ClinVar Miner

Variants from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Location: United States  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
179 96 1688 151 17 2125

Gene and significance breakdown #

Total genes and gene combinations: 735
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FBN1 15 13 15 4 2 49
TSC2 8 4 17 3 0 32
VPS13B 0 0 22 2 1 25
KMT2D 0 2 17 4 0 22
LYST 0 0 17 4 0 21
TNXB 0 0 17 1 0 18
FBN2 0 2 14 1 0 17
ZNF469 0 0 8 8 1 17
ADAMTSL4 2 1 12 0 0 15
DYNC1H1 0 0 14 1 0 15
LTBP2 0 0 13 2 0 15
IFIH1 0 0 13 1 0 14
MEFV 2 0 12 0 1 14
POLG, POLGARF 1 1 11 1 0 14
SCN5A 0 0 14 0 0 14
COL5A2 0 1 11 2 0 13
NF1 7 0 5 0 1 13
NOTCH1 0 0 12 1 0 13
COL3A1 0 1 9 2 0 12
KCNH2 3 0 8 1 0 12
MECP2 8 1 1 2 0 12
MYLK 0 0 11 1 0 12
PTPN11 11 1 0 0 0 12
ADAMTS17 0 0 10 1 0 11
COL5A1 1 0 10 0 0 11
LRBA 0 1 9 1 0 11
NOD2 0 0 11 0 0 11
DSP 0 0 10 0 0 10
EPG5 0 0 10 0 0 10
FLNA 0 0 7 3 0 10
KCNT1 1 0 8 1 0 10
SCN2A 0 1 8 1 0 10
AKAP9 0 0 9 0 0 9
ANK2 0 0 9 0 0 9
ATM 0 0 7 1 1 9
CIITA 0 0 9 0 0 9
PRKDC 0 0 9 0 0 9
SKIC3 0 0 9 0 0 9
AP3B1 0 0 7 1 0 8
CHD7 0 0 6 2 0 8
CR2 0 0 8 0 0 8
DOCK8 0 0 8 0 0 8
FLNC 0 0 8 0 0 8
MYOM1 0 0 8 0 0 8
NRXN1 0 0 7 1 0 8
PLOD1 0 0 8 0 0 8
PTPRC 0 0 8 0 0 8
RTEL1, RTEL1-TNFRSF6B 0 1 7 0 0 8
SOS1 4 1 2 1 0 8
SPTAN1 0 0 6 2 0 8
ADAMTS10 0 0 6 1 0 7
ALMS1 0 0 7 0 0 7
ATP13A2 0 0 7 0 0 7
CACNA1A 0 1 5 1 0 7
CACNA1C 1 0 5 1 0 7
CNTNAP2 0 0 7 0 0 7
LPIN2 0 0 7 0 0 7
MYH11, NDE1 0 0 7 0 0 7
NLRP3 0 0 7 0 0 7
PLCG2 0 0 7 0 0 7
RYR2 0 0 7 0 0 7
RYR3 0 0 6 1 0 7
SLX4 0 1 6 0 0 7
SPINK5 0 0 7 0 0 7
TNFRSF13B 1 2 3 1 0 7
CARD9 0 0 6 0 0 6
DCLRE1C 0 0 5 1 0 6
FANCA 2 1 3 0 0 6
FANCI 0 0 4 1 1 6
FKRP 2 0 4 0 0 6
GJB2 5 1 0 0 0 6
ITGB2 0 1 2 2 1 6
JPH2 0 0 6 0 0 6
LOC126862264, MEFV 2 0 3 1 0 6
MYBPC3 2 0 4 0 0 6
MYH11 0 0 5 1 0 6
NLRP12 0 0 5 1 0 6
POLE 0 0 6 0 0 6
RBM20 0 0 6 0 0 6
SCARB2 0 1 5 0 0 6
SELP 0 0 6 0 0 6
SETD2 0 0 5 1 0 6
TGFBR2 1 0 4 1 0 6
TPP1 0 0 5 1 0 6
TRDN 0 1 5 0 0 6
UNC13D 0 0 6 0 0 6
C9 0 1 4 0 0 5
COL5A1, LOC101448202 0 1 4 0 0 5
FAT4 0 0 5 0 0 5
FERMT3 0 0 5 0 0 5
KANSL1 0 0 5 0 0 5
LIG4 1 0 4 0 0 5
MASP1 0 0 5 0 0 5
MBD5 0 0 4 1 0 5
PGM3 0 0 5 0 0 5
PIGV 0 0 4 1 0 5
PKP2 1 1 3 0 0 5
RAG1 1 1 2 1 0 5
RECQL4 0 0 4 0 1 5
SBDS 3 0 2 0 0 5
SCN1A 3 0 2 0 0 5
SH3BP2 0 0 5 0 0 5
SKI 0 0 5 0 0 5
SLC2A1 0 0 5 0 0 5
SLC2A10 0 1 3 1 0 5
SMARCAL1 0 0 5 0 0 5
SZT2 0 0 4 1 0 5
TAP2 0 1 3 0 1 5
TCN2 1 0 4 0 0 5
TERT 0 0 3 2 0 5
TMC8 0 0 5 0 0 5
TSC1 2 1 1 1 0 5
TTC7A 0 0 5 0 0 5
TYK2 0 0 4 1 0 5
WRAP53 0 0 5 0 0 5
ADSL 0 0 4 0 0 4
ATM, C11orf65 2 0 2 0 0 4
BLM 0 0 4 0 0 4
C1QC 0 0 4 0 0 4
C1S 0 0 4 0 0 4
C3 0 0 4 0 0 4
C8B 0 0 4 0 0 4
CARD11 0 1 3 0 0 4
CHD2 1 0 3 0 0 4
CHRNA4 0 0 4 0 0 4
CLN6 0 0 3 1 0 4
CNTN2 0 0 4 0 0 4
COL12A1 0 0 3 1 0 4
CSF3R 0 0 4 0 0 4
CTC1 0 0 3 1 0 4
DMD 0 0 4 0 0 4
EFEMP2 0 0 3 1 0 4
FANCD2, LOC107303338 0 0 4 0 0 4
FANCL 0 1 3 0 0 4
FASN 0 0 4 0 0 4
FOXN1 0 0 4 0 0 4
HCN1 0 0 3 1 0 4
IL7R 0 0 4 0 0 4
KAT6B 0 0 4 0 0 4
KCNQ2 1 1 2 0 0 4
MASP2 0 0 4 0 0 4
MOGS 0 0 4 0 0 4
MYPN 0 0 4 0 0 4
NEXMIF 0 0 3 1 0 4
NLRC4 0 0 4 0 0 4
PIGQ 0 0 3 1 0 4
PLCB1 0 1 2 1 0 4
PRDM16 0 0 4 0 0 4
RAF1 1 1 3 0 0 4
RELN 0 0 4 0 0 4
ROGDI 0 0 4 0 0 4
SAMD9 0 0 3 1 0 4
SCN1A, SCN9A 0 0 4 0 0 4
SELE 0 0 4 0 0 4
SLC37A4 0 0 3 1 0 4
SP110, SP140 0 0 4 0 0 4
STAT5B 0 0 4 0 0 4
STIM1 0 0 4 0 0 4
TCF3 0 0 4 0 0 4
TGFB3 0 1 3 0 0 4
TGFBR1 1 0 2 1 0 4
VCL 0 0 4 0 0 4
WIPF1 0 0 4 0 0 4
ACTN2 0 0 3 0 0 3
ADAMTS2 0 0 3 0 0 3
APC 3 0 0 0 0 3
ARFGEF1-DT, CPA6 0 0 3 0 0 3
ATRX 0 0 2 1 0 3
BCL11A 0 0 3 0 0 3
BCR 0 0 3 0 0 3
BRAF 1 1 1 0 0 3
BTK 1 1 1 0 0 3
C1R 0 0 2 1 0 3
C2 0 0 3 0 0 3
CARMIL2 0 0 3 0 0 3
CBS 0 1 2 0 0 3
CD22 0 0 3 0 0 3
CD8A 0 0 3 0 0 3
CFH 0 0 3 0 0 3
CFHR4 0 0 3 0 0 3
CLN8 0 0 3 0 0 3
CSF2RA 0 0 3 0 0 3
CXCR1 0 0 3 0 0 3
DNMT3B 0 0 3 0 0 3
DOCK7 0 0 3 0 0 3
DSC2 0 0 3 0 0 3
DSG2 0 0 3 0 0 3
ERCC4 0 0 2 1 0 3
FANCM 0 0 3 0 0 3
FAS 0 0 2 1 0 3
FOXP3 0 0 2 1 0 3
GABRB3 0 0 0 3 0 3
GAMT 0 0 3 0 0 3
GFI1 0 0 2 1 0 3
GLDC 0 1 1 1 0 3
GRIN2B 0 0 3 0 0 3
HAX1 0 0 2 1 0 3
HNRNPU 0 0 3 0 0 3
ICAM1 0 0 3 0 0 3
IFNAR2-IL10RB, IL10RB 0 0 3 0 0 3
IFNGR1 0 0 3 0 0 3
IGLL1 1 0 2 0 0 3
IL12RB1 0 0 2 1 0 3
IL17RA 0 0 3 0 0 3
INO80 0 0 2 1 0 3
ITCH 0 0 3 0 0 3
JAK3 0 0 3 0 0 3
JMJD1C 0 0 1 2 0 3
JUP 0 0 3 0 0 3
KCNJ10 0 0 3 0 0 3
KCNMA1 0 0 2 1 0 3
KCNQ1 1 0 2 0 0 3
KRIT1 3 0 0 0 0 3
LAMA4 0 0 3 0 0 3
LOC126806067, RYR2 0 0 3 0 0 3
MCM4 0 0 3 0 0 3
MLH1 0 0 3 0 0 3
MRE11 0 0 3 0 0 3
MVP-DT, PRRT2 1 1 0 1 0 3
NBN 0 1 2 0 0 3
NFKB2 0 0 3 0 0 3
PAH 2 1 0 0 0 3
PARN 0 1 2 0 0 3
PCDH19 1 1 1 0 0 3
PIGO 0 0 3 0 0 3
PMM2 1 0 2 0 0 3
PNKP 0 1 2 1 0 3
PRICKLE1 0 0 3 0 0 3
PRICKLE2 0 0 3 0 0 3
PSTPIP1 1 0 2 0 0 3
QARS1 0 0 3 0 0 3
RELA 0 0 3 0 0 3
RFXANK 0 0 3 0 0 3
RNF213 1 0 2 0 0 3
RNF31 0 0 3 0 0 3
SAMD9L 0 0 3 0 0 3
SCN3A 0 0 3 0 0 3
SCN8A 0 0 3 0 0 3
SERPING1 1 0 2 0 0 3
SIK1 0 0 2 1 0 3
SLC25A22 0 0 1 2 0 3
SLC29A3 0 0 3 0 0 3
ST3GAL3 1 0 2 0 0 3
STAT1 1 0 1 1 0 3
STAT3 1 0 2 0 0 3
TAP1 0 0 3 0 0 3
TBX1 0 0 3 0 0 3
TBX21 0 0 3 0 0 3
TMC6 0 0 3 0 0 3
TNFAIP3 0 1 2 0 0 3
TPP2 0 0 3 0 0 3
TXNRD2 0 0 3 0 0 3
VAV1 0 0 3 0 0 3
ZBTB24 0 0 3 0 0 3
ZNF341 0 0 3 0 0 3
ABCD1 1 1 0 0 0 2
ACADVL 2 0 0 0 0 2
ADA 0 0 2 0 0 2
ADAM17, IAH1 0 0 1 1 0 2
AIRE 0 0 2 0 0 2
ALDH7A1 1 0 1 0 0 2
ANK2, LOC126807137 0 0 2 0 0 2
ANKRD26 0 0 1 1 0 2
AP3D1 0 0 2 0 0 2
ARPC1B 0 0 1 1 0 2
ASXL1 1 0 1 0 0 2
ATP1A3 0 0 2 0 0 2
ATP7B 2 0 0 0 0 2
BACH2 0 0 2 0 0 2
BAG3 0 0 2 0 0 2
BCL11B 0 0 1 1 0 2
BRAT1 0 0 0 2 0 2
C6 1 1 0 0 0 2
C7 0 0 2 0 0 2
C8G 0 0 2 0 0 2
CACNA2D2, CYB561D2, LOC127898564 0 0 1 1 0 2
CACNB2 0 0 2 0 0 2
CARD14 0 0 1 1 0 2
CARD14, SGSH 0 0 2 0 0 2
CARS2 0 0 2 0 0 2
CASP10 0 0 2 0 0 2
CCBE1 0 0 2 0 0 2
CCR2 0 0 2 0 0 2
CD19 0 0 2 0 0 2
CD209 0 0 2 0 0 2
CD247 0 0 2 0 0 2
CD3E 0 0 2 0 0 2
CD81 0 0 2 0 0 2
CDCA7L, DNAH11 0 2 0 0 0 2
CFI 0 0 1 1 0 2
CHEK2 0 1 1 0 0 2
CHRNA2 0 0 2 0 0 2
COL1A1 0 0 1 0 1 2
COPA 0 0 2 0 0 2
CORO1A 0 0 2 0 0 2
CR2, LOC126805994 0 0 2 0 0 2
CSF2RB 0 0 2 0 0 2
CTLA4 1 1 0 0 0 2
CTSF 0 0 2 0 0 2
CUX2 0 0 2 0 0 2
CXCR4 1 0 1 0 0 2
CYBA 0 0 2 0 0 2
DEPDC5 1 0 1 0 0 2
DTNA 0 0 2 0 0 2
EEF1A2 0 0 1 1 0 2
ELANE 0 0 2 0 0 2
EPM2A, EPM2A-DT, LOC129997381 0 0 1 1 0 2
ERCC6L2 0 0 2 0 0 2
EYA4 0 0 2 0 0 2
FANCF 0 0 2 0 0 2
FASLG 0 0 2 0 0 2
FCGR2A 0 0 2 0 0 2
FCGR3A 0 0 2 0 0 2
FOXF1 0 0 2 0 0 2
FOXG1 0 0 2 0 0 2
G6PC3 0 0 2 0 0 2
GABRD 0 0 2 0 0 2
GABRG2 1 0 1 0 0 2
GAMT, LOC130062945 0 0 2 0 0 2
GATA2 1 0 1 0 0 2
GATA6 0 0 2 0 0 2
GBA1, LOC106627981 0 0 2 0 0 2
GCDH 2 0 0 0 0 2
GCK 0 1 1 0 0 2
GRIN1 0 0 2 0 0 2
GRIN2D 0 0 2 0 0 2
HCN4 0 0 2 0 0 2
HELLS 0 0 1 1 0 2
HFE 1 0 1 0 0 2
IL10RA 0 0 2 0 0 2
IL12B 0 0 2 0 0 2
IL1RN 0 0 2 0 0 2
IL21R 0 0 2 0 0 2
IL21R, LOC130058712 0 0 2 0 0 2
IL4R 0 0 2 0 0 2
IRF7 0 0 2 0 0 2
KCNB1 0 0 2 0 0 2
KCND2 0 0 2 0 0 2
KRAS 1 0 1 0 0 2
LCK 0 0 2 0 0 2
LMNA 0 0 2 0 0 2
LOC102724058, SCN1A 0 0 2 0 0 2
LOC109286563, TBX21 0 0 2 0 0 2
LOC110011216, PHOX2B 1 1 0 0 0 2
LOC114803478, TRAF3IP2 0 0 1 1 0 2
LOC124418421, STIM1 0 0 2 0 0 2
LOC129936736, QARS1 0 0 1 1 0 2
MAGI2 0 0 2 0 0 2
MAGT1 1 0 1 0 0 2
MCFD2, TTC7A 0 0 2 0 0 2
MFSD8 0 0 2 0 0 2
MRTFA 0 0 2 0 0 2
MTHFD1 0 0 2 0 0 2
MVK 0 0 2 0 0 2
MYH6 0 0 2 0 0 2
MYL3 0 1 1 0 0 2
MYO5A 0 0 0 2 0 2
NALCN 0 0 1 1 0 2
NCF2 0 0 1 1 0 2
NEDD4L 0 0 2 0 0 2
OTULIN 0 0 2 0 0 2
PACS1 0 0 1 1 0 2
PHOX2B 2 0 0 0 0 2
PIK3AP1 0 0 2 0 0 2
PIK3R1 0 0 2 0 0 2
PNPO 0 0 2 0 0 2
PRF1 0 0 2 0 0 2
PRKAG2 0 0 2 0 0 2
PRKCD 0 0 2 0 0 2
PSMB8 0 0 1 1 0 2
PTPN6 0 0 2 0 0 2
RAB27A 0 0 2 0 0 2
RAD51C 0 0 2 0 0 2
RAG2 0 0 2 0 0 2
RASA1 0 0 2 0 0 2
RASGRP1 0 0 2 0 0 2
RBCK1 0 0 2 0 0 2
RELN, SLC26A5 0 0 2 0 0 2
RFX5 0 0 2 0 0 2
RMRP 0 0 2 0 0 2
RNASEH2B 1 0 1 0 0 2
RNF168 0 0 2 0 0 2
RUNX1 1 0 0 1 0 2
RYR1 1 1 0 0 0 2
SCN1B 1 1 0 0 0 2
SEMA3A 0 0 0 2 0 2
SLC6A8 0 0 1 1 0 2
SMAD3 0 0 2 0 0 2
SNHG14, UBE3A 1 0 1 0 0 2
SNTA1 0 0 2 0 0 2
SOS2 1 0 1 0 0 2
STING1 2 0 0 0 0 2
STXBP2 0 0 2 0 0 2
TBC1D24 0 0 2 0 0 2
TBXAS1 0 2 0 0 0 2
TCF4 1 1 0 0 0 2
TGM1 1 1 0 0 0 2
THBD 0 0 2 0 0 2
TICAM1 0 0 2 0 0 2
TINF2 0 0 1 1 0 2
TLN1 0 0 2 0 0 2
TLR2 0 0 2 0 0 2
TNNI3 0 2 0 0 0 2
TPM1 0 0 2 0 0 2
TRNT1 0 0 2 0 0 2
TTN 2 0 0 0 0 2
USH2A 1 0 1 0 0 2
VPS45 0 0 2 0 0 2
WAS 1 0 1 0 0 2
ZAP70 0 0 2 0 0 2
ZEB2 0 0 2 0 0 2
ABCC9 0 0 1 0 0 1
ACP5 0 0 1 0 0 1
ACTA2 0 0 1 0 0 1
ACTB 0 1 0 0 0 1
ACVRL1 0 0 1 0 0 1
ADA2 0 0 0 1 0 1
ADAR 0 0 1 0 0 1
ADAR, LOC126805874 0 0 1 0 0 1
AFG2A 0 0 1 0 0 1
AFG3L2 0 0 1 0 0 1
AGL 0 0 1 0 0 1
AICDA 0 0 1 0 0 1
ALDH5A1 0 0 1 0 0 1
ALG13 0 0 1 0 0 1
AMT 1 0 0 0 0 1
ANK3 0 0 1 0 0 1
AOPEP, FANCC 0 0 1 0 0 1
ARHGEF15 0 0 1 0 0 1
ARHGEF9 1 0 0 0 0 1
ARX 0 0 1 0 0 1
ASNS, CZ1P-ASNS 0 0 1 0 0 1
ATP6AP2 0 0 1 0 0 1
B3GALT6 0 0 1 0 0 1
B4GALT7 0 0 1 0 0 1
BCKDHA 1 0 0 0 0 1
BGN 0 0 1 0 0 1
BLNK 0 0 0 0 1 1
BLOC1S6 0 0 1 0 0 1
BRCA2 0 0 1 0 0 1
BSND 1 0 0 0 0 1
C12orf57 0 0 1 0 0 1
C1QA 0 0 1 0 0 1
C1QB 0 0 1 0 0 1
C2, CFB 0 0 1 0 0 1
C5 0 0 1 0 0 1
C8A 0 0 1 0 0 1
CACNA1H 0 0 1 0 0 1
CACNA2D2 0 0 1 0 0 1
CALM2 0 0 1 0 0 1
CALR3 0 0 1 0 0 1
CASP8 0 0 1 0 0 1
CASQ2 0 0 1 0 0 1
CATIP, PNKD 0 0 1 0 0 1
CAVIN4 0 0 1 0 0 1
CCR5, CCR5AS 0 0 1 0 0 1
CD207 0 0 1 0 0 1
CD3D 0 0 1 0 0 1
CD3G 0 0 1 0 0 1
CD4 0 0 1 0 0 1
CD40 0 0 1 0 0 1
CD44 0 0 1 0 0 1
CD46 0 0 1 0 0 1
CD55 0 0 0 1 0 1
CD79A 0 0 1 0 0 1
CD79B, GH-LCR 0 0 1 0 0 1
CDAN1 0 0 1 0 0 1
CDKL5 0 1 0 0 0 1
CEBPA, LOC130064183 0 0 1 0 0 1
CFB 0 0 1 0 0 1
CFD 0 0 1 0 0 1
CFP 0 0 1 0 0 1
CHD7, LOC126860403 0 0 1 0 0 1
CHRNA4, LOC126863087 0 0 1 0 0 1
CHRNB2 0 0 0 1 0 1
CKMT2 0 0 1 0 0 1
CLCN4 0 0 1 0 0 1
CLCN7 0 0 1 0 0 1
CLEC7A 0 0 1 0 0 1
CNTNAP2, LOC126860216 0 0 1 0 0 1
COL1A2 0 1 0 0 0 1
COL6A3 0 1 0 0 0 1
COLEC11 0 0 1 0 0 1
CRKL 0 0 1 0 0 1
CSF2RB, LOC126863140 0 0 1 0 0 1
CSRP3 0 0 1 0 0 1
CTPS1 0 0 1 0 0 1
CTSC 0 0 1 0 0 1
CTSD 0 0 1 0 0 1
CX3CR1 0 0 1 0 0 1
CXCL12 0 0 1 0 0 1
CYBB 0 0 1 0 0 1
CYLD, NOD2 0 0 1 0 0 1
DDX3X 0 0 1 0 0 1
DHX16 0 1 0 0 0 1
DIAPH1 0 0 1 0 0 1
DICER1 0 1 0 0 0 1
DIPK1A, RPL5 0 1 0 0 0 1
DNAH11 1 0 0 0 0 1
DNAJC21 0 0 1 0 0 1
DNM1 0 0 1 0 0 1
DNMT3B, LOC126863014 0 0 1 0 0 1
DOLK 0 0 1 0 0 1
DYRK1A 0 0 1 0 0 1
EEF1A2, LOC132090595 0 0 1 0 0 1
EFEMP2, MUS81 0 0 1 0 0 1
EFHC1 0 0 1 0 0 1
EHMT1 0 0 1 0 0 1
EIF2B2 1 0 0 0 0 1
ELAC2 0 0 1 0 0 1
EMD 0 0 1 0 0 1
ENG, LOC102723566 1 0 0 0 0 1
EPB41L2 0 0 1 0 0 1
EPG5, LOC126862737 0 0 1 0 0 1
EPHB4 0 0 1 0 0 1
EPHB4, LOC126860124 0 0 1 0 0 1
EPM2A 0 0 1 0 0 1
EXTL3 0 0 1 0 0 1
FANCA, ZNF276 0 0 0 1 0 1
FANCB 0 0 1 0 0 1
FANCC 0 0 1 0 0 1
FANCE, LOC129996245 0 0 1 0 0 1
FANCL, VRK2 0 0 1 0 0 1
FARS2, LOC126859565 0 0 1 0 0 1
FBN1, LOC126862124 0 0 1 0 1 1
FBN1, LOC130057019 0 0 1 0 0 1
FCN3 0 0 1 0 0 1
FGFR3 1 0 0 0 0 1
FHOD1 0 0 1 0 0 1
FHOD3 0 0 1 0 0 1
FKTN 0 0 1 0 0 1
FPR1 0 0 1 0 0 1
FRRS1L 0 0 1 0 0 1
G6PC3, LOC130060959 0 0 1 0 0 1
G6PD, IKBKG, LOC108281126 0 0 1 0 0 1
GAA 0 0 1 0 0 1
GABRA1 0 0 1 0 0 1
GARS1 0 0 1 0 0 1
GATA4 0 0 1 0 0 1
GATAD1, LOC129998793 0 0 1 0 0 1
GATM 0 0 1 0 0 1
GLRA1 0 0 1 0 0 1
GNAO1 0 0 1 0 0 1
GNB1 0 0 0 1 0 1
GOSR2, LRRC37A2 0 0 1 0 0 1
GPD1L 0 0 1 0 0 1
GRIN2A 0 0 0 1 0 1
HBA-LCR, NPRL3 0 0 1 0 0 1
HEXA 1 0 0 0 0 1
HOXA11, LOC107126281 0 0 1 0 0 1
HRAS, LRRC56 1 0 0 0 0 1
HYOU1 0 0 1 0 0 1
ICAM1, LIMASI 0 0 1 0 0 1
ICOS 0 0 1 0 0 1
IER3IP1 0 0 1 0 0 1
IFNAR2, IFNAR2-IL10RB 0 0 1 0 0 1
IFNGR2 0 0 1 0 0 1
IKBKB 0 0 1 0 0 1
IKBKG 0 0 1 0 0 1
IL10, IL19, LOC128462409 0 0 1 0 0 1
IL17RA, LOC126863094 0 0 1 0 0 1
IL17RA, LOC129391259 0 0 1 0 0 1
IL17RC 0 0 1 0 0 1
IL2RA 0 0 1 0 0 1
IL2RG 0 1 0 0 0 1
IL2RG, LOC126863274 0 1 0 0 0 1
INVS 0 0 1 0 0 1
IRF2BP2 0 0 1 0 0 1
IRF2BP2, LOC129932812 0 0 1 0 0 1
IRF2BPL 1 0 0 0 0 1
IRF8 0 0 1 0 0 1
ISG15 0 0 1 0 0 1
ITGAM 0 0 1 0 0 1
ITK 0 0 1 0 0 1
JAK1 0 0 1 0 0 1
JAK1, LOC126805749 0 0 1 0 0 1
KCNC1 0 0 1 0 0 1
KCNE1 0 0 1 0 0 1
KCNH1 0 0 1 0 0 1
KCNJ8 0 0 1 0 0 1
KCNK17 0 0 1 0 0 1
KCNQ3 0 0 1 0 0 1
KDM6A 0 0 1 0 0 1
KIT 0 0 1 0 0 1
KMT2D, LOC126861520 0 0 1 0 0 1
KPNA7 0 0 1 0 0 1
KRT10 0 0 0 1 0 1
LAMB3 1 0 0 0 0 1
LAMP2 0 0 1 0 0 1
LAMTOR2 0 0 1 0 0 1
LDB3 0 0 1 0 0 1
LDLR 0 1 0 0 0 1
LIPA 1 0 0 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 1
LMNB2 0 0 0 1 0 1
LMOD2 0 0 1 0 0 1
LOC101928008, SBF2 0 0 1 0 0 1
LOC106029312, NCF1 0 0 1 0 0 1
LOC106780803, TNXB 0 0 1 0 0 1
LOC107648851, TAP2 0 0 1 0 0 1
LOC110121269, SCN5A 0 0 1 0 0 1
LOC112533672, UNC13D 0 0 1 0 0 1
LOC114803470, SCN8A 0 0 1 0 0 1
LOC114827827, NPPA 0 0 1 0 0 1
LOC114827851, MYH6 0 0 1 0 0 1
LOC126806068, RYR2 0 0 1 0 0 1
LOC126806516, NHEJ1 0 0 1 0 0 1
LOC126807127, NFKB1 0 0 1 0 0 1
LOC126807246, PDLIM3 0 0 1 0 0 1
LOC126860875, NEBL 0 0 1 0 0 1
LOC126861897, MYH7 0 0 1 0 0 1
LOC126862575, MAP3K14 0 0 1 0 0 1
LOC129931442, SNX27 0 0 1 0 0 1
LOC129999660, PRKAG2 0 0 1 0 0 1
LOC130000338, MCM4 0 0 1 0 0 1
LOC130006235, UNC93B1 0 0 1 0 0 1
LOC130008987, ORAI1 0 0 1 0 0 1
LOC130009575, RFXAP 1 0 0 0 0 1
LOC130058515, NPIPB2, TNFRSF17 0 0 1 0 0 1
LOC130060550, SLC46A1 0 0 1 0 0 1
LOC130061064, TBX21 0 0 1 0 0 1
LOC130061785, TMC6 0 0 1 0 0 1
LOC130061786, TMC6 0 0 1 0 0 1
LOC130061792, TMC6, TMC8 0 0 1 0 0 1
LOC130061795, TMC8 0 0 1 0 0 1
LOC130064510, TGFB1 0 0 0 0 1 1
LOC130067574, TNFRSF13C 0 0 0 1 0 1
LOC130068854, MECP2 0 0 0 0 1 1
LOX, SRFBP1 0 0 1 0 0 1
MALT1 0 0 1 0 0 1
MAP2K1 1 0 0 0 0 1
MAP3K14 0 0 1 0 0 1
MASP2, TARDBP 0 0 1 0 0 1
MED12 0 0 1 0 0 1
MFN2 1 0 0 0 0 1
MICU1 0 0 1 0 0 1
MS4A1 0 0 1 0 0 1
MSH2 0 0 1 0 0 1
MSH6 0 0 1 0 0 1
MTO1 0 0 1 0 0 1
MYH7 0 0 1 0 0 1
MYL4 0 0 1 0 0 1
MYLK2 0 0 1 0 0 1
MYO18A 0 0 1 0 0 1
MYO18B 0 0 1 0 0 1
MYOZ2 0 0 1 0 0 1
NCF4 0 0 1 0 0 1
NCSTN 0 0 1 0 0 1
NEXN 0 0 1 0 0 1
NFAT5 0 0 1 0 0 1
NFKBIA 0 0 1 0 0 1
NKIRAS1, RPL15 0 0 1 0 0 1
NKX2-5 0 0 1 0 0 1
NPIPB2, TNFRSF17 0 0 1 0 0 1
NPR2 0 0 1 0 0 1
NRAS 1 0 0 0 0 1
OBSCN 0 0 1 0 0 1
ORAI1 0 0 0 1 0 1
OTC 0 1 0 0 0 1
PALB2 0 0 1 0 0 1
PCCB 1 0 0 0 0 1
PHKA2 0 1 0 0 0 1
PIGA 0 0 1 0 0 1
PIK3CD 1 0 0 0 0 1
PKD2 1 0 0 0 0 1
PMS2 0 0 0 0 1 1
PNKD 0 0 1 0 0 1
PNP 0 0 1 0 0 1
POLE2 0 0 1 0 0 1
PRIMA1 0 0 1 0 0 1
PROC 0 0 1 0 0 1
RAC2 1 0 0 0 0 1
RBM8A 0 1 0 0 0 1
RC3H1 0 0 1 0 0 1
RIT1 1 0 0 0 0 1
RNF207 0 0 1 0 0 1
RPL26 0 0 1 0 0 1
RPS24 0 0 0 1 0 1
RPSA 0 0 1 0 0 1
SARS2 0 1 0 0 0 1
SCN2B 0 0 1 0 0 1
SCN4B 0 0 1 0 0 1
SDC1 0 0 1 0 0 1
SELENON 0 1 0 0 0 1
SERPINA1 1 0 0 0 0 1
SGCD 0 0 1 0 0 1
SGCG 0 0 1 0 0 1
SLC12A5 0 0 1 0 0 1
SLC13A5 0 0 1 0 0 1
SLC19A3 0 0 0 1 0 1
SLC25A12 0 0 1 0 0 1
SLC35C1 0 0 1 0 0 1
SLC39A13 0 0 0 1 0 1
SLC46A1 0 0 1 0 0 1
SLC6A1 0 0 1 0 0 1
SLC7A7 0 0 1 0 0 1
SMAD4 1 0 0 0 0 1
SMARCA2 0 0 1 0 0 1
SP110 0 0 1 0 0 1
ST3GAL5 0 0 1 0 0 1
STAT2 0 0 1 0 0 1
STK4 0 0 1 0 0 1
STRADA 0 0 1 0 0 1
SYN1 0 0 1 0 0 1
SYNE1 0 0 1 0 0 1
SYNPO2L 0 0 1 0 0 1
TANGO2 0 0 1 0 0 1
TAPBP 0 0 1 0 0 1
TBK1 0 0 1 0 0 1
TBL1XR1 0 0 1 0 0 1
TBX5 0 0 1 0 0 1
TCAP 0 0 1 0 0 1
TECRL 0 0 1 0 0 1
TFRC 0 0 1 0 0 1
TGFB2 0 0 1 0 0 1
TLR3 0 0 1 0 0 1
TMEM43 0 0 1 0 0 1
TMPO 0 0 1 0 0 1
TNFRSF1A 0 0 1 0 0 1
TNFRSF4 0 0 1 0 0 1
TNFSF12, TNFSF12-TNFSF13 0 0 1 0 0 1
TNFSF12-TNFSF13, TNFSF13 0 0 1 0 0 1
TNNT2 0 0 1 0 0 1
TRAF3 0 0 1 0 0 1
TRAF3IP2 0 0 1 0 0 1
TUBA1A 1 0 0 0 0 1
UNC119 0 0 1 0 0 1
UNC93B1 0 0 1 0 0 1
USB1 0 0 1 0 0 1
WDR1 0 0 1 0 0 1
WDR45 0 0 1 0 0 1
WWOX 0 0 1 0 0 1
XIRP1 0 0 1 0 0 1
XIRP2 0 0 1 0 0 1
ZCCHC8 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 704
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 0 101 5 0 107
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 9 8 17 2 1 37
Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 8 3 17 3 0 31
Cohen syndrome 0 0 22 2 1 25
Chédiak-Higashi syndrome 0 0 17 4 0 21
Ehlers-Danlos syndrome, classic type 0 1 20 0 0 21
Kabuki syndrome 1; Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome 0 2 15 4 0 21
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 0 0 18 1 0 19
Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant 4 0 14 0 0 18
Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2 0 14 1 1 18
Brittle cornea syndrome 1 0 0 8 8 1 17
Congenital contractural arachnodactyly; Macular degeneration, early-onset 0 1 14 1 0 16
Marfan syndrome 6 5 1 2 2 16
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 0 0 14 1 0 15
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 0 0 15 0 0 15
Ectopia lentis et pupillae; Ectopia lentis 2, isolated, autosomal recessive 2 1 12 0 0 15
Kabuki syndrome 1 0 0 15 0 0 15
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 1 1 11 1 0 14
Aortic valve disease 1; Adams-Oliver syndrome 5 0 0 12 1 0 13
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 8 1 1 2 1 13
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 0 0 13 0 0 13
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 0 0 12 1 0 13
Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 0 11 1 0 12
Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 1 1 10 0 0 12
Ehlers-Danlos syndrome, classic type, 2 0 1 9 2 0 12
Epidermodysplasia verruciformis, susceptibility to, 1 0 0 12 0 0 12
Familial cancer of breast; Ataxia-telangiectasia syndrome 2 0 9 1 0 12
Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 0 0 10 2 0 12
Short QT syndrome type 1; Long QT syndrome 2 3 0 8 1 0 12
Cardiac arrhythmia, ankyrin-B-related 0 0 11 0 0 11
Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 11 0 0 11
Combined immunodeficiency due to LRBA deficiency 0 1 9 1 0 11
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 6 0 4 0 1 11
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 10 1 0 0 0 11
Vici syndrome 0 0 11 0 0 11
Weill-Marchesani 4 syndrome, recessive 0 0 10 1 0 11
Aortic aneurysm, familial thoracic 4 0 0 10 0 0 10
Aortic aneurysm, familial thoracic 7 0 0 10 0 0 10
Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 0 0 9 1 0 10
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 0 10 0 0 10
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 0 0 7 3 0 10
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 1 0 8 1 0 10
Ehlers-Danlos syndrome, type 4 0 1 9 0 0 10
Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 0 1 7 2 0 10
Immunodeficiency 104 0 0 10 0 0 10
MHC class I deficiency 0 1 8 0 1 10
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 0 1 8 1 0 10
Systemic lupus erythematosus, susceptibility to, 9; Immunodeficiency, common variable, 7 0 0 10 0 0 10
Blau syndrome; Yao syndrome; Inflammatory bowel disease 1 0 0 9 0 0 9
CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 7 2 0 9
Long QT syndrome 11 0 0 9 0 0 9
MHC class II deficiency 1 0 8 0 0 9
MHC class II deficiency; Rheumatoid arthritis 0 0 9 0 0 9
Severe combined immunodeficiency due to DNA-PKcs deficiency 0 0 9 0 0 9
Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 0 0 8 0 0 8
Combined immunodeficiency due to DOCK8 deficiency 0 0 8 0 0 8
Developmental and epileptic encephalopathy, 5 0 0 6 2 0 8
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 1 7 0 0 8
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 0 8 0 0 8
Hermansky-Pudlak syndrome 2 0 0 7 1 0 8
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 0 0 8 0 0 8
Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 0 0 7 1 0 8
Alstrom syndrome 0 0 7 0 0 7
Blau syndrome; Psoriatic arthritis, susceptibility to; Yao syndrome; Inflammatory bowel disease 1 0 0 7 0 0 7
Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1 0 0 7 0 0 7
Epidermodysplasia verruciformis, susceptibility to, 2 0 0 7 0 0 7
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 0 1 5 1 0 7
Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 7 0 0 7
Familial hemophagocytic lymphohistiocytosis 3 0 0 7 0 0 7
Fanconi anemia complementation group A 2 1 3 1 0 7
Fanconi anemia complementation group P 0 1 6 0 0 7
Fibromatosis, gingival, 1; Noonan syndrome 4 3 1 2 1 0 7
Gastrointestinal defects and immunodeficiency syndrome 1 0 0 7 0 0 7
Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2 1 2 3 1 0 7
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 0 0 7 0 0 7
Majeed syndrome 0 0 7 0 0 7
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 3 0 4 0 0 7
Netherton syndrome 0 0 7 0 0 7
Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 1 0 5 1 0 7
Weill-Marchesani syndrome 1 0 0 6 1 0 7
Action myoclonus-renal failure syndrome 0 1 5 0 0 6
Asthma, nasal polyps, and aspirin intolerance; Immunodeficiency 88 0 0 6 0 0 6
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A 5 1 0 0 0 6
C1Q deficiency 0 0 6 0 0 6
Catecholaminergic polymorphic ventricular tachycardia 5 0 1 5 0 0 6
Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1; Hearing loss, autosomal dominant 34, with or without inflammation 0 0 6 0 0 6
Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 0 6 0 0 6
Dilated cardiomyopathy 1DD 0 0 6 0 0 6
Ehlers-Danlos syndrome, classic type, 1 1 0 5 0 0 6
Familial cold autoinflammatory syndrome 2 0 0 5 1 0 6
Fanconi anemia complementation group I 0 0 4 1 1 6
Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilated, 2E 0 0 6 0 0 6
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2 0 4 0 0 6
Immunodeficiency 105 0 0 6 0 0 6
Leukocyte adhesion deficiency 1 0 1 2 2 1 6
Luscan-Lumish syndrome; Rabin-Pappas syndrome; Intellectual developmental disorder, autosomal dominant 70 0 0 5 1 0 6
Microspherophakia; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3 0 0 6 0 0 6
Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2 0 4 0 0 6
Myopathy, tubular aggregate, 1; Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency 0 0 6 0 0 6
Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 0 0 5 1 0 6
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 0 0 6 0 0 6
Predisposition to invasive fungal disease due to CARD9 deficiency 0 0 6 0 0 6
Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis 0 0 5 1 0 6
Susceptibility to HIV infection 0 0 6 0 0 6
Weill-Marchesani syndrome 3 0 0 6 0 0 6
3MC syndrome 1 0 0 5 0 0 5
Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 0 0 3 2 0 5
Arrhythmogenic right ventricular dysplasia 9 1 1 3 0 0 5
Arterial tortuosity syndrome 0 1 3 1 0 5
Asthma, nasal polyps, and aspirin intolerance 0 0 5 0 0 5
Autoimmune lymphoproliferative syndrome type 1 0 0 4 1 0 5
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 5 0 0 5
Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 0 0 5 0 0 5
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2 0 0 4 0 1 5
Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1 1 2 1 0 5
Complement component 9 deficiency; Age related macular degeneration 15 0 1 4 0 0 5
Cutis laxa, autosomal recessive, type 1B 0 0 4 1 0 5
DNA ligase IV deficiency; Multiple myeloma 1 0 4 0 0 5
Deficiency of guanidinoacetate methyltransferase 0 0 5 0 0 5
Developmental and epileptic encephalopathy, 18 0 0 4 1 0 5
Dyskeratosis congenita, autosomal recessive 3 0 0 5 0 0 5
Fanconi anemia complementation group L 0 1 4 0 0 5
Fibrous dysplasia of jaw 0 0 5 0 0 5
Hepatic veno-occlusive disease-immunodeficiency syndrome; Mycobacterium tuberculosis, susceptibility to 0 0 5 0 0 5
Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 5 0 0 5
Hyperphosphatasia with intellectual disability syndrome 1 0 0 4 1 0 5
Immunodeficiency 23 0 0 5 0 0 5
Immunodeficiency 35 0 0 4 1 0 5
Immunodeficiency 51 0 0 5 0 0 5
Immunodeficiency due to MASP-2 deficiency 0 0 5 0 0 5
Intellectual disability, autosomal dominant 1 0 0 4 1 0 5
Koolen-de Vries syndrome 0 0 5 0 0 5
Leukocyte adhesion deficiency 3 0 0 5 0 0 5
Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, hereditary nonpolyposis, type 6 0 0 4 1 0 5
Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2 1 1 1 0 5
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2 0 3 0 0 5
Multiple gastrointestinal atresias 0 0 5 0 0 5
Schimke immuno-osseous dysplasia 0 0 5 0 0 5
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 0 1 4 0 0 5
Shprintzen-Goldberg syndrome 0 0 5 0 0 5
Shwachman-Diamond syndrome 1; Aplastic anemia 3 0 2 0 0 5
Transcobalamin II deficiency 1 0 4 0 0 5
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 5 0 0 5
Adenylosuccinate lyase deficiency 0 0 4 0 0 4
Agammaglobulinemia 8, autosomal dominant; Agammaglobulinemia 8b, autosomal recessive 0 0 4 0 0 4
Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 0 0 4 0 0 4
Amelocerebrohypohidrotic syndrome 0 0 4 0 0 4
Arrhythmogenic right ventricular dysplasia 1; Rienhoff syndrome 0 1 3 0 0 4
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 0 0 4 0 0 4
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 4 0 0 4
Bloom syndrome 0 0 4 0 0 4
Cerebroretinal microangiopathy with calcifications and cysts 1 0 0 3 1 0 4
Ceroid lipofuscinosis, neuronal, 6A; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 0 0 3 1 0 4
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 0 0 4 0 0 4
Complement component 2 deficiency; Age related macular degeneration 14 0 0 4 0 0 4
Complement component C1s deficiency; Ehlers-Danlos syndrome, periodontal type 2 0 0 4 0 0 4
Developmental and epileptic encephalopathy 94 1 0 3 0 0 4
Developmental and epileptic encephalopathy, 12 0 1 2