIP, MIR101-1, MIR137, MIR30C1, MKNK1, MMACHC, MOB3C, MPL, MROH7, MRPL37, MRPS15, MRTO4, MSH4, MTF1, MTF2, MTFR1L, MTHFR, MTOR, MUL1, MUTYH, MYCBP, MYCL, MYOM3, MYSM1, NASP, NBL1, NBPF1, NBPF3, NCDN, NCMAP, NDC1, NDUFS5, NECAP2, NEGR1, NEGR1-IT1, NEXN, NFIA, NFYC, NHSL3, NIPAL3, NKAIN1, NPPA, NPPB, NR0B2, NRDC, NSUN4, NT5C1A, NUDC, ODF2L, OLFM3, OMA1, OPRD1, ORC1, OSBPL9, OSCP1, OTUD3, OXCT2, P3H1, PABPC4, PADI1, PADI2, PADI3, PADI4, PADI6, PAFAH2, PALMD, PAQR7, PARS2, PATJ, PAX7, PCSK9, PDE4B, PDIK1L, PDPN, PDZK1IP1, PEF1, PEX14, PGD, PGM1, PHACTR4, PHC2, PIGK, PIGV, PIK3R3, PINK1, PITHD1, PKN2, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PLEKHM2, PLK3, PLOD1, PLPP3, PLPPR4, PNRC2, PODN, POMGNT1, POU3F1, PPCS, PPIE, PPIH, PPP1R8, PPT1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDM2, PRDX1, PRKAA2, PRKACB, PRPF38A, PSMB2, PTAFR, PTBP2, PTCH2, PTGER3, PTGFR, PTP4A2, PTPRF, PTPRU, PUM1, RAB3B, RAB42, RABGGTB, RAD54L, RAP1GAP, RAVER2, RBBP4, RBMXL1, RCAN3, RCC1, RCC2, RHBDL2, RHCE, RHD, RIMKLA, RIMS3, RLF, RNF11, RNF186, RNF19B, RNF220, RNU1-4, ROR1, RPA2, RPAP2, RPE65, RPF1, RPL11, RPL5, RPS6KA1, RPS8, RRAGC, RSC1A1, RSPO1, RSRP1, RTCA, RUNX3, RWDD3, S100PBP, S1PR1, SAMD13, SASS6, SCMH1, SCP2, SDC3, SDHB, SELENOF, SELENON, SERBP1, SERINC2, SESN2, SF3A3, SFN, SFPQ, SGIP1, SH2D5, SH3BGRL3, SH3D21, SH3GLB1, SHISAL2A, SLC1A7, SLC25A34, SLC2A1, SLC30A2, SLC30A7, SLC35A3, SLC35D1, SLC44A3, SLC44A5, SLC5A9, SLC66A1, SLC6A9, SLC71A1, SLC9A1, SLFNL1, SMAP2, SMIM12, SMPDL3B, SNHG3, SNIP1, SNORA73A, SNORD21, SNRNP40, SNX7, SPATA1, SPATA21, SPATA6, SPEN, SPOCD1, SRARP, SRM, SRRM1, SRSF10, SRSF11, SRSF4, SSBP3, SSX2IP, ST3GAL3, ST6GALNAC3, ST6GALNAC5, STIL, STK40, STMN1, STPG1, STX12, SVBP, SYDE2, SYF2, SYNC, SYTL1, SZRD1, SZT2, TACSTD2, TAF12, TAL1, TARDBP, TAS1R2, TCEA3, TCEANC2, TEKT2, TENT5B, TESK2, TEX38, TEX46, TFAP2E, TGFBR3, THEMIS2, THRAP3, TIE1, TINAGL1, TLCD4, TM2D1, TMCO2, TMCO4, TMED5, TMEM125, TMEM200B, TMEM222, TMEM234, TMEM35B, TMEM39B, TMEM50A, TMEM51, TMEM53, TMEM54, TMEM59, TMEM61, TMEM69, TMEM82, TNFRSF1B, TNFRSF8, TNNI3K, TOE1, TRABD2B, TRAPPC3, TRE-TTC3-1, TRG-CCC1-1, TRIM62, TRIM63, TRIT1, TRMT13, TRNAU1AP, TRNP1, TRQ-CTG14-1, TSPAN1, TSSK3, TTC22, TTC39A, TTC4, TTLL7, TUT4, TXLNA, TXNDC12, TYW3, UBE2U, UBIAD1, UBR4, UBXN10, UBXN11, UQCRH, UROD, USP1, USP24, USP33, USP48, UTP11, VCAM1, VPS13D, VWA5B1, WASF2, WDTC1, WLS, WNT4, XKR8, YARS1, YBX1, YIPF1, YRDC, YTHDF2, ZBTB17, ZBTB40, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H12A, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF326, ZNF362, ZNF436, ZNF593, ZNF644, ZNF683, ZNF684, ZNF691, ZNHIT6, ZRANB2, ZRANB2-DT, ZSCAN20, ZSWIM5, ZYG11A, ZYG11B, ZZZ3 0 0 1 0 1
ABCA4, LOC126805793 0 0 1 0 1
ABCC8 0 0 1 0 1
ABCD1 0 1 0 0 1
ABHD12 0 0 1 0 1
ABHD12, ACSS1, ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, APMAP, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, C20orf141, C20orf202, C20orf96, CD93, CDC25B, CDS2, CENPB, CFAP61, CHGB, CPXM1, CRLS1, CRNKL1, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTL1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DZANK1, EBF4, ENTPD6, ESF1, FAM110A, FASTKD5, FERMT1, FKBP1A, FLRT3, FOXA2, GFRA4, GGTLC1, GINS1, GNRH2, GPCPD1, GZF1, HAO1, HSPA12B, IDH3B, INSM1, ISM1, ITPA, JAG1, KAT14, KIF16B, KIZ, LAMP5, LINC01597, LRRN4, LZTS3, MACROD2, MAVS, MCM8, MGME1, MIR103A2, MIR1292, MKKS, MRPS26, NAA20, NANP, NAPB, NDUFAF5, NINL, NKX2-2, NKX2-4, NOP56, NRSN2, NSFL1C, NXT1, OTOR, OVOL2, OXT, PAK5, PANK2, PAX1, PCED1A, PCNA, PCSK2, PDYN, PET117, PLCB1, PLCB4, POLR3F, PRND, PRNP, PROKR2, PSMF1, PTPRA, PYGB, RAD21L1, RALGAPA2, RASSF2, RBBP9, RBCK1, RIN2, RNF24, RRBP1, RSPO4, SCP2D1, SCRT2, SDCBP2, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SLC23A2, SLC24A3, SLC4A11, SLC52A3, SLX4IP, SMOX, SNAP25, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, SSTR4, STK35, SYNDIG1, TASP1, TBC1D20, TCF15, TGM3, TGM6, THBD, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TRIB3, TRMT6, UBOX5, VPS16, VSX1, XRN2, ZCCHC3, ZNF133, ZNF337, ZNF343 1 0 0 0 1
ABHD12, GINS1 0 0 1 0 1
ABHD4, ACIN1, ADCY4, AJUBA, AKAP6, ANG, AP1G2, AP4S1, ARF6, ARHGAP5, ARHGEF40, BAZ1A, BCL2L2, BCL2L2-PABPN1, BRMS1L, C14orf119, C14orf93, CARMIL3, CBLN3, CDH24, CEBPE, CFL2, CHD8, CHMP4A, CIDEB, CLEC14A, CMA1, CMTM5, COCH, CPNE6, CTSG, DAD1, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4L1, DHRS4L2, DNAAF2, DORIP1, DTD2, EAPP, EDDM3A, EDDM3B, EFS, EGLN3, EMC9, FAM177A1, FANCM, FBXO33, FITM1, FKBP3, FOXA1, FOXG1, FSCB, G2E3, GEMIN2, GMPR2, GPR33, GZMB, GZMH, HAUS4, HEATR5A, HECTD1, HNRNPC, HOMEZ, IL25, INSM2, IPO4, IRF9, JPH4, KHNYN, KLHDC1, KLHDC2, KLHL28, L2HGDH, LINC01588, LINC01599, LRFN5, LRP10, LRR1, LTB4R, LTB4R2, MBIP, MDGA2, MDP1, METTL17, METTL3, MGAT2, MIA2, MIPOL1, MIR208A, MIR208B, MIS18BP1, MMP14, MRPL52, MYH6, MYH7, NDRG2, NEDD8, NEDD8-MDP1, NEMF, NFATC4, NFKBIA, NGDN, NKX2-1, NKX2-8, NOP9, NOVA1, NPAS3, NRL, NUBPL, NYNRIN, OR10G2, OR10G3, OR4E2, OR5AU1, OXA1L, PABPN1, PAX9, PCK2, PNN, POLE2, PPP1R3E, PPP2R3C, PRKD1, PRMT5, PRORP, PRPF39, PSMA6, PSMB11, PSMB5, PSME1, PSME2, PTCSC3, RAB2B, RABGGTA, RALGAPA1, RBM23, REC8, REM2, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNF212B, RNF31, RPGRIP1, RPL10L, RPL36AL, RPS29, SALL2, SCFD1, SDR39U1, SEC23A, SFTA3, SLC22A17, SLC25A21, SLC39A2, SLC7A7, SLC7A8, SNX6, SOS2, SPTSSA, SRP54, SSTR1, STRN3, STXBP6, SUPT16H, TGM1, THTPA, TINF2, TM9SF1, TMEM253, TOGARAM1, TOX4, TPPP2, TRA, TRAPPC6B, TSSK4, TTC6, VCPKMT, ZFHX2, ZNF219 1 0 0 0 1
ABHD8, ANKLE1, ANO8, AP1M1, BABAM1, BST2, C19orf44, CALR3, CHERP, CIB3, COLGALT1, CPAMD8, CYP4F11, CYP4F2, DDA1, EPS15L1, F2RL3, FAM32A, FCHO1, GTPBP3, HAUS8, HSH2D, KLF2, MAP1S, MED26, MRPL34, MVB12A, MYO9B, NIBAN3, NR2F6, NWD1, NXNL1, OCEL1, OR10H4, PGLS, PGLS-DT, PLVAP, RAB8A, SIN3B, SLC27A1, SLC35E1, SMIM7, TMEM221, TMEM38A, TPM4, UNC13A, USE1, USHBP1 1 0 0 0 1
ACADVL 0 0 1 0 1
ACAN 1 0 0 0 1
ACOX1 0 1 0 0 1
ACP3, CPNE4, DNAJC13 0 0 1 0 1
ACTG1 0 1 0 0 1
ACTG2 1 0 0 0 1
ACTRT2, PRDM16, TTC34 0 0 1 0 1
ADAM9 0 1 0 0 1
ADGRV1 0 1 0 0 1
ADORA2A, BCR, C22orf15, CABIN1, CHCHD10, DDT, DDTL, DERL3, DRICH1, GGT1, GGT5, GGTLC2, GNAZ, GSTT1, GSTT2, GSTT2B, GUCD1, IGLC1, IGLL1, IGLL5, LRRC75B, MIF, MMP11, PIWIL3, RAB36, RGL4, RSPH14, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SUSD2, UPB1, VPREB3, ZNF70 0 1 0 0 1
ADRA2B, ASTL, DUSP2, GPAT2, STARD7, TMEM127 0 0 1 0 1
AFG1L, AK9, AMD1, ARMC2, ASCC3, ATG5, BEND3, CALHM4, CALHM5, CALHM6, CCN6, CD164, CDC40, CDK19, CEP57L1, COL10A1, CRYBG1, DDO, DSE, FAM229B, FIG4, FOXO3, FRK, FYN, GPR6, GRIK2, GTF3C6, HACE1, HDAC2, HS3ST5, KPNA5, LAMA4, LIN28B, MARCKS, METTL24, MFSD4B, MICAL1, MTRES1, NR2E1, NT5DC1, OSTM1, PDSS2, POPDC1, POPDC3, PPIL6, PRDM1, PREP, QRSL1, REV3L, RFPL4B, RPF2, RSPH4A, RTN4IP1, RWDD1, SCML4, SEC63, SESN1, SLC16A10, SLC22A16, SMPD2, SNX3, SOBP, TRAF3IP2, TRAPPC3L, TSPYL1, TSPYL4, TUBE1, WASF1, ZBTB24, ZUP1 1 0 0 0 1
AFG3L2 0 0 1 0 1
AGL 0 0 1 0 1
AGO2 0 1 0 0 1
AGPAT5, ANGPT2, ARHGEF10, BLK, C8orf74, CLDN23, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, DLGAP2, ERI1, ERICH1, FAM167A, FBXO25, KBTBD11, MCPH1, MFHAS1, MIR124-1, MSRA, MTMR9, MYOM2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, SPAG11A, SPAG11B, TDRP, TNKS, USP17L1, USP17L3, USP17L4, USP17L8, XKR5, XKR6, ZNF596, ZNF705B, ZNF705G 1 0 0 0 1
AGPAT5, ANGPT2, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, MCPH1, XKR5 0 1 0 0 1
AHCY, ASIP 0 0 1 0 1
AHRR, BRD9, CCDC127, CEP72, CLPTM1L, EXOC3, IRX4, LPCAT1, LRRC14B, MRPL36, NDUFS6, NKD2, PDCD6, PLEKHG4B, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 0 0 1 0 1
AKR1A1, MMACHC, PRDX1, TESK2 0 0 1 0 1
ALOX5, MARCHF8, OR13A1 0 0 1 0 1
AMER1 0 0 1 0 1
AMFR, CAPNS2, CES1, CES5A, GNAO1, IRX6, LPCAT2, MMP2, SLC6A2 1 0 0 0 1
ANK2 0 0 1 0 1
ANKRD11 0 1 0 0 1
ANKRD17 0 1 0 0 1
ANKRD36C, FAHD2A, GPAT2, KCNIP3, PROM2, TRIM43, TRIM43B 0 0 1 0 1
ANXA11 0 0 1 0 1
AP2M1 0 0 0 1 1
APOB 0 0 1 0 1
APP 0 0 1 0 1
ARFGEF3 0 0 1 0 1
ARG2, RDH11, RDH12, VTI1B, ZFYVE26 0 0 1 0 1
ARHGAP10, EDNRA, PRMT9, TMEM184C 0 0 1 0 1
ARHGAP23, GPR179, MRPL45, SOCS7, TBC1D3, TBC1D3F 0 0 1 0 1
ARSD, ARSH, ARSL, GYG2 0 0 1 0 1
ASH1L 0 1 0 0 1
ASPM 1 0 0 0 1
ASXL3 0 1 0 0 1
ATAD3A 0 0 1 0 1
ATIC, FN1 0 1 0 0 1
ATN1, ENO2 0 0 1 0 1
ATOH1 0 0 1 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L6, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, OR4M2, OR4N4, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 1
ATP11A 0 0 1 0 1
ATP13A2 0 0 1 0 1
ATP1A1 0 1 0 0 1
ATP2B1 0 0 1 0 1
ATRX 0 0 1 0 1
ATXN7L3, UBTF 0 0 1 0 1
AXIN1 1 0 0 0 1
B3GLCT 1 0 0 0 1
BAG3 0 1 0 0 1
BAG3, INPP5F 0 0 0 1 1
BARD1 0 0 1 0 1
BBS7 0 0 1 0 1
BCAS3 0 0 1 0 1
BCKDK 0 0 1 0 1
BDNF 0 1 0 0 1
BEST1 0 0 1 0 1
BICRA 0 0 1 0 1
BLM 1 0 0 0 1
BRRIAR, ITPR1 0 0 1 0 1
BRSK2 0 0 1 0 1
C1QTNF5, MFRP 1 0 0 0 1
C1R 0 0 1 0 1
C1S 0 0 1 0 1
C2orf72, CAB39, DNER, FBXO36, GPR55, HTR2B, ITM2C, PSMD1, SLC16A14, SP100, SP110, SP140, SP140L, SPATA3, TRIP12 0 0 1 0 1
C7orf76, DLX5, DLX6, SDHAF3, SEM1, SLC25A13 0 1 0 0 1
C8orf17, TRAPPC9 0 0 1 0 1
C8orf74, MIR124-1, MSRA, PINX1, PRSS51, PRSS55, RP1L1, SOX7, TNKS, XKR6 0 0 1 0 1
CACNA1A 0 0 1 0 1
CACNA1A, LOC126862864 0 0 1 0 1
CACNA1D 0 0 1 0 1
CACNA1I 0 0 1 0 1
CAMK2A 0 0 1 0 1
CAMK2B 0 0 1 0 1
CAMTA2 0 0 1 0 1
CANX, CBY3, LTC4S, MAML1, MGAT4B, MRNIP, RASGEF1C, RNF130, SPATA31J1, SQSTM1, TBC1D9B 0 0 1 0 1
CASK 0 1 0 0 1
CASQ1 0 0 1 0 1
CATSPER2, CKMT1A, CKMT1B, PPIP5K1, STRC 0 0 1 0 1
CCDC125, CCNB1, CDK7, CENPH, GTF2H2, GTF2H2C, KGD4, MARVELD2, NAIP, OCLN, RAD17, SERF1A, SERF1B, SLC30A5, SMN1, SMN2, TAF9 0 0 1 0 1
CCDC50 0 1 0 0 1
CDH23 0 1 0 0 1
CDK10 0 1 0 0 1
CDK19, DDO, SLC22A16 0 0 1 0 1
CELF2 0 0 1 0 1
CENPC, GNRHR, STAP1, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UGT2B15, UGT2B17, YTHDC1 0 0 1 0 1
CEP85L, PLN 0 0 1 0 1
CHD1 0 1 0 0 1
CHD3, NAA38 0 0 1 0 1
CHD4 0 1 0 0 1
CHEK2 0 0 1 0 1
CHM, LOC129391306 1 0 0 0 1
CHMP1A, CPNE7, DPEP1, SPATA33 0 0 1 0 1
CLCN4 0 0 1 0 1
CLCN6 0 0 1 0 1
CLEC3A, VAT1L, WWOX 0 0 0 1 1
CLTC 0 1 0 0 1
CNTNAP5 0 0 1 0 1
COG4 0 0 1 0 1
COL11A1, OLFM3 0 0 1 0 1
COL11A2 0 1 0 0 1
COL4A3 0 0 0 1 1
COL6A1 0 0 1 0 1
COL6A3 0 0 1 0 1
COL6A3, ESPNL, KLHL30, LRRFIP1, MLPH, PRLH, RAB17, RAMP1, RBM44, SCLY, UBE2F 0 0 1 0 1
COL6A3, LOC126806573 0 0 1 0 1
COL9A1 0 0 1 0 1
COLQ 0 1 0 0 1
COQ2 0 0 1 0 1
CPAP, RNF17 1 0 0 0 1
CPPED1, SHISA9, SNX29 0 0 1 0 1
CREBBP 0 0 1 0 1
CRYBB2 0 1 0 0 1
CSF1R 0 1 0 0 1
CTNNA3 0 0 1 0 1
CTNNB1 0 1 0 0 1
CTNNB1, LOC126806658 0 1 0 0 1
CUL3 1 0 0 0 1
CYLD 0 1 0 0 1
CYP19A1, MIR4713HG, PIRC66 0 0 1 0 1
CYP3A4 0 0 1 0 1
CYP7B1 0 0 1 0 1
DDX6 0 0 1 0 1
DEPDC5 0 1 0 0 1
DHDDS 0 0 1 0 1
DHX30 1 0 0 0 1
DIAPH3 0 0 1 0 1
DIP2C 0 1 0 0 1
DLG2 0 0 1 0 1
DLGAP1 0 0 1 0 1
DLL1, LOC126859913 0 0 1 0 1
DLX3 0 0 1 0 1
DMD 0 0 1 0 1
DMRT1, DMRT2, DMRT3, KANK1 0 0 1 0 1
DNAJC13 0 0 1 0 1
DNMT3A 1 0 0 0 1
DPAGT1, LOC126861360 0 0 1 0 1
DPY19L1 0 0 1 0 1
DSCAM, PCP4 0 0 1 0 1
EDAR, RANBP2 0 1 0 0 1
EIF2AK2 0 0 1 0 1
EIF3F 0 1 0 0 1
EIF4G1 0 0 1 0 1
ELOVL5 0 0 1 0 1
EPHB4 0 0 1 0 1
ERBB4 0 0 1 0 1
ERC1 0 1 0 0 1
EYA1 1 0 0 0 1
EYA2, ZMYND8 0 0 1 0 1
EZH2 0 1 0 0 1
FA2H 0 0 1 0 1
FA2H, LOC130059394 0 1 0 0 1
FAT4 1 0 0 0 1
FBLN5 0 0 1 0 1
FBN2 0 0 1 0 1
FBP2 0 0 1 0 1
FBXW11 0 0 1 0 1
FERRY3, FGF23, FGF6, TIGAR 0 0 1 0 1
FEZF2 0 1 0 0 1
FGB 0 1 0 0 1
FGFR3 0 1 0 0 1
FHL1 0 0 1 0 1
FHL5, FUT9, GPR63, MANEA, UFL1 0 1 0 0 1
FLNA, LOC107988032 0 0 1 0 1
FLNC 0 0 1 0 1
FOXRED1, LOC130007026 0 0 1 0 1
FRMD5 0 0 1 0 1
FUS 0 0 1 0 1
GAA 0 1 0 0 1
GABRA1 0 0 1 0 1
GABRA3 0 0 1 0 1
GATA3 0 1 0 0 1
GBF1 0 0 1 0 1
GCK 0 1 0 0 1
GDF11 0 0 1 0 1
GFAP 0 0 1 0 1
GFPT2, MAPK9, RASGEF1C 0 0 1 0 1
GJB1 0 1 0 0 1
GJB3 0 0 1 0 1
GJB4 0 0 1 0 1
GLI2 1 0 0 0 1
GLI3 1 0 0 0 1
GLI3, INHBA 1 0 0 0 1
GLRA1 1 0 0 0 1
GLUL, LOC126805944 0 0 1 0 1
GMDS 0 0 1 0 1
GNAI1 1 0 0 0 1
GNAL 0 0 1 0 1
GNAS 0 1 0 0 1
GNPTAB 0 0 1 0 1
GPC5 0 0 1 0 1
GPHN 0 0 1 0 1
GPHN, PALS1 0 0 1 0 1
GRID2 0 0 1 0 1
GRIN1 0 0 1 0 1
GRIN2A 0 0 1 0 1
GRIN2D 0 0 1 0 1
GTF2H2C, MARVELD2, NAIP, OCLN, RAD17, SERF1A, SERF1B, SMN1, SMN2 0 0 0 1 1
GTF3A, MTIF3 0 0 1 0 1
H1-4 1 0 0 0 1
H3-3B 0 1 0 0 1
HAO1, TMX4 0 0 1 0 1
HCCS 0 0 1 0 1
HCFC1 0 0 1 0 1
HEPACAM 0 1 0 0 1
HERC2 0 0 1 0 1
HGSNAT 0 1 0 0 1
HNF1A, SPPL3 0 0 1 0 1
HPRT1 0 0 1 0 1
HUWE1 0 0 1 0 1
HUWE1, MIR98, MIRLET7F2 0 0 1 0 1
HYMAI, PLAGL1, SF3B5, STX11, UTRN 0 0 1 0 1
IFT172 0 0 1 0 1
IFT74 1 0 0 0 1
IMPG1 0 0 1 0 1
INF2 0 1 0 0 1
IRAK1BP1, PHIP 0 0 1 0 1
ITPR1 0 1 0 0 1
ITSN1 0 0 1 0 1
JARID2 0 0 1 0 1
KANSL1 1 0 0 0 1
KAT6A 0 0 1 0 1
KBTBD13 0 0 1 0 1
KCNA1 0 1 0 0 1
KCNA5 0 0 1 0 1
KCNE2, LOC105372791 0 0 1 0 1
KCNJ1 0 1 0 0 1
KCNJ6 0 0 1 0 1
KCNMA1 0 0 1 0 1
KCNN3 0 0 1 0 1
KCNQ1 0 0 1 0 1
KCNQ3 0 0 1 0 1
KCNV2 0 1 0 0 1
KDM5B 0 1 0 0 1
KDM6B 1 0 0 0 1
KIAA1549 0 1 0 0 1
KIDINS220 1 0 0 0 1
KIF11 0 1 0 0 1
KIF14 0 1 0 0 1
KIF16B 0 0 1 0 1
KIF1A 0 0 1 0 1
KIF22 0 0 1 0 1
KMT2B 0 0 1 0 1
KMT2C 0 0 1 0 1
KMT5B 1 0 0 0 1
KREMEN1 0 0 1 0 1
L1CAM 0 1 0 0 1
LAMA2 0 1 0 0 1
LDB3 0 0 1 0 1
LGI1 0 1 0 0 1
LINGO1 0 0 1 0 1
LMX1A 1 0 0 0 1
LMX1B 1 0 0 0 1
LOC105378311, PCDH15 0 0 1 0 1
LOC109611589, RUNX2 0 1 0 0 1
LOC112840921, OTOF 0 1 0 0 1
LOC126806423, TTN 0 1 0 0 1
LOC126806462, SATB2 0 1 0 0 1
LOC126861898, MYH7 0 1 0 0 1
LOC126863188, SHANK3 0 1 0 0 1
LOC130009445, POLR1D 0 0 1 0 1
LOC130059892, SERPINF1 0 0 1 0 1
LOC130065680, SNTA1 0 0 1 0 1
LOC130068281, SYP 0 1 0 0 1
LRP4 0 1 0 0 1
LRSAM1 0 1 0 0 1
LZTR1 0 0 1 0 1
MACF1 0 0 1 0 1
MAF 0 0 1 0 1
MAPK10 0 0 0 1 1
MBD5 0 0 1 0 1
MC4R 1 0 0 0 1
MED13L 1 0 0 0 1
MET 0 0 1 0 1
MFN2 0 0 1 0 1
MFSD8 1 0 0 0 1
MIP 0 0 1 0 1
MITF 0 0 1 0 1
MLH1 0 0 1 0 1
MN1 0 1 0 0 1
MPZ 1 0 0 0 1
MRGPRX3, MRGPRX4, SAA2, SAA2-SAA4, SAA4, SAAL1, SERGEF, TPH1 0 0 0 1 1
MSC, TRPA1 0 0 1 0 1
MSH6 1 0 0 0 1
MTR 0 0 1 0 1
MUTYH 0 1 0 0 1
MYBPC1 0 0 1 0 1
MYBPC3 0 1 0 0 1
MYH14 0 0 1 0 1
MYH2, MYHAS 0 0 1 0 1
MYH6 0 0 0 1 1
MYH7B 0 0 1 0 1
MYH9 0 0 0 1 1
MYLK 0 0 1 0 1
MYO15A 0 1 0 0 1
MYOD1 0 0 1 0 1
MYT1L 1 0 0 0 1
NALCN 0 1 0 0 1
NBEA 0 0 1 0 1
NCAPG2 0 0 1 0 1
NCL 0 0 1 0 1
NEB, RIF1 0 0 1 0 1
NEDD4L 0 0 1 0 1
NEFH 0 1 0 0 1
NEFL 0 0 1 0 1
NEO1 0 0 1 0 1
NEUROD2 0 0 1 0 1
NEXMIF 0 0 1 0 1
NFIA 0 1 0 0 1
NIPA1 0 0 1 0 1
NIPBL 0 0 0 1 1
NKX2-1, SFTA3 1 0 0 0 1
NLGN4X 0 0 1 0 1
NONO, ZMYM3 0 0 1 0 1
NOTCH3 0 0 1 0 1
NPR2, SPAG8 0 1 0 0 1
NR4A2 0 0 1 0 1
NR5A1 0 1 0 0 1
NRAS 0 0 1 0 1
NT5E, SNHG5, SNORD50A, SNORD50B, SNX14, SYNCRIP 0 0 1 0 1
OBI1, POU4F1 0 0 1 0 1
OCIAD1, OCIAD2 0 0 1 0 1
OFD1 0 1 0 0 1
OPA1 1 0 0 0 1
OPN1LW 0 1 0 0 1
P2RX2 0 0 1 0 1
PAFAH1B1 0 0 1 0 1
PAX6 0 0 1 0 1
PCDH12, RNF14 0 1 0 0 1
PDCD10 0 0 1 0 1
PDE11A 0 0 1 0 1
PDE6A 0 0 1 0 1
PDGFRB 0 0 1 0 1
PDK3 0 0 1 0 1
PEX6 0 1 0 0 1
PEX7 0 0 1 0 1
PGAP3 1 0 0 0 1
PHF21A 0 0 1 0 1
PIGV 0 0 1 0 1
PKD2 0 1 0 0 1
PKP2 0 1 0 0 1
PLCG2 0 0 1 0 1
PMP22 1 0 0 0 1
PNPLA4, PUDP, STS, VCX 0 0 1 0 1
PNPLA4, PUDP, STS, VCX, VCX2, VCX3A 0 0 0 1 1
POLG 0 0 1 0 1
POLR2F, SOX10 0 1 0 0 1
POLRMT 0 0 1 0 1
POU3F4 1 0 0 0 1
POU4F3, RBM27-POU4F3 0 0 1 0 1
PPP2R1A 0 0 1 0 1
PPP3CA 0 0 1 0 1
PQBP1 0 0 1 0 1
PRKACB, TTLL7 0 0 0 1 1
PRKCG 0 1 0 0 1
PRKN 0 1 0 0 1
PROK2 0 1 0 0 1
PRPF3 0 0 1 0 1
PRPF31 0 1 0 0 1
PRX 1 0 0 0 1
PTCH1 0 1 0 0 1
PTCHD1 0 0 1 0 1
PTPRJ 0 0 1 0 1
PUF60 0 0 1 0 1
QRICH1 0 1 0 0 1
RAB39B 0 0 1 0 1
RAD50 0 1 0 0 1
RBM20 0 1 0 0 1
RDX 0 0 1 0 1
RELA 0 1 0 0 1
RELN 0 0 1 0 1
RERE 0 0 1 0 1
RFX3 0 0 1 0 1
RHO 0 0 1 0 1
RHOA 1 0 0 0 1
RNF43 0 1 0 0 1
RORA 0 0 1 0 1
RP1L1 0 0 1 0 1
RP2 0 0 1 0 1
RPE65 0 0 1 0 1
RPL10 0 0 1 0 1
RUNX2 0 0 1 0 1
RYR2 0 0 1 0 1
SCN5A 0 0 1 0 1
SCN8A 0 1 0 0 1
SEC24C 0 1 0 0 1
SEMA5A 0 0 1 0 1
SERPINF1 0 0 1 0 1
SETD2 0 0 1 0 1
SETX 0 0 1 0 1
SIN3B 0 0 1 0 1
SLC1A3 0 0 1 0 1
SLC20A2 0 0 1 0 1
SLC38A8 0 0 1 0 1
SLC6A8 1 0 0 0 1
SMAD6 0 1 0 0 1
SMARCA1 0 0 1 0 1
SMC1A 0 0 0 1 1
SMCHD1 0 0 1 0 1
SNCA 0 0 1 0 1
SON 0 1 0 0 1
SOS1 0 0 1 0 1
SOX2, SOX2-OT 0 0 1 0 1
SPTBN2 0 0 1 0 1
SRRM2 0 1 0 0 1
STAG2 1 0 0 0 1
STXBP1 0 0 1 0 1
SYNE1 1 0 0 0 1
SYNE2 0 0 0 1 1
SYNPR 0 0 1 0 1
TAFAZZIN 0 1 0 0 1
TAOK1 0 0 1 0 1
TASP1 0 0 1 0 1
TBCK 0 1 0 0 1
TBX18 0 0 1 0 1
TCF4 0 0 0 1 1
TFAP2A 0 1 0 0 1
TGFB2 0 0 1 0 1
TMEM126A 0 0 1 0 1
TMEM163 0 0 1 0 1
TMPRSS3 0 0 1 0 1
TNFAIP3 0 1 0 0 1
TNXB 0 0 1 0 1
TOGARAM1 0 1 0 0 1
TP63 0 1 0 0 1
TPM2 0 0 1 0 1
TRPM3 0 0 1 0 1
TRPM4 0 0 1 0 1
TSC1 1 0 0 0 1
TSC2 1 0 0 0 1
TSEN54 0 1 0 0 1
TTN 0 1 0 0 1
TUBB2B 0 1 0 0 1
TUBB3 0 0 1 0 1
TUBB4A 0 0 1 0 1
TWNK 0 0 1 0 1
TYR 0 1 0 0 1
UPF3B 0 0 1 0 1
UROD 0 0 1 0 1
USP27X 0 1 0 0 1
USP48 0 0 1 0 1
USP9X 0 1 0 0 1
WDFY3 0 0 1 0 1
WDR45 1 0 0 0 1
WDR62 0 0 1 0 1
ZBTB20 0 1 0 0 1
ZFYVE26 0 1 0 0 1
ZMIZ1 0 1 0 0 1
ZMYM3 0 1 0 0 1
ZNF423 0 0 1 0 1
ZSWIM6 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 584
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
See cases 0 0 13 0 13
Intellectual disability 0 0 12 0 12
not provided 4 0 8 0 12
not specified 0 0 7 3 10
Global developmental delay 1 1 5 2 9
Kabuki syndrome 1 4 3 2 0 9
Coffin-Siris syndrome 1 2 2 3 0 7
Sotos syndrome 1 5 0 1 7
CHARGE syndrome 3 2 1 0 6
Familial cancer of breast 0 2 4 0 6
Hearing loss, autosomal dominant 37 0 1 5 0 6
Central core myopathy 0 2 2 0 4
Choroideremia 2 1 1 0 4
Delayed speech and language development 0 1 2 1 4
Developmental and epileptic encephalopathy, 11 0 1 3 0 4
Hereditary spastic paraplegia 4 0 2 2 0 4
Intellectual disability, autosomal dominant 46 0 0 4 0 4
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 3 0 4
Neurofibromatosis, type 1 2 0 2 0 4
Optic atrophy 9 0 2 2 0 4
Usher syndrome type 2A 1 2 0 1 4
Autosomal dominant nonsyndromic hearing loss 12 0 1 2 0 3
Bethlem myopathy 1A 0 0 3 0 3
Bone mineral density quantitative trait locus 1 0 0 3 0 3
CBL-related disorder 0 1 2 0 3
Chromosome 2q32-q33 deletion syndrome 1 2 0 0 3
Cornelia de Lange syndrome 3 0 0 3 0 3
Cornelia de Lange syndrome 5 0 2 1 0 3
Global developmental delay with speech and behavioral abnormalities 0 2 1 0 3
Intellectual developmental disorder with autism and macrocephaly 0 3 0 0 3
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 2 0 3
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 1 1 0 3
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 1 2 0 3
Lissencephaly due to TUBA1A mutation 1 2 0 0 3
Marfan syndrome 0 0 3 0 3
Microcephaly; Intellectual disability 1 2 0 0 3
Nicolaides-Baraitser syndrome 0 1 2 0 3
Osteogenesis imperfecta type I 1 1 1 0 3
Periventricular nodular heterotopia 9 0 0 3 0 3
Phelan-McDermid syndrome 0 1 1 1 3
Snijders Blok-Campeau syndrome 0 0 3 0 3
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 2 0 3
Tall stature; Intellectual disability; Hypotonia 0 0 3 0 3
Telangiectasia, hereditary hemorrhagic, type 1 1 1 1 0 3
Wiedemann-Steiner syndrome 1 1 1 0 3
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 1 0 2
Ataxia-telangiectasia syndrome 0 1 1 0 2
Au-Kline syndrome 0 0 2 0 2
Autism 0 0 2 0 2
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 22 1 0 1 0 2
Autosomal recessive nonsyndromic hearing loss 42 0 0 2 0 2
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 2 0 0 2
Brain-lung-thyroid syndrome 2 0 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 2 0 1 1 0 2
Cardiofaciocutaneous syndrome 1 1 0 1 0 2
Cardiofaciocutaneous syndrome 4 0 1 1 0 2
Carpal tunnel syndrome 2 0 0 2 0 2
Cerebellar ataxia; Intellectual disability 1 0 0 1 2
Charcot-Marie-Tooth disease type 4C 1 0 1 0 2
Charcot-Marie-Tooth disease type 4H 0 1 1 0 2
Cleidocranial dysostosis 0 1 1 0 2
Coffin-Siris syndrome 11 0 0 2 0 2
Coffin-Siris syndrome 8 0 1 1 0 2
Colorectal cancer, susceptibility to, 12 0 0 2 0 2
Congenital heart defects and ectodermal dysplasia 0 1 1 0 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 1 0 2
Congenital muscular dystrophy with cataracts and intellectual disability 0 0 2 0 2
DYRK1A-related intellectual disability syndrome 1 1 0 0 2
Developmental and epileptic encephalopathy 104; Neurodevelopmental disorder with epilepsy and brain atrophy 0 0 2 0 2
Developmental and epileptic encephalopathy 92 0 1 1 0 2
Developmental and epileptic encephalopathy 93 0 0 0 2 2
Developmental and epileptic encephalopathy 94 0 1 1 0 2
Developmental and epileptic encephalopathy, 42 0 0 2 0 2
Developmental and epileptic encephalopathy, 5 0 2 0 0 2
Developmental and epileptic encephalopathy, 67 0 1 1 0 2
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 2 0 2
Dias-Logan syndrome 1 0 1 0 2
Diets-Jongmans syndrome 0 0 2 0 2
Dilated cardiomyopathy 1II 0 0 2 0 2
Ehlers-Danlos syndrome, type 4 1 0 1 0 2
Exostoses, multiple, type 1 0 1 1 0 2
Familial adenomatous polyposis 1 1 0 1 0 2
Familial episodic pain syndrome with predominantly lower limb involvement 0 0 2 0 2
Glycogen storage disease, type V 0 1 1 0 2
Greig cephalopolysyndactyly syndrome 2 0 0 0 2
Growth delay due to insulin-like growth factor I resistance 0 1 1 0 2
Hearing loss, autosomal dominant 75 0 0 2 0 2
Hereditary spastic paraplegia 10 0 1 1 0 2
Hereditary spastic paraplegia 35 0 1 1 0 2
Hereditary spastic paraplegia 50 0 2 0 0 2
Hereditary spastic paraplegia 7 0 0 2 0 2
Hereditary spastic paraplegia 73 0 1 1 0 2
Intellectual developmental disorder 61 0 0 2 0 2
Intellectual developmental disorder with autism and speech delay 1 0 1 0 2
Intellectual disability, autosomal dominant 47 0 0 2 0 2
Kleefstra syndrome 1 0 1 1 0 2
Long QT syndrome 2 0 2 0 0 2
Lynch syndrome 1 0 0 2 0 2
Lynch syndrome 4 0 1 1 0 2
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 1 1 2
Marbach-Schaaf neurodevelopmental syndrome 0 0 2 0 2
Meier-Gorlin syndrome 1 0 1 1 0 2
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 2 0 2
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 2 0 0 2
Myopathy 0 0 2 0 2
Neurodevelopmental delay 0 0 2 0 2
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 2 0 2
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 0 2 0 2
Neuronopathy, distal hereditary motor, type 7B 0 0 2 0 2
O'Donnell-Luria-Rodan syndrome 0 2 0 0 2
Oculocutaneous albinism type 3 0 2 0 0 2
Oculomotor apraxia 1 0 0 1 2
Ogden syndrome 0 1 1 0 2
Osteoporosis 0 0 2 0 2
PERCHING syndrome 0 2 0 0 2
Parenti-mignot neurodevelopmental syndrome 0 1 1 0 2
Pontocerebellar hypoplasia, type 1C 0 2 0 0 2
Premature ovarian failure 3 0 1 1 0 2
Rajab interstitial lung disease with brain calcifications 2 0 0 2 0 2
Retinitis pigmentosa 83 0 0 2 0 2
Seizure 1 0 1 0 2
Severe intellectual disability-progressive spastic diplegia syndrome 0 2 0 0 2
Shukla-Vernon syndrome 0 0 2 0 2
Spastic tetraparesis 0 0 2 0 2
Spinocerebellar ataxia 47 0 0 2 0 2
Spinocerebellar ataxia type 35 0 1 1 0 2
Spinocerebellar ataxia type 42 0 0 2 0 2
Telangiectasia, hereditary hemorrhagic, type 2 0 2 0 0 2
Trichorhinophalangeal dysplasia type I 0 1 1 0 2
Usher syndrome type 1 0 2 0 0 2
Vissers-Bodmer syndrome 0 0 2 0 2
X-linked Alport syndrome 0 1 1 0 2
X-linked intellectual disability Cabezas type 0 1 1 0 2
11p partial monosomy syndrome 0 0 1 0 1
3-Methylglutaconic aciduria type 2 0 1 0 0 1
8q24.3 microdeletion syndrome 0 0 1 0 1
ATN1 deletion 0 0 1 0 1
Acroosteolysis-keloid-like lesions-premature aging syndrome 0 0 1 0 1
Acyl-CoA oxidase deficiency 0 1 0 0 1
Adrenoleukodystrophy 0 1 0 0 1
Al Kaissi syndrome 0 1 0 0 1
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 1 0 1
Alexander disease 0 0 1 0 1
Alternating hemiplegia of childhood 1 0 0 1 0 1
Amyotrophic lateral sclerosis type 23 0 0 1 0 1
Amyotrophic lateral sclerosis type 4 0 0 1 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 0 0 1 0 1
Anophthalmia; Hypergonadotropic hypogonadism 0 0 1 0 1
Anophthalmia; Renal agenesis 0 0 1 0 1
Anophthalmia; Renal hypoplasia/aplasia 0 0 1 0 1
Aortic aneurysm, familial thoracic 7 0 0 1 0 1
Aortic valve disease 1 0 0 1 0 1
Aortic valve disease 1; Adams-Oliver syndrome 5 0 0 1 0 1
Aortic valve disease 2 0 1 0 0 1
Aortic valve stenosis 0 0 1 0 1
Aromatase deficiency 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 2 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 9 0 1 0 0 1
Arthrogryposis, distal, type 1A 0 0 1 0 1
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset 0 0 1 0 1
Atrial fibrillation, familial, 7 0 0 1 0 1
Attention deficit hyperactivity disorder 0 0 1 0 1
Atypical Rett syndrome 0 0 1 0 1
Autism, susceptibility to, X-linked 2 0 0 1 0 1
Autism, susceptibility to, X-linked 4 0 0 1 0 1
Autistic behavior; Seizure 0 0 1 0 1
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 1 0 1
Autoinflammatory syndrome, familial, Behcet-like 1 0 1 0 0 1
Autosomal dominant auditory neuropathy 1 0 0 1 0 1
Autosomal dominant centronuclear myopathy 0 0 1 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 0 0 1 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 13 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 15 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 17 0 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 20 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 41 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 44 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 4A 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 7 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 9 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 9; Hearing loss, autosomal recessive 110 0 0 1 0 1
Autosomal dominant optic atrophy classic form 1 0 0 0 1
Autosomal recessive ataxia, Beauce type 1 0 0 0 1
Autosomal recessive juvenile Parkinson disease 2 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 12 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 23 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 24 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 3 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 8 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 84A 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 9 0 1 0 0 1
Autosomal recessive optic atrophy, OPA7 type 0 0 1 0 1
Avascular necrosis of femoral head, primary, 1 0 0 1 0 1
Ayme-Gripp syndrome 0 0 1 0 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 0 0 0 1
Baraitser-Winter syndrome 1 0 0 1 0 1
Bardet-Biedl syndrome 7 0 0 1 0 1
Bartter disease type 2 0 1 0 0 1
Basal cell nevus syndrome 1 0 1 0 0 1
Basal cell nevus syndrome 2 0 1 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 0 0 0 1
Blepharophimosis; Ptosis; Hemangioma; Abnormal facial shape 0 0 1 0 1
Bloom syndrome 1 0 0 0 1
Brain abnormalities, neurodegeneration, and dysosteosclerosis 0 1 0 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 0 1
Branchiooculofacial syndrome 0 1 0 0 1
Branchiootorenal syndrome 1 1 0 0 0 1
Brooke-Spiegler syndrome 0 1 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 2 0 1 0 0 1
CEBALID syndrome 0 1 0 0 1
CNTNAP5-associated intellectual disability 0 0 1 0 1
Capillary malformation-arteriovenous malformation 2 0 0 1 0 1
Cardiac arrhythmia, ankyrin-B-related 0 0 1 0 1
Cardiac valvular dysplasia, X-linked 0 0 1 0 1
Cataract 15 multiple types 0 0 1 0 1
Cataract 3 multiple types 0 1 0 0 1
Cenani-Lenz syndactyly syndrome 0 1 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 1 0 1
Cerebral amyloid angiopathy, APP-related 0 0 1 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 0 1 0 1
Cerebral cavernous malformation 3 0 0 1 0 1
Charcot-Marie-Tooth Disease, axonal, type 2GG 0 0 1 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 6 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2C 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2O 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2P 0 1 0 0 1
Charcot-Marie-Tooth disease dominant intermediate B 0 0 1 0 1
Charcot-Marie-Tooth disease dominant intermediate E 0 1 0 0 1
Charcot-Marie-Tooth disease type 1E; Dejerine-Sottas disease 1 0 0 0 1
Charcot-Marie-Tooth disease type 2A2 0 0 1 0 1
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Neuropathy, congenital hypomyelinating, 2 1 0 0 0 1
Charcot-Marie-Tooth disease, dominant intermediate G 0 0 1 0 1
Charcot-Marie-tooth disease, axonal, type 2DD 0 1 0 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 0 0 1 0 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 0 1 0 1
Chopra-Amiel-Gordon syndrome 0 1 0 0 1
Chromosome 1p32-p31 deletion syndrome 0 1 0 0 1
Coenzyme Q10 deficiency, primary, 1 0 0 1 0 1
Coffin-Siris syndrome 12 0 0 1 0 1
Cognitive impairment with or without cerebellar ataxia 0 1 0 0 1
Cognitive impairment; Delayed speech and language development 0 0 1 0 1
Colorectal cancer, hereditary nonpolyposis, type 2 0 0 1 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 0 1 0 0 1
Combined oxidative phosphorylation defect type 13 0 0 1 0 1
Combined oxidative phosphorylation deficiency 55 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 1 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 7 0 1 0 0 1
Cone dystrophy with supernormal rod response 0 1 0 0 1
Cone-rod dystrophy 2 0 0 1 0 1
Cone-rod dystrophy 9 0 1 0 0 1
Congenital brain dysgenesis due to glutamine synthetase deficiency 0 0 1 0 1
Congenital heart defects, multiple types, 7 0 0 1 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 0 1 1
Congenital myasthenic syndrome 13 0 0 1 0 1
Congenital myasthenic syndrome 5 0 1 0 0 1
Congenital stationary night blindness autosomal dominant 1 0 0 1 0 1
Craniometadiaphyseal osteosclerosis with hip dysplasia 1 0 0 0 1
Creatine transporter deficiency 1 0 0 0 1
De Lange syndrome 0 0 0 1 1
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 0 1 0 0 1
Dejerine-Sottas disease 1 0 0 0 1
Delayed speech and language development; Intellectual disability 0 0 0 1 1
Delpire-McNeill syndrome 0 0 1 0 1
Developmental and epileptic encephalopathy 0 1 0 0 1
Developmental and epileptic encephalopathy 6B 0 0 1 0 1
Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 0 0 1 0 1
Developmental and epileptic encephalopathy 97 0 0 1 0 1
Developmental and epileptic encephalopathy, 24 0 0 1 0 1
Developmental and epileptic encephalopathy, 27 0 0 1 0 1
Developmental and epileptic encephalopathy, 4 0 0 1 0 1
Developmental and epileptic encephalopathy, 46 0 0 1 0 1
Developmental and epileptic encephalopathy, 7 0 1 0 0 1
Developmental and epileptic encephalopathy, 72 0 0 1 0 1
Developmental delay and seizures with or without movement abnormalities 0 0 1 0 1
Developmental delay with autism spectrum disorder and gait instability 0 0 1 0 1
Developmental delay with or without dysmorphic facies and autism 0 0 0 1 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 0 1 0 1
Developmental delay with variable intellectual disability and dysmorphic facies 0 0 1 0 1
Diencephalic-mesencephalic junction dysplasia syndrome 1 0 1 0 0 1
Dilated cardiomyopathy 1A 0 1 0 0 1
Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 0 0 1 0 1
Dilated cardiomyopathy 1DD 0 1 0 0 1
Dilated cardiomyopathy 1G 0 1 0 0 1
Dilated cardiomyopathy 1HH 0 1 0 0 1
Dilated cardiomyopathy 1S 0 1 0 0 1
Dilated cardiomyopathy 1Y 0 1 0 0 1
Dilated cardiomyopathy 3B 0 0 1 0 1
Dystonia 25 0 0 1 0 1
Dystonia 9 0 0 1 0 1
Early-onset myopathy with fatal cardiomyopathy 0 1 0 0 1
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 0 1 0 0 1
Ectodermal dysplasia 13, hair/tooth type 0 0 1 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 1 0 1
Ehlers-Danlos syndrome, arthrochalasia type 0 0 1 0 1
Ehlers-Danlos syndrome, periodontal type 1 0 0 1 0 1
Ehlers-Danlos syndrome, periodontal type 2 0 0 1 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 0 1 1
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features 0 0 1 0 1
Epilepsy, early-onset, with or without developmental delay 0 0 1 0 1
Epilepsy, early-onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 1 0 1
Epilepsy, familial focal, with variable foci 1 0 1 0 0 1
Epilepsy, familial focal, with variable foci 2 0 1 0 0 1
Epilepsy, familial temporal lobe, 1 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 12 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 16 0 0 1 0 1
Epiphyseal dysplasia, multiple, 6 0 0 1 0 1
Episodic ataxia type 1 0 1 0 0 1
Episodic ataxia type 6 0 0 1 0 1
Erythrokeratodermia variabilis et progressiva 2 0 0 1 0 1
FG syndrome 2 0 0 1 0 1
Familial adenomatous polyposis 2 0 1 0 0 1
Familial dysfibrinogenemia 0 1 0 0 1
Familial episodic pain syndrome with predominantly upper body involvement 0 0 1 0 1
Familial porphyria cutanea tarda 0 0 1 0 1
Fanconi anemia complementation group D1 1 0 0 0 1
Febrile seizure (within the age range of 3 months to 6 years) 0 0 1 0 1
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 0 1 0 0 1
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 0 1 0 1
Furrowed tongue 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 10 0 0 1 0 1
Genitopatellar syndrome 0 1 0 0 1
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 0 0 1 0 1
Global developmental delay; Mild intellectual disability 0 0 1 0 1
Global developmental delay; Seizure 0 0 1 0 1
Glomerulopathy with fibronectin deposits 2 0 1 0 0 1
Glycogen storage disease type III 0 0 1 0 1
Glycogen storage disease, type II 0 1 0 0 1
Glycogen storage disease, type IV 0 1 0 0 1
Gorlin syndrome 1 0 0 0 1
Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 0 1 0 1
Hearing loss, autosomal dominant 73 0 0 1 0 1
Hearing loss, autosomal dominant 78 0 0 1 0 1
Hearing loss, autosomal dominant 84 0 0 1 0 1
Hearing loss, autosomal dominant 85 0 0 1 0 1
Hearing loss, autosomal dominant 89 0 0 1 0 1
Heart, malformation of; Abnormality of the outer ear 0 0 1 0 1
Heimler syndrome 2 0 1 0 0 1
Hennekam lymphangiectasia-lymphedema syndrome 2 1 0 0 0 1
Hereditary lymphedema type I 0 0 1 0 1
Hereditary spastic paraplegia 15 0 1 0 0 1
Hereditary spastic paraplegia 30 0 0 1 0 1
Hereditary spastic paraplegia 5A 0 0 1 0 1
Hereditary spastic paraplegia 6 0 0 1 0 1
Holoprosencephaly 13, X-linked 1 0 0 0 1
Holoprosencephaly 9 1 0 0 0 1
Houge-Janssens syndrome 2 0 0 1 0 1
Hutchinson-Gilford syndrome 0 1 0 0 1
Hypercholesterolemia, autosomal dominant, type B 0 0 1 0 1
Hyperinsulinemic hypoglycemia, familial, 1 0 0 1 0 1
Hyperphosphatasia with intellectual disability syndrome 1 0 0 1 0 1
Hyperphosphatasia with intellectual disability syndrome 4 1 0 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 1
Hypertrophic cardiomyopathy 14 0 0 0 1 1
Hypertrophic cardiomyopathy 26 0 0 1 0 1
Hypertrophic cardiomyopathy 3 0 0 1 0 1
Hypertrophic cardiomyopathy 4 0 1 0 0 1
Hypochondroplasia 0 1 0 0 1
Hypogonadotropic hypogonadism 4 with or without anosmia 0 1 0 0 1
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 0 0 1 0 1
Hypoparathyroidism, deafness, renal disease syndrome 0 1 0 0 1
Hypoplastic left heart syndrome 0 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 1 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 1 0 0 1
Idiopathic basal ganglia calcification 1 0 0 1 0 1
Intellectual developmental disorder 60 with seizures 0 0 0 1 1
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0 0 1 0 1
Intellectual developmental disorder with impaired language and dysmorphic facies 0 0 1 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 0 1 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 1 0 1
Intellectual developmental disorder, X-linked 112 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 65 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 66 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 68 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 72 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 67 0 1 0 0 1
Intellectual disability, X-linked 105 0 1 0 0 1
Intellectual disability, X-linked 49 0 0 1 0 1
Intellectual disability, X-linked 72; Early-onset parkinsonism-intellectual disability syndrome 0 0 1 0 1
Intellectual disability, X-linked 96 0 1 0 0 1
Intellectual disability, X-linked 99 0 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 1
Intellectual disability, X-linked, syndromic, 35 0 0 1 0 1
Intellectual disability, autosomal dominant 13 0 0 1 0 1
Intellectual disability, autosomal dominant 34 0 0 1 0 1
Intellectual disability, autosomal dominant 39 1 0 0 0 1
Intellectual disability, autosomal dominant 51 1 0 0 0 1
Intellectual disability, autosomal dominant 52 0 1 0 0 1
Intellectual disability, autosomal dominant 53 0 0 1 0 1
Intellectual disability, autosomal dominant 54 0 0 1 0 1
Intellectual disability, autosomal dominant 56 0 1 0 0 1
Intellectual disability, autosomal dominant 6 0 1 0 0 1
Intellectual disability, autosomal recessive 64 0 0 1 0 1
Intellectual disability, autosomal recessive 65 0 1 0 0 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 1 0 1
Joubert syndrome 37 0 1 0 0 1
Joubert syndrome 40 1 0 0 0 1
KBG syndrome 0 1 0 0 1
Keppen-Lubinsky syndrome 0 0 1 0 1
Khan-Khan-Katsanis syndrome 0 0 1 0 1
Kleefstra syndrome 2 0 0 1 0 1
Koolen-de Vries syndrome 1 0 0 0 1
Landau-Kleffner syndrome 0 0 1 0 1
Late-onset retinal degeneration 1 0 0 0 1
Lesch-Nyhan syndrome 0 0 1 0 1
Leukodystrophy, childhood-onset, remitting 0 0 1 0 1
Leukodystrophy, hypomyelinating, 25 0 0 1 0 1
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 0 0 1 0 1
Lewy body dementia; Autosomal dominant Parkinson disease 1; Autosomal dominant Parkinson disease 4 0 0 1 0 1
Linear skin defects with multiple congenital anomalies 1 0 0 1 0 1
Lissencephaly 9 with complex brainstem malformation 0 0 1 0 1
Lissencephaly due to LIS1 mutation 0 0 1 0 1
Loeys-Dietz syndrome 4 0 0 1 0 1
Long QT syndrome 1 0 0 1 0 1
Long QT syndrome 12 0 0 1 0 1
Long QT syndrome 3 0 0 1 0 1
Long QT syndrome 6 0 0 1 0 1
Lower limb spasticity; Neurodevelopmental delay 0 0 1 0 1
Luscan-Lumish syndrome 0 0 1 0 1
Lynch syndrome 5 1 0 0 0 1
Macrocephaly 1 0 0 0 1
Macrocephaly-autism syndrome 0 0 1 0 1
Macular degeneration, age-related, 3 0 0 1 0 1
Macular degeneration, early-onset 0 0 1 0 1
Macular dystrophy with central cone involvement 1 0 0 0 1
Maple syrup urine disease, mild variant 0 0 1 0 1
Maturity-onset diabetes of the young type 2 0 1 0 0 1
McCune-Albright syndrome 0 1 0 0 1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 1 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 0 1 0 0 1
Menke-Hennekam syndrome 1 0 0 1 0 1
Methylcobalamin deficiency type cblG 0 0 1 0 1
Methylmalonic acidemia with homocystinuria, type cblX 0 0 1 0 1
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 0 1 0 1
Microcephalic osteodysplastic dysplasia, Saul-Wilson type 0 0 1 0 1
Microcephaly 18, primary, autosomal dominant 0 0 1 0 1
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 0 1 0 1
Microcephaly 20, primary, autosomal recessive 0 1 0 0 1
Microcephaly 5, primary, autosomal recessive 1 0 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 1 0 0 1
Microcephaly, short stature, and limb abnormalities 0 1 0 0 1
Mild intellectual disability 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 19 0 0 1 0 1
Mucocutaneous ulceration, chronic 0 1 0 0 1
Mucolipidosis type II 0 0 1 0 1
Mucopolysaccharidosis, MPS-III-C 0 1 0 0 1
Muir-Torré syndrome 1 0 0 0 1
Muscular atrophy 0 0 1 0 1
Myopathy due to calsequestrin and SERCA1 protein overload 0 0 1 0 1
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 0 0 1 0 1
Myopathy, congenital, with tremor 0 0 1 0 1
Myopathy, proximal, and ophthalmoplegia 0 0 1 0 1
Nail-patella syndrome 1 0 0 0 1
Nemaline myopathy 2 0 0 1 0 1
Nemaline myopathy 6 0 0 1 0 1
Nephronophthisis 14 0 0 1 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 1
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0 0 1 0 1
Neurodevelopmental abnormality 0 0 1 0 1
Neurodevelopmental disorder 0 1 0 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 1 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 1 0 0 1
Neurodevelopmental disorder with eye movement abnormalities and ataxia 0 0 1 0 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 1 0 0 1
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 1 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 0 1
Neurodevelopmental disorder with or without autism or seizures 1 0 0 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 0 1 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 0 1 0 1
Neurodevelopmental disorder with severe motor impairment and absent language 1 0 0 0 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 1 0 1
Neurodevelopmental disorder with speech impairment and with or without seizures 0 0 1 0 1
Neurodevelopmental phenotype 0 1 0 0 1
Neurodevelopmental, jaw, eye, and digital syndrome 0 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 11; Developmental delay with or without epilepsy 0 1 0 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 11; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 0 0 1 0 1
Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome 0 0 1 0 1
Nijmegen breakage syndrome-like disorder 0 1 0 0 1
Noonan syndrome 10 0 0 1 0 1
Noonan syndrome 4 0 0 1 0 1
Noonan syndrome 6 0 0 1 0 1
Norman-Roberts syndrome 0 0 1 0 1
Obesity 0 1 0 0 1
Occult macular dystrophy 0 0 1 0 1
Oculocutaneous albinism type 1A 0 1 0 0 1
Optic atrophy 12 0 0 1 0 1
Orofaciodigital syndrome I 0 1 0 0 1
Osteochondritis dissecans 1 0 0 0 1
Osteogenesis imperfecta 0 1 0 0 1
Osteopathia striata with cranial sclerosis 0 0 1 0 1
Oto-palato-digital syndrome, type I 0 0 1 0 1
PHARC syndrome 0 0 1 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 0 1 0 1
PUM1-associated developmental disability-ataxia-seizure syndrome 0 1 0 0 1
Papillary renal cell carcinoma type 1 0 0 1 0 1
Parkinson disease 18, autosomal dominant, susceptibility to 0 0 1 0 1
Parkinson disease, late-onset 0 0 1 0 1
Paroxysmal dyskinesia 0 0 1 0 1
Periventricular nodular heterotopia 7 0 0 1 0 1
Peroxisome biogenesis disorder 9B 0 0 1 0 1
Peters plus syndrome 1 0 0 0 1
Pheochromocytoma 0 0 1 0 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 1 0 1
Pilarowski-Bjornsson syndrome 0 1 0 0 1
Polycystic kidney disease 2 0 1 0 0 1
Polyneuropathy 0 0 1 0 1
Pontocerebellar hypoplasia type 2A 0 1 0 0 1
Premature ovarian failure 7 0 1 0 0 1
Primrose syndrome 0 1 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 0 0 1 0 1
Progressive familial heart block type IB 0 0 1 0 1
Progressive sclerosing poliodystrophy 0 0 1 0 1
Protan defect 0 1 0 0 1
Pulp calcification 0 0 1 0 1
Rahman syndrome 1 0 0 0 1
Renpenning syndrome 0 0 1 0 1
Retinitis pigmentosa 11 0 1 0 0 1
Retinitis pigmentosa 18 0 0 1 0 1
Retinitis pigmentosa 2 0 0 1 0 1
Retinitis pigmentosa 43 0 0 1 0 1
Retinitis pigmentosa 86 0 1 0 0 1
Retinitis pigmentosa 87 with choroidal involvement 0 0 1 0 1
SIN3B-associated disorder 0 0 1 0 1
SMARCA1-related disorder 0 0 1 0 1
Seckel syndrome 5 1 0 0 0 1
Seizures, benign familial neonatal, 1 0 1 0 0 1
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 0 0 1 0 1
Seizures, benign familial neonatal, 2 0 0 1 0 1
Sensorineural hearing loss disorder 0 0 1 0 1
Sensorineural hearing loss disorder; Seizure; Intellectual disability 0 0 1 0 1
Sessile serrated polyposis cancer syndrome 0 1 0 0 1
Severe early-childhood-onset retinal dystrophy 0 0 1 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 0 0 1
Severe myoclonic epilepsy in infancy 0 1 0 0 1
Short stature 0 0 1 0 1
Short stature; Microcephaly 0 0 1 0 1
Short stature; Microcephaly; Abnormal brain morphology 0 1 0 0 1
Short stature; Neurodevelopmental delay 0 1 0 0 1
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 0 0 1 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 1
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 0 1 0 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 1 0 0 0 1
Spinocerebellar ataxia type 14 0 1 0 0 1
Spinocerebellar ataxia type 25 0 0 1 0 1
Spinocerebellar ataxia type 29 0 1 0 0 1
Spinocerebellar ataxia type 29; Gillespie syndrome 0 0 1 0 1
Spinocerebellar ataxia type 38 0 0 1 0 1
Spinocerebellar ataxia type 5 0 0 1 0 1
Spondyloepimetaphyseal dysplasia with multiple dislocations 0 0 1 0 1
Spondyloepiphyseal dysplasia congenita 0 1 0 0 1
Suleiman-El-Hattab syndrome 0 0 1 0 1
Syndromic X-linked intellectual disability 14 0 0 1 0 1
Syndromic X-linked intellectual disability Najm type 0 1 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 1 0 0 0 1
Tietz syndrome; Waardenburg syndrome type 2A 0 0 1 0 1
Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 0 0 1 0 1
Torsion dystonia 4 0 0 1 0 1
Treacher Collins syndrome 2 0 0 1 0 1
Tremor, hereditary essential, 4 0 0 1 0 1
Tuberous sclerosis 1 1 0 0 0 1
Tuberous sclerosis 2 1 0 0 0 1
Usher syndrome 0 0 1 0 1
Usher syndrome type 2C 0 1 0 0 1
Vertebral hypersegmentation and orofacial anomalies 0 0 1 0 1
Ververi-Brady syndrome 0 1 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 0 0 1 0 1
Vitamin D-dependent rickets, type 3 0 0 1 0 1
Vitelliform macular dystrophy 2 0 0 1 0 1
Vitelliform macular dystrophy 4 0 0 1 0 1
Waardenburg syndrome type 2E; Waardenburg syndrome type 4C 0 1 0 0 1
Weaver syndrome 0 1 0 0 1
X-linked intellectual disability, Cantagrel type 0 0 1 0 1
X-linked mixed hearing loss with perilymphatic gusher 1 0 0 0 1
X-linked myopathy with postural muscle atrophy 0 0 1 0 1
ZTTK syndrome 0 1 0 0 1
Zimmermann-Laband syndrome 3 0 0 1 0 1
neuro-ectodermal phenotype 1 0 0 0 1

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