ClinVar Miner

Variants from Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Location: France  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
387 241 213 742 6 1586

Gene and significance breakdown #

Total genes and gene combinations: 522
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TBX5 52 13 4 0 0 69
ANKRD11 7 1 1 10 0 19
KMT2D 5 2 0 12 0 19
MECP2 11 5 1 1 0 18
KMT2A 10 1 1 5 0 17
LRP2 0 0 2 15 0 17
CACNA1A 2 5 3 6 0 16
ASPM 0 0 6 9 0 15
DOCK8 0 0 6 9 0 15
DYNC2H1 0 0 5 9 0 14
DOCK6 0 0 0 13 0 13
KAT6A 4 1 0 7 0 12
LAMA2 0 0 2 10 0 12
LAMC3 0 0 2 10 0 12
CEP290 0 0 2 7 2 11
CREBBP 2 0 2 7 0 11
EP300 1 2 0 8 0 11
KMT2B 0 1 0 10 0 11
KMT2C 2 1 0 8 0 11
AHDC1 3 1 0 6 0 10
AXIN2 5 5 0 0 0 10
DYNC1H1 2 2 2 4 0 10
KDM6B 0 1 0 9 0 10
SYNE1 0 0 3 7 0 10
TRAPPC9 1 1 7 1 0 10
ANK3 0 0 1 8 0 9
ARID1B 2 0 1 6 0 9
ASH1L 1 0 0 8 0 9
CHD7 0 1 0 8 0 9
CHD8 2 0 0 7 0 9
ITPR1 0 1 0 7 1 9
KCNQ2 6 2 1 0 0 9
MED13L 4 1 0 4 0 9
NSD1 5 1 0 3 0 9
SYNGAP1 5 5 0 0 0 9
ADNP 3 1 1 3 0 8
ARID1A 2 2 0 4 0 8
CAMTA1 1 0 0 7 0 8
FTCD 0 0 2 6 0 8
GRIN2D 0 0 0 8 0 8
KAT6B 0 0 0 8 0 8
KIF1A 1 1 2 3 1 8
KIF7 0 0 1 7 0 8
MYT1L 2 2 0 4 0 8
POLG, POLGARF 2 0 5 1 0 8
ANK2 0 0 1 6 0 7
ASXL3 1 1 1 4 0 7
BRAT1 1 0 1 5 0 7
BRPF1 3 1 0 3 0 7
CACNA1D 0 0 1 6 0 7
CHD2 2 1 1 3 0 7
NRXN1 0 0 2 5 0 7
AHI1 0 2 1 3 0 6
ALDH4A1 0 0 2 4 0 6
CDK13 0 2 0 4 0 6
CDK5RAP2 0 0 0 6 0 6
DDX3X 5 1 0 0 0 6
DSCAM 0 0 0 6 0 6
FGD1 1 0 0 5 0 6
GRIN1 1 2 0 3 0 6
GRIN2A 1 1 2 2 0 6
MANBA 0 0 0 6 0 6
MED1 0 0 0 6 0 6
NAGLU 0 0 1 5 0 6
NCAPD3 0 0 0 6 0 6
PTPN11 6 0 0 0 0 6
PUF60 5 1 0 0 0 6
SCN1A 4 1 0 1 0 6
SETD5 4 2 0 0 0 6
SHANK3 5 1 0 0 0 6
VPS13B 3 1 1 1 0 6
ARID1B, LOC115308161 0 0 0 5 0 5
ASXL1 1 0 1 3 0 5
AUTS2 0 0 1 4 0 5
CIC 0 1 0 4 0 5
CUX2 0 0 0 5 0 5
CYP27A1 0 0 4 1 0 5
DLG4 2 1 0 2 0 5
DYRK1A 4 0 0 1 0 5
EHMT1 0 0 1 4 0 5
FLNA 0 2 1 2 0 5
FOXP1 1 0 0 4 0 5
MAN2B1 0 2 0 3 0 5
MED12 0 3 1 1 0 5
MED13 2 1 0 2 0 5
MOCS1 0 0 0 5 0 5
MYO5A 0 0 0 5 0 5
NDST1 0 0 0 5 0 5
NIPBL 0 1 1 3 0 5
NSUN2 0 0 2 3 0 5
PACS1 1 0 0 4 0 5
PACS2 0 0 0 5 0 5
SLC6A1 3 1 0 1 0 5
SLC9A6 2 0 1 2 0 5
TRIO 1 4 0 0 0 5
AGA 0 0 1 3 0 4
ARFGEF1 0 4 0 0 0 4
ARFGEF2 0 0 1 3 0 4
ATRX 0 2 1 1 0 4
BTD 0 0 2 2 0 4
CBS 0 0 4 0 0 4
CC2D1A 0 0 3 1 0 4
CHD3 0 2 0 2 0 4
CHD4 0 1 1 2 0 4
CLCN2 0 0 1 3 0 4
CLN8 0 0 2 2 0 4
CNTNAP2 0 1 1 2 0 4
CRB1 0 0 1 3 0 4
CSNK2A1 2 2 0 0 0 4
EBF3 1 0 0 3 0 4
FBXO11 0 0 0 4 0 4
FMN2 0 0 0 4 0 4
GRIA2 1 3 0 0 0 4
GRIN2B 2 0 0 2 0 4
HECW2 0 1 0 3 0 4
HIVEP2 1 0 0 3 0 4
IQSEC2 2 1 1 0 0 4
KDM6A 0 2 0 2 0 4
MAST1 0 0 0 4 0 4
MCPH1 0 0 2 2 0 4
MET 0 0 1 3 0 4
MTHFR 0 0 0 4 0 4
MTR 0 0 1 3 0 4
NARS1 1 3 0 0 0 4
NHS 0 0 0 4 0 4
RELN 0 0 1 3 0 4
SCN2A 2 1 1 0 0 4
SETBP1 1 0 1 2 0 4
SKI 2 0 2 0 0 4
SMARCA2 0 2 1 1 0 4
WNT10B 2 2 0 0 0 4
ZEB2 4 0 0 0 0 4
ACTG1 1 0 0 2 0 3
AFF2 0 0 0 3 0 3
ALDH7A1 1 0 1 1 0 3
ANO5 0 0 0 3 0 3
AP4B1 0 0 1 2 0 3
ARSA 0 0 3 0 0 3
ATP1A3 0 1 0 2 0 3
ATP7A 0 0 0 3 0 3
BCL11A 1 2 0 0 0 3
BCOR 0 0 0 3 0 3
BRWD3 0 0 0 3 0 3
CAMK2A 0 2 0 1 0 3
CLN3 0 0 0 3 0 3
CNOT1 2 1 0 0 0 3
CNOT3 0 0 0 3 0 3
DEAF1 1 1 0 1 0 3
DEPDC5 0 0 1 2 0 3
EPB41L1 0 0 0 3 0 3
FAM47A 0 0 0 3 0 3
FGFR3 3 0 0 0 0 3
FRAS1 2 1 0 0 0 3
GALC 0 0 1 2 0 3
GATA4 0 0 0 3 0 3
GCDH 0 0 0 3 0 3
GLB1 0 0 0 3 0 3
GRIP1 0 0 1 2 0 3
HGSNAT 0 0 1 2 0 3
HOXA1 0 0 1 2 0 3
HUWE1 1 0 0 2 0 3
KANSL1 1 0 0 2 0 3
KCNB1 2 0 0 1 0 3
KCNMA1 0 0 1 2 0 3
KCNQ3 1 0 0 2 0 3
KIF11 2 0 0 1 0 3
LEF1 2 0 1 0 0 3
MAF, WWOX 2 0 0 1 0 3
MAN1B1 0 0 0 3 0 3
MAOA 0 0 1 2 0 3
MED14 0 0 0 3 0 3
MYT1 0 0 0 3 0 3
NAA15 2 1 0 0 0 3
NONO 3 0 0 0 0 3
NRXN2 0 0 0 3 0 3
OFD1 0 0 0 3 0 3
PAH 0 0 1 2 0 3
PRICKLE1 0 0 2 1 0 3
PTEN 2 1 0 0 0 3
SCN8A 0 3 0 0 0 3
SHROOM4 0 0 3 0 0 3
SLC2A1 2 1 0 0 0 3
SMC1A 2 1 0 0 0 3
SPART 2 1 0 0 0 3
SPG11 0 0 3 0 0 3
TCF20 3 0 0 0 0 3
TNRC6B 0 2 1 0 0 3
TPP1 1 1 1 0 0 3
WDFY3 2 1 0 0 0 3
YARS1 0 3 0 0 0 3
ZBTB18 2 1 0 0 0 3
ABHD14A-ACY1, ACY1 0 0 0 2 0 2
ACTB 1 1 0 0 0 2
ADAT3, SCAMP4 0 0 0 2 0 2
AFG2A 2 0 0 0 0 2
AFG2B 0 2 0 0 0 2
ALDH5A1 0 0 1 1 0 2
ALG13 0 0 0 2 0 2
AMPD2 0 0 1 1 0 2
AP4M1 0 0 0 2 0 2
ARFGEF1-DT, CPA6 0 0 1 1 0 2
ARHGEF9 0 1 0 1 0 2
ASNS, CZ1P-ASNS 2 0 0 0 0 2
ATL1 0 2 0 0 0 2
BPTF 1 1 0 0 0 2
BRAF 2 0 0 0 0 2
CCDC22 0 0 0 2 0 2
CDH15 0 0 0 2 0 2
CENPF 2 0 0 0 0 2
CEP290, RLIG1 0 0 0 2 0 2
CHD5 0 1 1 0 0 2
COL2A1 0 0 0 2 0 2
CTNNB1, LOC126806659 1 0 0 1 0 2
CUL3 0 1 1 0 0 2
DLG3 0 0 0 2 0 2
EEF1A2 0 1 0 1 0 2
EPHB4 1 1 0 0 0 2
FBXO11, LOC100506235 0 0 0 2 0 2
FBXO11, MSH6 1 1 0 0 0 2
FOXG1 1 0 0 1 0 2
FOXP2 0 0 0 2 0 2
FRMPD4 0 1 0 1 0 2
FTSJ1 1 0 0 1 0 2
FUCA1 0 0 0 2 0 2
GABRB3 1 2 0 0 0 2
GABRG2 0 1 0 1 0 2
GATAD2B 1 0 0 1 0 2
GATM 0 0 0 2 0 2
GNAO1 0 1 0 1 0 2
GNB1 2 0 0 0 0 2
GPT2 0 0 0 2 0 2
GUSB 0 0 0 2 0 2
HCN1 0 0 0 2 0 2
HDAC4 0 0 0 2 0 2
HEXA 0 0 1 1 0 2
KCNA2 0 2 0 0 0 2
KCNH1 0 0 0 2 0 2
KCNJ10 0 0 1 1 0 2
KCNQ5, KCNQ5-DT, LOC129996711 0 0 0 2 0 2
KCTD7 0 0 0 2 0 2
KDM3B 1 1 0 0 0 2
KDM5C 2 0 0 0 0 2
KDM6B, LOC121587574 0 0 0 2 0 2
KLHL7 2 0 0 0 0 2
KMT2E 1 1 0 0 0 2
LAMA2, LOC123864065 0 0 0 2 0 2
LAS1L 0 0 0 2 0 2
LOC102724058, SCN1A 1 0 1 0 0 2
LOC126805851, RBM8A 2 0 0 0 0 2
LOC130060903, NAGLU 0 0 0 2 0 2
MBD5 0 0 0 2 0 2
MED25 0 2 0 0 0 2
MORC2 1 1 0 0 0 2
MYCN 0 1 0 1 0 2
NDE1 0 0 1 1 0 2
NDUFS3 2 0 0 0 0 2
NFIX 0 1 0 1 0 2
NGLY1 2 0 0 0 0 2
NR2F1 1 1 0 0 0 2
OPHN1 0 1 0 1 0 2
PCDH19 1 1 0 0 0 2
PHIP 1 1 0 0 0 2
PIGA 0 0 1 1 0 2
PIGT 2 0 0 0 0 2
POGZ 1 1 0 0 0 2
POMT2 0 0 2 0 0 2
PPT1 0 0 2 0 0 2
PTCHD1 0 2 0 0 0 2
PURA 2 0 0 0 0 2
RBM10 1 0 0 1 0 2
RPS6KA3 0 1 1 0 0 2
SMARCA4 0 0 1 1 0 2
SOX5 2 0 0 0 0 2
SPEN 1 1 0 0 0 2
SRCAP 1 0 1 0 0 2
TLK2 1 1 0 0 0 2
TRAF7 1 1 0 0 0 2
TRRAP 0 1 1 0 0 2
TSPAN7 0 0 2 0 0 2
UNC80 0 2 1 0 0 2
USP9X 0 0 2 0 0 2
VCP 0 0 2 0 0 2
WDR62 0 0 2 0 0 2
WWOX 1 1 0 0 0 2
ZNF292 1 0 0 1 0 2
ACSL4 0 1 0 0 0 1
ACTA1 1 0 0 0 0 1
ACVR1 1 0 0 0 0 1
ADCY5 1 0 0 0 0 1
ADGRV1 0 1 0 0 0 1
ADNP, DPM1 0 0 0 1 0 1
ADSL 0 0 0 1 0 1
ALDH4A1, LOC120893116 0 0 0 1 0 1
ALDH5A1, GPLD1, LOC129995978 0 0 0 1 0 1
ALG1 0 0 0 1 0 1
ALG1, LOC130058383 0 0 0 1 0 1
AMT 1 0 0 0 0 1
AMT, NICN1 1 0 0 0 0 1
ANGPT2, MCPH1 0 0 1 0 0 1
ANK2, LOC126807136 0 0 1 0 0 1
ANK2, LOC126807137 0 0 0 1 0 1
ANKH 0 0 1 0 0 1
ANKH, LOC100130744, OTULIN 0 0 0 1 0 1
ANKRD17 0 1 0 0 0 1
AP3B2, LOC130057772 0 0 0 1 0 1
ARHGEF6 0 0 0 1 0 1
ARID1B, LOC115308161, LOC129997525 0 0 0 1 0 1
ARID2 0 1 0 0 0 1
ARX 0 0 0 1 0 1
ASPA, SPATA22 0 0 1 0 0 1
ASPM, LOC129932155 0 0 0 1 0 1
ATIC 0 0 0 1 0 1
ATP1A1 0 1 0 0 0 1
ATP1B1 0 0 1 0 0 1
ATP6V1B2 1 0 0 0 0 1
ATXN7L3, UBTF 1 0 0 0 0 1
BCORL1 0 0 1 0 0 1
BICRA 0 1 0 0 0 1
BICRA, LOC121627883 0 1 0 0 0 1
BRIP1 0 1 0 0 0 1
C12orf57 0 0 0 1 0 1
CA2 0 1 0 0 0 1
CA2, CA3 0 1 0 0 0 1
CACNA1A, LOC126862864 0 1 0 0 0 1
CACNA1A, LOC130063717 0 0 0 1 0 1
CACNA1C 0 1 0 0 0 1
CACNA1E 0 0 0 1 0 1
CACNA1G 0 1 0 0 0 1
CACNA1I 0 1 0 0 0 1
CASK 0 0 1 0 0 1
CBL 0 1 0 0 0 1
CCDC134 1 0 0 0 0 1
CDKL5 1 0 0 0 0 1
CERT1, POLK 0 0 0 1 0 1
CHRNA2 0 0 1 0 0 1
CHRNA4 0 0 0 1 0 1
CHRNB2 0 0 0 1 0 1
CLN5 0 0 0 1 0 1
CLTC 0 0 1 0 0 1
COQ8A 0 0 1 0 0 1
CPA6 0 0 0 1 0 1
CRBN 0 0 1 0 0 1
CTCF 0 0 0 1 0 1
CTNNB1, LOC126806658 0 0 0 1 0 1
CUL4B 1 0 0 0 0 1
CUL4B, LOC113845788 0 0 0 1 0 1
DDB1 0 1 0 0 0 1
DDC 0 0 1 0 0 1
DDX5 0 0 1 0 0 1
DEAF1, LOC126861109 0 0 0 1 0 1
DHCR7 0 0 0 1 0 1
DHX16 0 1 0 0 0 1
DLAT 1 0 0 0 0 1
DLG4, LOC126862479 0 0 0 1 0 1
DLL1 1 0 0 0 0 1
DPH1 0 1 0 0 0 1
DPYD 1 0 0 0 0 1
DRP2 0 0 1 0 0 1
DYNC1H1, LOC126862060 0 0 0 1 0 1
EED 0 1 0 0 0 1
EIF2AK2 0 1 0 0 0 1
ELAVL2 0 0 1 0 0 1
EP300, LOC126863158 0 0 0 1 0 1
EPG5 0 0 1 0 0 1
EPM2A 0 0 0 1 0 1
EXOSC3 1 0 0 0 0 1
FARS2, LOC126859565 0 0 0 1 0 1
FBXL4 1 0 0 0 0 1
FKTN 0 0 1 0 0 1
FLNA, LOC107988032 0 1 0 0 0 1
FMR1 0 0 0 1 0 1
FOLR1 0 0 0 1 0 1
FUCA1, LOC126805661 0 0 0 1 0 1
GABRD 0 0 0 1 0 1
GALC, LOC130056217 0 0 0 1 0 1
GAMT 0 0 0 1 0 1
GAMT, LOC130062945 0 0 0 1 0 1
GDI1 1 0 0 0 0 1
GJC2 0 0 0 1 0 1
GLUD1 0 0 0 1 0 1
GON7 1 0 0 0 0 1
GRIK2 0 0 0 1 0 1
HACE1 1 0 0 0 0 1
HCCS 0 0 0 0 1 1
HDAC8 0 1 0 0 0 1
HEPACAM 0 0 1 0 0 1
HK1 1 0 0 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
HNRNPK 0 1 0 0 0 1
HNRNPU 1 0 0 0 0 1
HPRT1 1 0 0 0 0 1
HSD17B10 1 0 0 0 0 1
IFIH1 1 0 0 0 0 1
IGF1, LINC02456 0 0 0 1 0 1
IL1RAPL1 0 1 0 0 0 1
ITPR1, LOC126806590 1 0 0 0 0 1
KANSL2 0 0 0 1 0 1
KCNC2 0 1 0 0 0 1
KCNQ5 0 1 0 0 0 1
KCNT1 0 1 0 0 0 1
KDM1A 0 1 0 0 0 1
KDM4B 0 1 0 0 0 1
KIF21A 1 0 0 0 0 1
KIF7, LOC126862216 0 0 0 1 0 1
KMT2B, LOC130064258 0 0 0 1 0 1
KMT2C, LOC129999675 0 1 0 0 0 1
KMT2D, LOC126861520 0 1 0 0 0 1
KMT5B 0 1 0 0 0 1
L1CAM 0 1 0 0 0 1
LGI1 0 0 0 1 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 1
LMBRD2 1 0 0 0 0 1
LOC105371856, TANC2 0 0 1 0 0 1
LOC108281134, SOX3 0 0 0 1 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 0 1
LOC125467768, PCDH19 1 0 0 0 0 1
LOC126807619, NSD1 1 0 0 0 0 1
LOC126859827, TAB2 1 0 0 0 0 1
LOC126859837, SYNE1 0 0 0 1 0 1
LOC126862757, TCF4 1 0 0 0 0 1
LOC126863256, WDR45 1 0 0 0 0 1
LOC129935026, TBR1 0 0 0 1 0 1
LOC130003078, MAN1B1 0 0 0 1 0 1
LOC130005722, MED19 0 0 0 1 0 1
LOC130068628, THOC2 0 1 0 0 0 1
MACF1 0 0 1 0 0 1
MAGEL2 1 0 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 0 1
MED17 0 0 0 1 0 1
MED23 0 0 0 1 0 1
MEIS2 0 1 0 0 0 1
MFN2 0 0 1 0 0 1
MFSD8 0 0 0 1 0 1
MN1 1 0 0 0 0 1
MTOR 0 0 0 1 0 1
MVP-DT, PRRT2 1 0 0 0 0 1
NAA10 0 0 0 1 0 1
NADSYN1 1 0 0 0 0 1
NALCN 1 0 0 0 0 1
NCKAP1 0 1 0 0 0 1
NEDD4L 0 0 0 1 0 1
NF1 1 0 0 0 0 1
NFIB 0 0 1 0 0 1
NKAP 0 0 1 0 0 1
NLGN3 0 0 0 1 0 1
NR4A2 0 1 0 0 0 1
NSD2 1 0 0 0 0 1
OCRL 0 1 0 0 0 1
OSGEP 1 0 0 0 0 1
PAFAH1B1 1 0 0 0 0 1
PDHA1 1 0 0 0 0 1
PELP1 0 0 1 0 0 1
PEX7 0 0 1 0 0 1
PHF3 0 0 1 0 0 1
PHF6 0 0 1 0 0 1
PHF8 0 0 1 0 0 1
PIGO 0 0 1 0 0 1
PIK3CA 1 0 0 0 0 1
PLOD3 0 1 0 0 0 1
POLR3B 1 0 0 0 0 1
POMT1 0 0 1 0 0 1
POU3F3 1 0 0 0 0 1
PPM1D 1 0 0 0 0 1
PPP1CB 1 0 0 0 0 1
PPP2R5D 1 0 0 0 0 1
PQBP1 1 0 0 0 0 1
PRKD1 0 1 0 0 0 1
PUM1 0 1 0 0 0 1
RAC1 1 0 0 0 0 1
RALA 1 0 0 0 0 1
RELN, SLC26A5 0 1 0 0 0 1
RORB 1 0 0 0 0 1
RSPH4A 0 1 0 0 0 1
S100PBP, YARS1 0 1 0 0 0 1
SATB1 1 0 0 0 0 1
SATB2 0 0 1 0 0 1
SCNN1A 1 0 0 0 0 1
SETD1B 0 1 0 0 0 1
SHANK1 0 0 0 1 0 1
SHANK2 0 0 0 1 0 1
SHOC2 0 0 0 1 0 1
SIN3A 1 0 0 0 0 1
SLC16A2 0 0 0 0 1 1
SLC19A3 0 0 0 1 0 1
SLC25A12 0 1 0 0 0 1
SLC25A15 0 0 0 1 0 1
SLC46A1 0 0 1 0 0 1
SLC6A8 1 0 0 0 0 1
SMARCC2 1 0 0 0 0 1
SNHG14, UBE3A 1 0 0 0 0 1
SNRNP70 0 0 1 0 0 1
SON 1 0 0 0 0 1
SPRED1 1 0 0 0 0 1
SPTAN1 0 0 1 0 0 1
SPTBN1 0 1 0 0 0 1
ST3GAL3 0 0 1 0 0 1
STAG1 0 1 0 0 0 1
STXBP1 1 0 0 0 0 1
SYN1 0 1 0 0 0 1
SYP 0 1 0 0 0 1
SZT2 0 0 1 0 0 1
TBC1D24 0 0 1 0 0 1
TBR1 0 0 1 0 0 1
TCF7L2 0 1 0 0 0 1
THOC2 0 1 0 0 0 1
TMEM67 0 0 1 0 0 1
TP53 1 0 0 0 0 1
TRIP12 1 0 0 0 0 1
TTC5 0 0 1 0 0 1
TTN 0 1 0 0 0 1
TUBB2A 0 1 0 0 0 1
TUBB3 1 0 0 0 0 1
TWIST1 1 0 0 0 0 1
UBAP2L 0 0 1 0 0 1
UBE2A 0 1 0 0 0 1
VLDLR 0 0 1 0 0 1
WAC 1 0 0 0 0 1
WDR19 0 0 1 0 0 1
WDR45 1 0 0 0 0 1
ZBTB20 0 1 0 0 0 1
ZBTB7A 1 0 0 0 0 1
ZMYM2 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 191
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Intellectual disability 0 2 168 732 6 908
Neurodevelopmental delay 120 101 7 0 0 228
Holt-Oram syndrome 52 13 4 0 0 69
Global developmental delay 0 2 30 0 0 32
Wiedemann-Steiner syndrome 10 1 1 1 0 13
Developmental and epileptic encephalopathy, 1 5 5 0 0 0 10
KBG syndrome 6 1 0 0 0 7
Kabuki syndrome 1 4 3 0 0 0 7
8q24.3 microdeletion syndrome 5 1 0 0 0 6
AXIN2-related attenuated familial adenomatous polyposis 1 5 0 0 0 6
Intellectual disability, autosomal dominant 5 2 4 0 0 0 6
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 4 1 0 0 0 5
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 4 1 0 0 0 5
KAT6A syndrome 4 1 0 0 0 5
Noonan syndrome 1 5 0 0 0 0 5
Sotos syndrome 4 1 0 0 0 5
Cohen syndrome 3 1 0 0 0 4
DYRK1A-related intellectual disability syndrome 4 0 0 0 0 4
Intellectual developmental disorder with dysmorphic facies and ptosis 3 1 0 0 0 4
Intellectual disability, X-linked 102 4 0 0 0 0 4
Intellectual disability, autosomal dominant 1 0 1 2 0 4
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 1 3 0 0 0 4
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 1 3 0 0 0 4
Oligodontia-cancer predisposition syndrome; AXIN2-related attenuated familial adenomatous polyposis 4 0 0 0 0 4
Phelan-McDermid syndrome 3 1 0 0 0 4
Rett syndrome 3 1 0 0 0 4
Split hand-foot malformation 6 2 2 0 0 0 4
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 3 0 0 0 0 3
Developmental and epileptic encephalopathy, 13 0 3 0 0 0 3
Fraser syndrome 1 2 1 0 0 0 3
Generalized epilepsy with febrile seizures plus, type 2 3 0 0 0 0 3
Intellectual developmental disorder 61 2 1 0 0 0 3
Landau-Kleffner syndrome 1 1 1 0 0 3
Microcephaly 18, primary, autosomal dominant 2 1 0 0 0 3
Mowat-Wilson syndrome 3 0 0 0 0 3
Okur-Chung neurodevelopmental syndrome 1 2 0 0 0 3
Radial aplasia-thrombocytopenia syndrome 3 0 0 0 0 3
SYNGAP1-related developmental and epileptic encephalopathy 2 1 0 0 0 3
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2 0 0 0 0 2
Autosomal recessive spinocerebellar ataxia 7 1 1 0 0 0 2
Blepharophimosis - intellectual disability syndrome, MKB type 0 2 0 0 0 2
Christianson syndrome 2 0 0 0 0 2
Coffin-Siris syndrome 2 0 0 0 0 2
Coffin-Siris syndrome 12 0 2 0 0 0 2
Deficiency of alpha-mannosidase 0 2 0 0 0 2
Developmental and epileptic encephalopathy 94 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 7 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 9 1 1 0 0 0 2
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 1 1 0 0 0 2
Ectrodactyly 2 0 0 0 0 2
Encephalopathy due to GLUT1 deficiency 1 1 0 0 0 2
Galloway-Mowat syndrome 2 0 0 0 0 2
Hereditary lymphedema type I 1 1 0 0 0 2
Heterotopia, periventricular, X-linked dominant 0 2 0 0 0 2
Intellectual developmental disorder with autism and macrocephaly 0 0 0 2 0 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1 1 0 0 0 2
Intellectual disability, X-linked 1 1 1 0 0 0 2
Intellectual disability, autosomal dominant 13 2 0 0 0 0 2
Intellectual disability, autosomal dominant 22 1 1 0 0 0 2
Intellectual disability, autosomal dominant 39 2 0 0 0 0 2
Intellectual disability, autosomal dominant 50 1 1 0 0 0 2
Intellectual disability, autosomal dominant 53 0 2 0 0 0 2
Intellectual disability, autosomal dominant 57 1 1 0 0 0 2
Intellectual disability, autosomal dominant 6 2 0 0 0 0 2
Intellectual disability, autosomal dominant 8 1 1 0 0 0 2
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 2 0 0 0 2
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 1 0 0 0 2
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 1 1 0 0 0 2
Joubert syndrome 3 0 2 0 0 0 2
Kabuki syndrome 2 0 2 0 0 0 2
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2 0 0 0 0 2
Neurodegeneration with brain iron accumulation 5 2 0 0 0 0 2
Neurodevelopmental disorder with language impairment and behavioral abnormalities 1 1 0 0 0 2
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 0 2 0 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 2 0 0 0 0 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 0 0 1 0 2
Seizures, benign familial neonatal, 1 2 0 0 0 0 2
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 1 0 0 0 2
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 0 0 1 0 2
Shprintzen-Goldberg syndrome 2 0 0 0 0 2
Snijders Blok-Campeau syndrome 0 2 0 0 0 2
Syndromic X-linked intellectual disability 34 2 0 0 0 0 2
Syndromic X-linked intellectual disability Claes-Jensen type 2 0 0 0 0 2
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome 1 1 0 0 0 2
X-linked intellectual disability-short stature-overweight syndrome 0 2 0 0 0 2
Abnormal radial ray morphology 0 0 1 0 0 1
Angelman syndrome 1 0 0 0 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 0 0 0 0 1
Au-Kline syndrome 0 1 0 0 0 1
Autism 1 0 0 0 0 1
Autism spectrum disorder 0 1 0 0 0 1
Autism, susceptibility to, 17 0 0 0 1 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 0 1 0 1
Baraitser-Winter syndrome 1 0 1 0 0 0 1
Bohring-Opitz syndrome 1 0 0 0 0 1
Bone marrow failure syndrome 5 1 0 0 0 0 1
CBL-related disorder 0 1 0 0 0 1
CEBALID syndrome 1 0 0 0 0 1
CHARGE association 0 1 0 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 1 0 0 0 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 0 0 0 0 1
Coffin-Lowry syndrome 0 1 0 0 0 1
Coffin-Siris syndrome 1 1 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 1 1 0 0 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 1 0 0 0 0 1
Congenital fibrosis of extraocular muscles type 1 1 0 0 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 0 0 0 1
Congenital heart defects, multiple types, 2 1 0 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 1 0 0 0 0 1
Cornelia de Lange syndrome 1 0 1 0 0 0 1
Cornelia de Lange syndrome 5 0 1 0 0 0 1
Creatine transporter deficiency 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 11 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 17 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 2 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 28 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 33 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 42 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 1 0 0 0 0 1
Developmental delay with or without dysmorphic facies and autism 0 1 0 0 0 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 0 1 0 0 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 0 0 0 0 1
Developmental delay with variable neurologic and brain abnormalities 1 0 0 0 0 1
Dias-Logan syndrome 1 0 0 0 0 1
Dystonia 28, childhood-onset 0 1 0 0 0 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 1 0 0 0 1
Epilepsy, childhood absence, susceptibility to, 5 0 1 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 12 1 0 0 0 0 1
Episodic ataxia type 2 0 1 0 0 0 1
FGFR3-related chondrodysplasia 1 0 0 0 0 1
Febrile seizures, familial, 4 0 1 0 0 0 1
Febrile seizures, familial, 8 0 1 0 0 0 1
Feingold syndrome type 1 0 1 0 0 0 1
Hogue-Janssens syndrome 1 1 0 0 0 0 1
Hypomagnesemia, seizures, and intellectual disability 2 0 1 0 0 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 0 0 0 0 1
Hypotonia, ataxia, and delayed development syndrome 1 0 0 0 0 1
Intellectual developmental disorder 62 0 1 0 0 0 1
Intellectual disability, X-linked 21 0 1 0 0 0 1
Intellectual disability, X-linked 41 1 0 0 0 0 1
Intellectual disability, X-linked 63 0 1 0 0 0 1
Intellectual disability, X-linked 9 1 0 0 0 0 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 0 0 0 1
Intellectual disability, autosomal dominant 29 1 0 0 0 0 1
Intellectual disability, autosomal dominant 46 0 1 0 0 0 1
Intellectual disability, autosomal dominant 9 0 1 0 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 0 0 1
KCNQ3-related developmental disability 1 0 0 0 0 1
Kleefstra syndrome 2 1 0 0 0 0 1
Lesch-Nyhan syndrome 1 0 0 0 0 1
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 0 1 0 0 0 1
Macrocephaly-autism syndrome 0 1 0 0 0 1
Malan overgrowth syndrome 0 1 0 0 0 1
Microcephaly and chorioretinopathy 1 1 0 0 0 0 1
Myoclonic-astatic epilepsy 1 0 0 0 0 1
Neonatal-onset encephalopathy with rigidity and seizures 1 0 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 1 0 0 0 1
Noonan syndrome 1 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 2 1 0 0 0 0 1
Ovarian dysgenesis 3 0 0 0 1 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 0 0 0 0 1
PIK3CA related overgrowth syndrome 1 0 0 0 0 1
PURA Syndrome 1 0 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 0 0 1
Pitt-Hopkins syndrome 1 0 0 0 0 1
Pontocerebellar hypoplasia type 1B 1 0 0 0 0 1
Primrose syndrome 0 1 0 0 0 1
Progressive myositis ossificans 1 0 0 0 0 1
Pyridoxine-dependent epilepsy 1 0 0 0 0 1
Pyruvate dehydrogenase E2 deficiency 1 0 0 0 0 1
Recurrent fractures 1 0 0 0 0 1
Renpenning syndrome 1 0 0 0 0 1
Rett syndrome, congenital variant 1 0 0 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 1 0 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 0 1
Severe myoclonic epilepsy in infancy 0 1 0 0 0 1
Severe neonatal-onset encephalopathy with microcephaly 1 0 0 0 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 0 1
Snijders blok-fisher syndrome 1 0 0 0 0 1
Spastic paraplegia-severe developmental delay-epilepsy syndrome 1 0 0 0 0 1
Specific learning disability; Involuntary movements 0 0 1 0 0 1
Spinocerebellar ataxia type 15/16 1 0 0 0 0 1
Spinocerebellar ataxia type 29 0 1 0 0 0 1
Syndromic X-linked intellectual disability Lubs type 0 1 0 0 0 1
X-linked hydrocephalus syndrome 0 1 0 0 0 1
X-linked intellectual disability Cabezas type 1 0 0 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 0 0 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome 1 0 0 0 0 1
ZTTK syndrome 1 0 0 0 0 1

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