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:
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
75 169 359 22 0 625

Gene and significance breakdown #

Total genes and gene combinations: 486
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
KMT2D 4 3 2 0 9
​intergenic 0 0 7 0 7
NSD1 1 5 0 1 7
ARID1B 2 2 2 0 6
CHD7 3 2 1 0 6
COL11A1 0 1 4 0 5
COL1A1 1 2 1 0 4
SETD5 1 0 3 0 4
USH2A 1 2 0 1 4
ATM 0 2 1 0 3
BRCA2 1 1 1 0 3
CBL 0 0 3 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
HDAC8 0 2 1 0 3
KCNQ5 0 0 3 0 3
MAP1B 0 0 3 0 3
MSH2 1 0 2 0 3
NF1 2 0 1 0 3
RYR1 0 2 1 0 3
SPAST 0 2 1 0 3
SPG7 0 0 3 0 3
SPTAN1 0 3 0 0 3
SUFU 2 1 0 0 3
ACO2 0 1 1 0 2
ACO2, POLR3H 0 1 1 0 2
ACTB 0 1 1 0 2
AP4M1 0 2 0 0 2
APC 1 0 1 0 2
ATM, C11orf65 0 0 2 0 2
ATP1A2 0 1 1 0 2
ATP6V1A 0 0 0 2 2
BCL11A 1 0 1 0 2
CACNA1C 0 0 2 0 2
CERT1, POLK 0 0 2 0 2
CHD3 0 0 2 0 2
CHD8 0 2 0 0 2
COL2A1 0 1 1 0 2
COL3A1 1 0 1 0 2
CPT1C 0 1 1 0 2
CRX 0 0 2 0 2
CUX2 0 1 1 0 2
DCTN1 0 0 2 0 2
EXOSC8 0 2 0 0 2
FARSA 0 0 2 0 2
FBXO11 0 1 1 0 2
FGD4 0 1 1 0 2
FLNA 0 0 2 0 2
FOXP1 0 1 1 0 2
GBE1 0 1 1 0 2
HNRNPK 0 0 2 0 2
IGF1R 0 0 2 0 2
INPP5K 0 0 2 0 2
ITPR1 0 1 1 0 2
KCNH2 0 2 0 0 2
KDM4B 0 0 2 0 2
KIF5A 0 1 1 0 2
KLHL7 0 2 0 0 2
LRP5 0 0 2 0 2
MAP2K2 0 1 1 0 2
MTOR 0 0 1 1 2
NAA10 0 1 1 0 2
NR2F1 0 2 0 0 2
POGZ 0 1 1 0 2
POLE 0 0 2 0 2
SCN11A 0 0 2 0 2
SCN1A 0 1 1 0 2
SCN2A 0 0 2 0 2
SH3TC2 1 0 1 0 2
SHANK3 0 0 1 1 2
SLC2A1 0 1 1 0 2
SMARCA2 0 1 1 0 2
SMC3 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
TNRC6B 0 1 1 0 2
TPM1 0 1 1 0 2
TRIO 0 0 2 0 2
TRPS1 0 1 1 0 2
TRRAP 0 0 1 1 2
TUBA1A 1 1 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, C1orf127, 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, 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, KIAA1522, 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, MFSD14A, 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, 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, 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, C14orf28, C14orf93, CARMIL3, CBLN3, CDH24, CEBPE, CFL2, CHD8, CHMP4A, CIDEB, CLEC14A, CMA1, CMTM5, COCH, CPNE6, CTSG, DAD1, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4L1, DHRS4L2, DNAAF2, 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
ACTRT2, PRDM16, TTC34 0 0 1 0 1
ACVRL1 0 1 0 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, BVES, 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, 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
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
AHDC1 1 0 0 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
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
ARFGEF1 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
ARL3 0 0 1 0 1
ARSD, ARSH, ARSL, GYG2 0 0 1 0 1
ASXL3 0 1 0 0 1
ATAD3A 0 0 1 0 1
ATIC, FN1 0 1 0 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
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
BCORL1 0 0 1 0 1
BDNF 0 1 0 0 1
BEST1 0 0 1 0 1
BLM 1 0 0 0 1
BRAF 0 0 1 0 1
BRSK2 0 0 1 0 1
C12orf4, FGF23, FGF6, TIGAR 0 0 1 0 1
C1QTNF5, MFRP 1 0 0 0 1
C1R 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
C5orf60, CANX, CBY3, LTC4S, MAML1, MGAT4B, MRNIP, RASGEF1C, RNF130, SQSTM1, TBC1D9B 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, LOC126862864 0 0 1 0 1
CACNA1D 0 0 1 0 1
CACNA1G 0 0 1 0 1
CAMK2A 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, MARVELD2, MRPS36, NAIP, OCLN, RAD17, SERF1A, SERF1B, SLC30A5, SMN1, SMN2, TAF9 0 0 1 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
CENPJ, RNF17 1 0 0 0 1
CEP85L, PLN 0 0 1 0 1
CHD1 0 1 0 0 1
CHD2 0 1 0 0 1
CHD4 0 1 0 0 1
CHD5 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
CLEC3A, VAT1L, WWOX 0 0 0 1 1
CLTC 0 1 0 0 1
CNOT1 0 0 1 0 1
CNTNAP5 0 0 1 0 1
COG4 0 0 1 0 1
COL11A1, OLFM3 0 0 1 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
COMP 0 0 1 0 1
COQ2 0 0 1 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
CUL3 1 0 0 0 1
CUL4B 0 0 1 0 1
CYLD 0 1 0 0 1
CYP7B1 0 0 1 0 1
DDX6 0 0 1 0 1
DHX30 1 0 0 0 1
DLG2 0 0 1 0 1
DLGAP1 0 0 1 0 1
DLL1, LOC126859913 0 0 1 0 1
DMRT1, DMRT2, DMRT3, KANK1 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
DSPP 0 1 0 0 1
DYRK1A 1 0 0 0 1
EDAR, RANBP2 0 1 0 0 1
EHMT1 0 0 1 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
EXT1 0 0 1 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
FBXW11 0 0 1 0 1
FGB 0 1 0 0 1
FGFR3 0 1 0 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
FLT4 0 0 1 0 1
FOXL2 0 0 1 0 1
FRMD5 0 0 1 0 1
GAA 0 1 0 0 1
GABRA1 0 0 1 0 1
GABRB2 0 1 0 0 1
GATA3 0 1 0 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
GLI3 1 0 0 0 1
GLI3, INHBA 1 0 0 0 1
GLRA1 1 0 0 0 1
GMDS 0 0 1 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
GRIN2B 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
HCN1 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
HUWE1 0 0 1 0 1
HUWE1, MIR98, MIRLET7F2 0 0 1 0 1
HYMAI, PLAGL1, SF3B5, STX11, UTRN 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
ITSN1 0 0 1 0 1
KANSL1 1 0 0 0 1
KAT6A 0 0 1 0 1
KAT6B 0 1 0 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
KCNJ6 0 0 1 0 1
KCNN3 0 0 1 0 1
KCNQ1 0 0 1 0 1
KCNQ2 0 1 0 0 1
KCNQ3 0 0 1 0 1
KCNV2 0 1 0 0 1
KDM3B 0 0 1 0 1
KDM5B 0 1 0 0 1
KDM5C 0 0 1 0 1
KDM6B 1 0 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
KMT2A 0 0 1 0 1
KMT2B 0 0 1 0 1
KMT2C 0 0 1 0 1
KMT2E 0 1 0 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
LINGO1 0 0 1 0 1
LMNA 0 1 0 0 1
LMX1A 1 0 0 0 1
LMX1B 1 0 0 0 1
LOC105378311, PCDH15 0 0 1 0 1
LOC112840921, OTOF 0 1 0 0 1
LOC126806423, TTN 0 1 0 0 1
LOC126863188, SHANK3 0 1 0 0 1
LOC127814297, POU4F3 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
MAPK10 0 0 0 1 1
MBD5 0 0 1 0 1
MC4R 1 0 0 0 1
MED13 0 0 1 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
MLH1 0 0 1 0 1
MN1 0 1 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
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
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
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
NR5A1 0 1 0 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
PAX6 0 0 1 0 1
PDE11A 0 0 1 0 1
PDE6A 0 0 1 0 1
PDK3 0 0 1 0 1
PEX6 0 1 0 0 1
PEX7 0 0 1 0 1
PIGV 0 0 1 0 1
PKD2 0 1 0 0 1
PKP2 0 1 0 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
PNPT1 0 0 1 0 1
POLG, POLGARF 0 0 1 0 1
POLRMT 0 0 1 0 1
POU3F4 1 0 0 0 1
PPP2R1A 0 0 1 0 1
PQBP1 0 0 1 0 1
PRKACB, TTLL7 0 0 0 1 1
PRKCG 0 1 0 0 1
PRKD1 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
PTEN 1 0 0 0 1
PTPRJ 0 0 1 0 1
PTPRQ 0 0 1 0 1
PUF60 0 0 1 0 1
PUM1 0 0 1 0 1
QRICH1 0 1 0 0 1
RAD50 0 1 0 0 1
RBM20 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
RPL10 0 0 1 0 1
RYR2 0 0 1 0 1
SCN5A 0 0 1 0 1
SEMA5A 0 0 1 0 1
SERPINF1 0 0 1 0 1
SETD1A 0 0 1 0 1
SETD2 0 0 1 0 1
SETX 0 0 1 0 1
SLC12A2 0 0 1 0 1
SLC6A8 1 0 0 0 1
SMAD6 0 1 0 0 1
SMARCC2 0 0 1 0 1
SMARCD1 0 0 1 0 1
SMC1A 0 0 0 1 1
SMCHD1 0 0 1 0 1
SOS1 0 0 1 0 1
SOX2, SOX2-OT 0 0 1 0 1
SPTBN2 0 0 1 0 1
STAG2 1 0 0 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
TASP1 0 0 1 0 1
TBCEL-TECTA, TECTA 0 1 0 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
TNXB 0 0 1 0 1
TOGARAM1 0 1 0 0 1
TP63 0 1 0 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
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
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
ZNF423 0 0 1 0 1
ZSWIM6 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 444
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
Sotos syndrome 1 5 0 1 7
CHARGE association 3 2 1 0 6
Coffin-Siris syndrome 1 2 2 2 0 6
Familial cancer of breast 0 2 4 0 6
Hearing loss, autosomal dominant 37 0 1 4 0 5
Choroideremia 2 1 1 0 4
Delayed speech and language development 0 1 2 1 4
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 3 0 4
Optic atrophy 9 0 2 2 0 4
Usher syndrome type 2A 1 2 0 1 4
Bethlem myopathy 1 0 0 3 0 3
CBL-related disorder 0 0 3 0 3
Central core myopathy 0 2 1 0 3
Cornelia de Lange syndrome 5 0 2 1 0 3
Hereditary spastic paraplegia 4 0 2 1 0 3
Intellectual disability, autosomal dominant 46 0 0 3 0 3
Marfan syndrome 0 0 3 0 3
Microcephaly; Intellectual disability 1 2 0 0 3
Neurofibromatosis, type 1 2 0 1 0 3
Periventricular nodular heterotopia 9 0 0 3 0 3
Phelan-McDermid syndrome 0 1 1 1 3
Tall stature; Intellectual disability; Hypotonia 0 0 3 0 3
Telangiectasia, hereditary hemorrhagic, type 1 1 1 1 0 3
Au-Kline syndrome 0 0 2 0 2
Autism 0 0 2 0 2
Autism, susceptibility to, 5 1 0 1 0 2
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 0 2 0 2
Bone mineral density quantitative trait locus 1 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 4 0 1 1 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
Colorectal cancer, susceptibility to, 12 0 0 2 0 2
Congenital muscular dystrophy with cataracts and intellectual disability 0 0 2 0 2
Cornelia de Lange syndrome 3 0 0 2 0 2
Developmental and epileptic encephalopathy, 11 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
Dias-Logan syndrome 1 0 1 0 2
Ehlers-Danlos syndrome, type 4 1 0 1 0 2
Epileptic encephalopathy, infantile or early childhood, 3 0 0 0 2 2
Familial adenomatous polyposis 1 1 0 1 0 2
Familial episodic pain syndrome with predominantly lower limb involvement 0 0 2 0 2
Global developmental delay with speech and behavioral abnormalities 0 1 1 0 2
Greig cephalopolysyndactyly syndrome 2 0 0 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 with autism and macrocephaly 0 2 0 0 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 1 0 2
Intellectual disability, autosomal dominant 47 0 0 2 0 2
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 1 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 1 1 0 2
Lissencephaly due to TUBA1A mutation 1 1 0 0 2
Long QT syndrome 2 0 2 0 0 2
Lynch syndrome 1 0 0 2 0 2
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 1 1 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
Neuronopathy, distal hereditary motor, type 7B 0 0 2 0 2
Nicolaides-Baraitser syndrome 0 1 1 0 2
Oculomotor apraxia 1 0 0 1 2
Ogden syndrome 0 1 1 0 2
Osteogenesis imperfecta type I 1 0 1 0 2
Osteoporosis 0 0 2 0 2
PERCHING syndrome 0 2 0 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
Seizure 1 0 1 0 2
Snijders Blok-Campeau syndrome 0 0 2 0 2
Spastic tetraparesis 0 0 2 0 2
Spinocerebellar ataxia type 35 0 1 1 0 2
Trichorhinophalangeal dysplasia type I 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
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 0 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 2 0 1 0 0 1
Aortic valve stenosis 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
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset 0 0 1 0 1
Ataxia-telangiectasia syndrome 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
Autistic behavior; Seizure 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 12 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 4A 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 7 1 0 0 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 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 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
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
Basal cell nevus syndrome 1 0 1 0 0 1
Basal cell nevus syndrome 2 0 1 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
Branchiooculofacial syndrome 0 1 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
Cardiofaciocutaneous syndrome 1 0 0 1 0 1
Carpal tunnel syndrome 2 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
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
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 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, dominant intermediate G 0 0 1 0 1
Charcot-marie-tooth disease, axonal, type 2DD 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 11 0 0 1 0 1
Coffin-Siris syndrome 8 0 0 1 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
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 heart defects and ectodermal dysplasia 0 1 0 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
Creatine transporter deficiency 1 0 0 0 1
DYRK1A-related intellectual disability syndrome 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
Developmental and epileptic encephalopathy 6B 0 0 1 0 1
Developmental and epileptic encephalopathy 94 0 1 0 0 1
Developmental and epileptic encephalopathy 97 0 0 1 0 1
Developmental and epileptic encephalopathy, 27 0 0 1 0 1
Developmental and epileptic encephalopathy, 42 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 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, impaired speech, and behavioral abnormalities, with or without seizures 0 0 1 0 1
Diets-Jongmans syndrome 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 1Y 0 1 0 0 1
Dystonia 25 0 0 1 0 1
Dystonia 9 0 0 1 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, periodontal type 1 0 0 1 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 0 1 1
Epilepsy, early-onset, with or without developmental delay 0 0 1 0 1
Epilepsy, familial focal, with variable foci 2 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 12 0 1 0 0 1
Epileptic encephalopathy, infantile or early childhood, 2 0 1 0 0 1
Epiphyseal dysplasia, multiple, 6 0 0 1 0 1
Episodic ataxia type 1 0 1 0 0 1
Erythrokeratodermia variabilis et progressiva 2 0 0 1 0 1
Exostoses, multiple, type 1 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
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
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
Global developmental delay; Intellectual disability, mild 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
Growth delay due to insulin-like growth factor I resistance 0 0 1 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 75 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
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 spastic paraplegia 10 0 1 0 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
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
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
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
Intellectual developmental disorder 60 with seizures 0 0 0 1 1
Intellectual developmental disorder 61 0 0 1 0 1
Intellectual developmental disorder with impaired language and dysmorphic facies 0 0 1 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 1 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 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 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 53 0 0 1 0 1
Intellectual disability, autosomal dominant 56 0 1 0 0 1
Intellectual disability, autosomal dominant 8 0 0 1 0 1
Intellectual disability, autosomal recessive 64 0 0 1 0 1
Intellectual disability, autosomal recessive 65 0 1 0 0 1
Intellectual disability, mild 0 0 1 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
Keppen-Lubinsky syndrome 0 0 1 0 1
Khan-Khan-Katsanis syndrome 0 0 1 0 1
Kleefstra syndrome 1 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
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 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
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
Macular degeneration, age-related, 3 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
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
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 with or without chorioretinopathy, lymphedema, or intellectual disability 0 1 0 0 1
Microcephaly, short stature, and limb abnormalities 0 1 0 0 1
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome 0 0 1 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, 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
Neurodevelopmental abnormality 0 0 1 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 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 severe motor impairment and absent language 1 0 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
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
Norman-Roberts syndrome 0 0 1 0 1
O'Donnell-Luria-Rodan syndrome 0 1 0 0 1
Obesity 0 1 0 0 1
Occult macular dystrophy 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
Papillary renal cell carcinoma type 1 0 0 1 0 1
Parenti-mignot neurodevelopmental syndrome 0 1 0 0 1
Parkinson disease 18, autosomal dominant, susceptibility to 0 0 1 0 1
Paroxysmal dyskinesia 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
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 83 0 0 1 0 1
Seckel syndrome 5 1 0 0 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 intellectual disability-progressive spastic diplegia 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
Shukla-Vernon syndrome 0 0 1 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 1 0 0 0 1
Spinocerebellar ataxia 47 0 0 1 0 1
Spinocerebellar ataxia type 14 0 1 0 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 42 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 Claes-Jensen type 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
Telangiectasia, hereditary hemorrhagic, type 2 0 1 0 0 1
Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 0 0 1 0 1
Torsion dystonia 4 0 0 1 0 1
Tuberous sclerosis 1 1 0 0 0 1
Tuberous sclerosis 2 1 0 0 0 1
Tyrosinase-negative oculocutaneous albinism 0 1 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
Vissers-Bodmer syndrome 0 0 1 0 1
Vitelliform macular dystrophy 2 0 0 1 0 1
Vitelliform macular dystrophy 4 0 0 1 0 1
Weaver syndrome 0 1 0 0 1
Wiedemann-Steiner syndrome 0 0 1 0 1
X-linked intellectual disability Cabezas type 0 0 1 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
Zimmermann-laband syndrome 3 0 0 1 0 1
neuro-ectodermal phenotype 1 0 0 0 1

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