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
20 29 54 8 0 111

Gene and significance breakdown #

Total genes and gene combinations: 99
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
KMT2D 2 2 1 0 5
CHD7 2 2 0 0 4
​intergenic 0 0 2 0 2
ENG 1 1 0 0 2
HDAC8 0 2 0 0 2
MAP2K2 0 1 1 0 2
SPTAN1 0 2 0 0 2
A3GALT2, AADACL3, AADACL4, ABCA4, ABCD3, ACADM, ACOT11, ACTL8, ADGRB2, ADGRL2, ADGRL4, ADPRS, AGBL4, AGL, AGMAT, AGO1, AGO3, AGO4, AGTRAP, AHDC1, AK2, AK4, AK5, AKIRIN1, AKR1A1, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALG14, ALG6, ALPL, ANGPTL3, ANGPTL7, ANKRD13C, 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, C1orf109, C1orf122, C1orf127, C1orf141, C1orf146, C1orf158, 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, CFAP57, 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, DNAJB4, DNAJC16, DNAJC6, DNAJC8, DNALI1, DNASE2B, DNTTIP2, DOCK7, DPH2, DPH5, DPYD, DR1, DRAXIN, 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, FAM183A, 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, HHLA3, HIVEP3, HMGB4, HMGCL, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HOOK1, HP1BP3, HPCA, HPCAL4, HPDL, HS2ST1, HSPB11, HSPB7, HSPG2, HTR1D, HTR6, HYI, ID3, IFFO2, IFI44, IFI44L, IFI6, IFNLR1, IGSF21, IL12RB2, IL22RA1, IL23R, INPP5B, INSL5, IPO13, IPP, IQCC, ITGB3BP, JAK1, JUN, KANK4, KAZN, KCNQ4, KDF1, KDM1A, KDM4A, KHDRBS1, KIAA0319L, KIAA0754, KIAA1107, KIAA1522, KIAA2013, KIF17, KIF1B, KIF2C, KLF17, KLHDC7A, KNCN, KPNA6, KTI12, KYAT3, L1TD1, LACTBL1, LAPTM5, LCK, LDLRAD1, LDLRAD2, LDLRAP1, LEPR, LEPROT, LEXM, 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, MST1L, 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, PRAMEF16, 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, TCTEX1D1, TCTEX1D4, 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, WDR63, WDR78, 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, ZSCAN20, ZSWIM5, ZYG11A, ZYG11B, ZZZ3 0 0 1 0 1
ABHD12, ACSS1, ADAM33, ADRA1D, ANGPT4, ANKEF1, AP5S1, APMAP, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, C20orf141, C20orf194, C20orf202, C20orf27, 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, 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
ABHD8, ANKLE1, ANO8, AP1M1, BABAM1, BST2, C19orf44, CALR3, CHERP, CIB3, COLGALT1, CPAMD8, CYP4F11, CYP4F2, DDA1, EPS15L1, F2RL3, FAM32A, FCHO1, GTPBP3, HAUS8, HSH2D, KLF2, LOC100507551, MAP1S, MED26, MRPL34, MVB12A, MYO9B, NIBAN3, NR2F6, NWD1, NXNL1, OCEL1, OR10H4, PGLS, PLVAP, RAB8A, SIN3B, SLC27A1, SLC35E1, SMIM7, TMEM221, TMEM38A, TPM4, UNC13A, USE1, USHBP1 1 0 0 0 1
ACTB 0 1 0 0 1
ACVRL1 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
AGPAT5, ANGPT2, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, MCPH1, XKR5 0 1 0 0 1
AHCY, ASIP 0 0 1 0 1
AKR1A1, MMACHC, PRDX1, TESK2 0 0 1 0 1
ANK2 0 0 1 0 1
ANKRD36C, FAHD2A, GPAT2, KCNIP3, PROM2, TRIM43, TRIM43B 0 0 1 0 1
APC 0 0 1 0 1
ARG2, RDH11, RDH12, VTI1B, ZFYVE26 0 0 1 0 1
ARHGAP10, EDNRA, PRMT9, TMEM184C 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
BAG3 0 1 0 0 1
BAG3, INPP5F 0 0 0 1 1
BLM 1 0 0 0 1
C12orf4, FGF23, FGF6, TIGAR 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
C8orf17, TRAPPC9 0 0 1 0 1
CASK 0 1 0 0 1
CATSPER2, CKMT1A, CKMT1B, PPIP5K1, STRC 0 0 1 0 1
CBL 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
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
CERT1, POLK 0 0 1 0 1
CHMP1A, CPNE7, DPEP1, SPATA33 0 0 1 0 1
COL11A1, OLFM3 0 0 1 0 1
COL3A1 1 0 0 0 1
COL4A3 0 0 0 1 1
COL6A3, ESPNL, KLHL30, LRRFIP1, MLPH, PRLH, RAB17, RAMP1, RBM44, SCLY, UBE2F 0 0 1 0 1
CPPED1, SHISA9, SNX29 0 0 1 0 1
DLG2 0 0 1 0 1
DLGAP1 0 0 1 0 1
DMRT1, DMRT2, DMRT3, KANK1 0 0 1 0 1
DNMT3A 1 0 0 0 1
DONSON 0 1 0 0 1
DYNC1H1 0 0 1 0 1
ERC1 0 1 0 0 1
EYA2, ZMYND8 0 0 1 0 1
EZH2 0 1 0 0 1
GABRA1 0 0 1 0 1
GJB3 0 0 1 0 1
GLI3, INHBA 1 0 0 0 1
GMDS 0 0 1 0 1
GPC5 0 0 1 0 1
GTF2H2C, MARVELD2, NAIP, OCLN, RAD17, SERF1A, SERF1B, SMN1, SMN2 0 0 0 1 1
HAO1, TMX4 0 0 1 0 1
HEPACAM 0 1 0 0 1
HNRNPK 0 0 1 0 1
HYMAI, PLAGL1, SF3B5, STX11, UTRN 0 0 1 0 1
KCNH2 0 1 0 0 1
KDM4B 0 0 1 0 1
KIF5A 0 1 0 0 1
LAMA2 0 1 0 0 1
MAPK10 0 0 0 1 1
MED13L 1 0 0 0 1
MRGPRX3, MRGPRX4, SAA2, SAA2-SAA4, SAA4, SAAL1, SERGEF, TPH1 0 0 0 1 1
MSH2 0 0 1 0 1
MSH6 1 0 0 0 1
MYBPC3 0 1 0 0 1
NEFH 0 1 0 0 1
NEO1 0 0 1 0 1
NFIA 0 1 0 0 1
NIPBL 0 0 0 1 1
NSD1 0 0 0 1 1
OCIAD1, OCIAD2 0 0 1 0 1
OFD1 0 1 0 0 1
PAX6 0 0 1 0 1
PEX6 0 1 0 0 1
PMP22 1 0 0 0 1
PRKACB, TTLL7 0 0 0 1 1
PRX 1 0 0 0 1
PTEN 1 0 0 0 1
RELN 0 0 1 0 1
RYR1 0 0 1 0 1
SCN11A 0 0 1 0 1
SEMA5A 0 0 1 0 1
SH3TC2 1 0 0 0 1
SMC3 0 0 1 0 1
SMCHD1 0 0 1 0 1
SOS1 0 0 1 0 1
SPAST 0 0 1 0 1
TBX18 0 0 1 0 1
TRPM4 0 0 1 0 1
TSEN54 0 1 0 0 1
WDR45 1 0 0 0 1
WDR62 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 72
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
not provided 4 0 8 0 12
not specified 0 0 7 3 10
Kabuki syndrome 1 2 2 1 0 5
CHARGE association 2 2 0 0 4
Delayed speech and language development 0 1 2 1 4
Global developmental delay 0 1 2 1 4
Cardiofaciocutaneous syndrome 4 0 1 1 0 2
Cornelia de Lange syndrome 5 0 2 0 0 2
Early infantile epileptic encephalopathy 5 0 2 0 0 2
Hereditary hemorrhagic telangiectasia type 1 1 1 0 0 2
Intellectual disability 0 0 2 0 2
Muscular Diseases 0 0 2 0 2
Neurodevelopmental delay 0 0 2 0 2
AU-KLINE 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
Autistic behavior; Seizures 0 0 1 0 1
Autistic disorder of childhood onset 0 0 1 0 1
Blepharophimosis; Ptosis; Hemangioma; Abnormal facial shape 0 0 1 0 1
Bloom syndrome 1 0 0 0 1
Brain malformations and urinary tract defects 0 1 0 0 1
Cardiac arrhythmia, ankyrin B-related 0 0 1 0 1
Charcot-Marie-Tooth disease and deafness; Dejerine-Sottas disease 1 0 0 0 1
Charcot-Marie-Tooth disease type 2C 0 1 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2O 0 0 1 0 1
Charcot-Marie-Tooth disease, type 4C 1 0 0 0 1
Cognitive impairment; Delayed speech and language development 0 0 1 0 1
Cornelia de Lange Syndrome 0 0 0 1 1
Cornelia de Lange syndrome 3 0 0 1 0 1
Deafness, autosomal recessive 1A 0 0 1 0 1
Dejerine-Sottas disease 1 0 0 0 1
Delayed speech and language development; Intellectual disability 0 0 0 1 1
Dilated cardiomyopathy 1HH 0 1 0 0 1
Ehlers-Danlos syndrome, type 4 1 0 0 0 1
Episodic pain syndrome, familial, 3 0 0 1 0 1
Familial adenomatous polyposis 1 0 0 1 0 1
Familial hypertrophic cardiomyopathy 4 0 1 0 0 1
Global developmental delay; Intellectual disability, mild 0 0 1 0 1
Global developmental delay; Seizures 0 0 1 0 1
Greig cephalopolysyndactyly syndrome 1 0 0 0 1
Heimler syndrome 2 0 1 0 0 1
Hereditary hemorrhagic telangiectasia type 2 0 1 0 0 1
Hereditary nonpolyposis colorectal cancer type 5 1 0 0 0 1
Lissencephaly 2 0 0 1 0 1
Long QT syndrome 2 0 1 0 0 1
Lower limb spasticity; Neurodevelopmental delay 0 0 1 0 1
Lynch syndrome I 0 0 1 0 1
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 0 1 0 0 1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 0 1 0 0 1
Macrocephalus 1 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 2a; Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 0 1 0 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 0 1 0 0 1
Myopathy, Central Core 0 0 1 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 1
Noonan syndrome 4 0 0 1 0 1
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0 0 1 0 1
Orofaciodigital syndrome I 0 1 0 0 1
Pontocerebellar hypoplasia type 2A 0 1 0 0 1
Primary autosomal recessive microcephaly 2 0 0 1 0 1
Progressive familial heart block type 1B 0 0 1 0 1
Seckel syndrome 5 1 0 0 0 1
Sensorineural hearing loss 0 0 1 0 1
Sensorineural hearing loss; Seizures; Intellectual disability 0 0 1 0 1
Short stature; Microcephaly; Abnormality of brain morphology 0 1 0 0 1
Short stature; Neurodevelopmental delay 0 1 0 0 1
Sotos syndrome 1 0 0 0 1 1
Spastic paraplegia 10 0 1 0 0 1
Spastic paraplegia 4, autosomal dominant 0 0 1 0 1
Tatton-Brown-rahman syndrome 1 0 0 0 1
Weaver syndrome 0 1 0 0 1
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 0 0 1 0 1

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