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:

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
190 96 1675 160 21 2137

Gene and significance breakdown #

Total genes and gene combinations: 741
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FBN1 21 14 14 4 2 55
TSC2 8 3 18 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 16 1 1 18
FBN2 0 2 14 1 0 17
ZNF469 0 0 8 8 1 17
ADAMTSL4 2 1 11 1 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
SCN5A 0 0 14 0 0 14
COL5A2 1 0 10 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
POLG 2 1 7 2 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 1 11
SCN2A 0 2 8 1 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
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 6 0 1 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 6 1 0 7
RYR2 0 0 7 0 0 7
RYR3 0 0 5 1 1 7
SLX4 0 1 6 0 0 7
SPINK5 0 0 6 1 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 0 6 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 0 1 3 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 4 1 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
C2 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 3 1 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
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
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 2 1 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 1 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 2 1 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
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, 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
DNM1 1 0 1 0 0 2
DSG2 0 0 2 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
POLG, POLGARF 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
ABCD1 1 0 0 0 0 1
ABCD1, PLXNB3 0 1 0 0 0 1
ACP5 0 0 0 1 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
AVPR2 1 0 0 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
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
COL4A5 1 0 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, LOC113839516 1 0 0 0 0 1
DNMT3B, LOC126863014 0 0 1 0 0 1
DOLK 0 0 1 0 0 1
DSC2, DSG2 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, LOC107984638 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
SMARCA4 0 1 0 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: 717
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 0 99 5 0 105
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 10 7 16 2 1 36
Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 8 2 18 3 0 31
Cohen syndrome 0 0 22 2 1 25
Marfan syndrome 11 7 1 2 2 23
Chédiak-Higashi syndrome 0 0 17 4 0 21
Ehlers-Danlos syndrome, classic type 1 1 19 0 0 21
Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 2 15 4 0 21
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 0 0 17 1 0 18
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
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
Kabuki syndrome 1 0 0 15 0 0 15
Ectopia lentis et pupillae; Ectopia lentis 2, isolated, autosomal recessive 2 1 11 0 0 14
Aortic valve disease 1; Adams-Oliver syndrome 5 0 0 12 1 0 13
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 2 1 9 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
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
Ehlers-Danlos syndrome, classic type, 2 0 0 9 2 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; 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
CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 7 2 0 9
Long QT syndrome 11 0 0 9 0 0 9
Rheumatoid arthritis; MHC class II deficiency 1 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
Blau syndrome; Yao syndrome; Inflammatory bowel disease 1 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
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
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 1 6 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 6 1 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
MHC class II deficiency 1 0 6 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 6 1 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 0 6 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 0 1 3 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 4 1 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 1 0 4
Developmental and epileptic encephalopathy, 24; Generalized epilepsy with febrile seizures plus, type 10 0 0 3 1 0 4
Developmental and epileptic encephalopathy, 77 0 0 3 1 0 4
Dilated cardiomyopathy 1KK; MYPN-related myopathy 0 0 4 0 0 4
Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 0 0 4 0 0 4
Epilepsy, familial adult myoclonic, 5 0 0 3 1 0 4
Fanconi anemia complementation group D2 0 0 4 0 0 4
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 0 0 4 0 0 4
Glycine encephalopathy 1 1 1 1 0 4
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 0 0 4 0 0 4
IgE responsiveness, atopic; Cryptosporidiosis-chronic cholangitis-liver disease syndrome 0 0 4 0 0 4
LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1NN 0 1 3 0 0 4
Left ventricular noncompaction 8 0 0 4 0 0 4
Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma 1 0 2 1 0 4
MOGS-congenital disorder of glycosylation 0 0 4 0 0 4
Malaria, susceptibility to 0 0 3 1 0 4
Neuroblastoma, susceptibility to, 2; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 3 1 0 0 0 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 0 0 4 0 0 4
Pityriasis rubra pilaris; Psoriasis 2 0 0 3 1 0 4
Primary erythromelalgia; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 0 4 0 0 4
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 0 0 4 0 0 4
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 1 1 2 0 0 4
Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; Immunodeficiency 11b with atopic dermatitis 0 1 3 0 0 4
T-cell immunodeficiency, congenital alopecia, and nail dystrophy; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 0 0 4 0 0 4
Type II complement component 8 deficiency 0 0 4 0 0 4
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 0 0 3 1 0 4
Wiskott-Aldrich syndrome 2 0 0 4 0 0 4
X-linked intellectual disability, Cantagrel type 0 0 3 1 0 4
Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 2 1 0 3
Agammaglobulinemia 2, autosomal recessive 1 0 2 0 0 3
Agammaglobulinemia 8, autosomal dominant 0 0 3 0 0 3
Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 0 0 3 0 0 3
Arrhythmogenic right ventricular dysplasia 11 0 0 3 0 0 3
Atrial fibrillation, familial, 3; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 1 0 2 0 0 3
Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome 0 0 3 0 0 3
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 0 0 3 0 0 3
Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 0 0 3 0 0 3
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer 1 1 1 0 0 3
Cerebellar atrophy with seizures and variable developmental delay 0 0 2 1 0 3
Cerebral cavernous malformation 3 0 0 0 0 3
Chronic myeloid leukemia; Acute lymphoid leukemia 0 0 3 0 0 3
Classic homocystinuria 0 1 2 0 0 3
Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 0 0 3 0 0 3
DNA ligase IV deficiency 1 0 2 0 0 3
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach 3 0 0 0 0 3
Developmental and epileptic encephalopathy, 23 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 3 0 0 1 2 0 3
Developmental and epileptic encephalopathy, 30 0 0 2 1 0 3
Developmental and epileptic encephalopathy, 54 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 62; Epilepsy, familial focal, with variable foci 4 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 9 1 1 1 0 0 3
Dias-Logan syndrome 0 0 3 0 0 3
Dilated cardiomyopathy 1AA; Myopathy, congenital, with structured cores and z-line abnormalities; Myopathy, distal, 6, adult-onset, autosomal dominant 0 0 3 0 0 3
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 0 3 0 0 3
Dilated cardiomyopathy 1JJ 0 0 3 0 0 3
Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 0 1 2 0 0 3
Ehlers-Danlos syndrome, dermatosparaxis type 0 0 3 0 0 3
Ehlers-Danlos syndrome, periodontal type 1 0 0 2 1 0 3
Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43 0 0 0 3 0 3
Epilepsy, progressive myoclonic, 1B 0 0 3 0 0 3
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 0 0 3 0 0 3
Familial temporal lobe epilepsy 5; Febrile seizures, familial, 11 0 0 3 0 0 3
Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome 0 0 2 1 0 3
Glucocorticoid deficiency 5 0 0 3 0 0 3
H syndrome 0 0 3 0 0 3
Hereditary angioedema type 1; C1 inhibitor deficiency 1 0 2 0 0 3
Hereditary neutrophilia; Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 0 0 3 0 0 3
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3-related early-onset multisystem autoimmune disease 1 0 2 0 0 3
Hyper-IgE recurrent infection syndrome 3, autosomal recessive 0 0 3 0 0 3
Hyperphosphatasia with intellectual disability syndrome 2 0 0 3 0 0 3
Immunodeficiency 27A; Hepatitis B virus, susceptibility to; Helicobacter pylori infection, susceptibility to; Mycobacterium tuberculosis, susceptibility to; Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 0 0 3 0 0 3
Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 1 0 1 1 0 3
Immunodeficiency 78 with autoimmunity and developmental delay 0 0 3 0 0 3
Immunodeficiency, common variable, 10 0 0 3 0 0 3
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 0 0 3 0 0 3
Immunodeficiency-centromeric instability-facial anomalies syndrome 1; Facioscapulohumeral muscular dystrophy 4, digenic 0 0 3 0 0 3
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 0 0 3 0 0 3
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 0 2 1 0 3
Intellectual disability, autosomal dominant 38; Developmental and epileptic encephalopathy, 33 0 0 2 1 0 3
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 0 0 3 0 0 3
Intellectual disability, autosomal recessive 12; Developmental and epileptic encephalopathy, 15 1 0 2 0 0 3
Kostmann syndrome 0 0 2 1 0 3
Lafora disease 0 0 2 1 0 3
Lethal congenital glycogen storage disease of heart; Hypertrophic cardiomyopathy 6; Wolff-Parkinson-White pattern 0 0 3 0 0 3
Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6 0 0 3 0 0 3
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 0 0 2 1 0 3
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 0 1 2 0 0 3
Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 0 0 3 0 0 3
Monosomy 7 myelodysplasia and leukemia syndrome 1; Ataxia-pancytopenia syndrome; Spinocerebellar ataxia 49 0 0 3 0 0 3
Moyamoya disease 2 1 0 2 0 0 3
Mucocutaneous ulceration, chronic 0 0 3 0 0 3
Naxos disease; Arrhythmogenic right ventricular dysplasia 12 0 0 3 0 0 3
Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 1 0 2 0 0 3
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant; Neuronal ceroid lipofuscinosis 8 0 0 3 0 0 3
Nonimmune chronic idiopathic neutropenia of adults; Neutropenia, severe congenital, 2, autosomal dominant 0 0 2 1 0 3
Noonan syndrome 1; LEOPARD syndrome 1 3 0 0 0 0 3
PMM2-congenital disorder of glycosylation 1 0 2 0 0 3
Phenylketonuria 2 1 0 0 0 3
Phosphate transport defect; Glucose-6-phosphate transport defect 0 0 3 0 0 3
Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 0 0 2 1 0 3
Primary ciliary dyskinesia 7 1 2 0 0 0 3
Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 0 0 3 0 0 3
Psoriasis 13, susceptibility to; Candidiasis, familial, 8 0 0 2 1 0 3
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 1 0 2 0 0 3
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis 1 1 0 1 0 3
Severe combined immunodeficiency due to CARMIL2 deficiency 0 0 3 0 0 3
Spermatogenic failure 28; Premature ovarian failure 15 0 0 3 0 0 3
Surfactant metabolism dysfunction, pulmonary, 5 0 0 3 0 0 3
Susceptibility to respiratory infections associated with CD8alpha chain mutation 0 0 3 0 0 3
Syndromic multisystem autoimmune disease due to ITCH deficiency 0 0 3 0 0 3
T-B+ severe combined immunodeficiency due to JAK3 deficiency 0 0 3 0 0 3
Trichohepatoenteric syndrome 1 0 0 3 0 0 3
X-linked agammaglobulinemia; X-linked agammaglobulinemia with growth hormone deficiency 1 1 1 0 0 3
Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia complementation group Q 0 0 2 1 0 3
Acute myeloid leukemia; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Myelodysplastic syndrome 1 0 1 0 0 2
Adrenoleukodystrophy 1 1 0 0 0 2
Aicardi-Goutieres syndrome 2 1 0 1 0 0 2
Alveolar capillary dysplasia with pulmonary venous misalignment 0 0 2 0 0 2
Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 0 0 2 0 0 2
Aneurysm-osteoarthritis syndrome 0 0 2 0 0 2
Angelman syndrome 1 0 1 0 0 2
Aplastic anemia; Familial hemophagocytic lymphohistiocytosis 2; Lymphoma, non-Hodgkin, familial 0 0 2 0 0 2
Ataxia-telangiectasia-like disorder 1 0 0 2 0 0 2
Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 0 0 1 1 0 2
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder 0 0 2 0 0 2
Autoimmune interstitial lung disease-arthritis syndrome 0 0 2 0 0 2
Autoimmune lymphoproliferative syndrome type 2A; Gastric cancer; Lymphoma, non-Hodgkin, familial 0 0 2 0 0 2
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 0 0 2 0 0 2
Autoinflammation, immune dysregulation, and eosinophilia 0 0 2 0 0 2
Autoinflammatory syndrome, familial, Behcet-like 0 0 2 0 0 2
Autosomal dominant nocturnal frontal lobe epilepsy 4 0 0 2 0 0 2
Autosomal recessive congenital ichthyosis 1 1 1 0 0 0 2
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 0 0 2 0 0 2
Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1 0 0 2 0 0 2
Blau syndrome 0 0 1 0 1 2
Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 0 0 2 0 0 2
Brugada syndrome 4 0 0 2 0 0 2
Celiac disease, susceptibility to, 3; Type 1 diabetes mellitus 12; Hashimoto thyroiditis; Systemic lupus erythematosus; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 1 1 0 0 0 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 1 1 0 0 0 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2 0 0 2 0 0 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99 0 0 2 0 0 2
Charcot-Marie-Tooth disease type 2B2; Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4 0 1 0 1 0 2
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 0 0 2 0 0 2
Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 0 0 1 1 0 2
Combined immunodeficiency due to ZAP70 deficiency; Autoimmune disease, multisystem, infantile-onset, 2 0 0 2 0 0 2
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0 0 2 0 0 2
Combined immunodeficiency, X-linked; X-linked severe combined immunodeficiency 0 2 0 0 0 2
Combined oxidative phosphorylation defect type 27 0 0 2 0 0 2
Complement component 6 deficiency 1 1 0 0 0 2
Complement component 7 deficiency 0 0 2 0 0 2
Congenital contractural arachnodactyly 0 1 1 0 0 2
Congenital defect of folate absorption 0 0 2 0 0 2
Congenital neutropenia-myelofibrosis-nephromegaly syndrome 0 0 2 0 0 2
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome; Retinitis pigmentosa and erythrocytic microcytosis 0 0 2 0 0 2
Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9 0 0 2 0 0 2
Creatine transporter deficiency 0 0 1 1 0 2
Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 0 0 2 0 0 2
Cystic fibrosis; Systemic lupus erythematosus; Malaria, susceptibility to 0 0 2 0 0 2
DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65 0 0 2 0 0 2
Developmental and epileptic encephalopathy 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 26 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 46 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 67 0 0 2 0 0 2
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2 0 0 0 0 2
Dilated cardiomyopathy 1J; Autosomal dominant nonsyndromic hearing loss 10 0 0 2 0 0 2
Dilated cardiomyopathy 2A; Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Hypertrophic cardiomyopathy 7 0 2 0 0 0 2
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2 0 0 2 0 0 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8 1 0 1 0 0 2
Epilepsy, familial focal, with variable foci 1 1 0 1 0 0 2
Epilepsy, idiopathic generalized, susceptibility to, 10 0 0 2 0 0 2
FOXG1 disorder 0 0 2 0 0 2
Familial cancer of breast; CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer; Colorectal cancer 0 1 1 0 0 2
Familial hemophagocytic lymphohistiocytosis 5 0 0 2 0 0 2
Fanconi anemia complementation group C 0 0 2 0 0 2
Fanconi anemia complementation group F 0 0 2 0 0 2
Febrile seizures, familial, 8; Developmental and epileptic encephalopathy, 74 1 0 1 0 0 2
Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 1 1 0 0 0 2
Ghosal hematodiaphyseal dysplasia; Thromboxane synthetase deficiency 0 2 0 0 0 2
Glutaric aciduria, type 1 2 0 0 0 0 2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 0 0 2 0 0 2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 0 0 1 1 0 2
Griscelli syndrome type 1 0 0 0 2 0 2
Griscelli syndrome type 2 0 0 2 0 0 2
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 0 0 2 0 0 2
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 2 0 0 2
Hepatitis B virus, susceptibility to; Inflammatory bowel disease 25 0 0 2 0 0 2
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Acute myeloid leukemia 1 0 0 1 0 2
Hermansky-Pudlak syndrome 10 0 0 2 0 0 2
Herpes simplex encephalitis, susceptibility to, 1 0 0 2 0 0 2
Herpes simplex encephalitis, susceptibility to, 4 0 0 2 0 0 2
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 0 0 2 0 0 2
Hypertrophic cardiomyopathy 3; Dilated cardiomyopathy 1Y 0 0 2 0 0 2
Hypertrophic cardiomyopathy 8 0 1 1 0 0 2
Hypogonadotropic hypogonadism 16 with or without anosmia 0 0 0 2 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1; Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 1 1 0 2
IgE responsiveness, atopic; Susceptibility to HIV infection 0 0 2 0 0 2
Immunodeficiency 0 0 2 0 0 2
Immunodeficiency 18 0 0 2 0 0 2
Immunodeficiency 25 0 0 2 0 0 2
Immunodeficiency 27A; Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 0 0 2 0 0 2
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Autoinflammatory disease, X-linked 0 0 2 0 0 2
Immunodeficiency 39 0 0 2 0 0 2
Immunodeficiency 49; Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 0 1 1 0 2
Immunodeficiency 60 0 0 2 0 0 2
Immunodeficiency 64 0 0 2 0 0 2
Immunodeficiency 66 0 0 2 0 0 2
Immunodeficiency, common variable, 14 0 0 2 0 0 2
Immunodeficiency, common variable, 3 0 0 2 0 0 2
Immunodeficiency, common variable, 6 0 0 2 0 0 2
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 0 0 1 1 0 2
Inflammatory bowel disease 28 0 0 2 0 0 2
Inflammatory skin and bowel disease, neonatal, 1 0 0 1 1 0 2
Left ventricular noncompaction 1 0 0 2 0 0 2
Leprosy, susceptibility to, 3; Mycobacterium tuberculosis, susceptibility to; Colorectal cancer 0 0 2 0 0 2
Long QT syndrome 12 0 0 2 0 0 2
Luscan-Lumish syndrome 0 0 2 0 0 2
Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2 0 0 2 0 0 2
MHC class II deficiency 1 0 0 2 0 0 2
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency 0 0 2 0 0 2
Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 0 0 2 0 0 2
Microvascular complications of diabetes, susceptibility to, 4; Sterile multifocal osteomyelitis with periostitis and pustulosis; Gastric cancer 0 0 2 0 0 2
Mowat-Wilson syndrome 0 0 2 0 0 2
Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 0 0 2 0 0 2
Neonatal-onset encephalopathy with rigidity and seizures; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 0 0 2 0 2
Nephrotic syndrome 15 0 0 2 0 0 2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 0 2 0 0 2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; Developmental and epileptic encephalopathy 101 0 0 2 0 0 2
Neurofibromatosis, type 1 1 0 1 0 0 2
Neuronal ceroid lipofuscinosis 13 0 0 2 0 0 2
Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement 0 0 2 0 0 2
Noonan syndrome 1; Metachondromatosis; LEOPARD syndrome 1 1 1 0 0 0 2
Noonan syndrome 9 1 0 1 0 0 2
Normophosphatemic familial tumoral calcinosis; MIRAGE syndrome 0 0 2 0 0 2
Normophosphatemic familial tumoral calcinosis; MIRAGE syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 2 0 0 1 1 0 2
Pancytopenia-developmental delay syndrome 0 0 2 0 0 2
Paroxysmal nonkinesigenic dyskinesia 1 0 0 2 0 0 2
Periventricular nodular heterotopia 7 0 0 2 0 0 2
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 1 1 0 0 0 2
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 0 0 1 1 0 2
Polyglandular autoimmune syndrome, type 1 0 0 2 0 0 2
Polyglucosan body myopathy type 1 0 0 2 0 0 2
Proteasome-associated autoinflammatory syndrome 1 0 0 1 1 0 2
Pyridoxal phosphate-responsive seizures 0 0 2 0 0 2
Pyridoxine-dependent epilepsy 1 0 1 0 0 2
RIDDLE syndrome 0 0 2 0 0 2
Radial aplasia-thrombocytopenia syndrome 1 1 0 0 0 2
Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 0 0 1 1 0 2
SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 with lymphoproliferation 0 0 2 0 0 2
Schuurs-Hoeijmakers syndrome 0 0 1 1 0 2
Severe combined immunodeficiency due to CORO1A deficiency 0 0 2 0 0 2
Severe combined immunodeficiency due to LCK deficiency 0 0 2 0 0 2
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0 0 2 0 0 2
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 0 0 2 0 0 2
Susceptibility to HIV infection; Mycobacterium tuberculosis, susceptibility to; Dengue virus, susceptibility to 0 0 2 0 0 2
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 0 0 2 0 0 2
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 0 0 2 0 0 2
Thrombocytopenia 2 0 0 1 1 0 2
Type 2 diabetes mellitus; Hyperinsulinemic hypoglycemia, familial, 3; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 0 1 1 0 0 2
Usher syndrome type 2A; Retinitis pigmentosa 39 1 0 1 0 0 2
Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Alzheimer disease type 1; Hemochromatosis type 1; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Familial porphyria cutanea tarda 1 0 1 0 0 2
Very long chain acyl-CoA dehydrogenase deficiency 2 0 0 0 0 2
WHIM syndrome 1 1 0 1 0 0 2
Wilson disease 2 0 0 0 0 2
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 1 0 1 0 0 2
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 1 0 1 0 0 2
3MC syndrome 2 0 0 1 0 0 1
Absence seizure; Juvenile myoclonic epilepsy 0 0 1 0 0 1
Achondroplasia; Hypochondroplasia 1 0 0 0 0 1
Acne inversa, familial, 1 0 0 1 0 0 1
Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome; Short stature with nonspecific skeletal abnormalities 1 0 0 1 0 0 1
Acute lymphoid leukemia; Myelodysplastic syndrome; Intellectual disability, autosomal dominant 42 0 0 0 1 0 1
Acute myeloid leukemia 0 0 1 0 0 1
Afibrinogenemia; Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13 0 0 1 0 0 1
Agammaglobulinemia 3, autosomal recessive 0 0 1 0 0 1
Agammaglobulinemia 4, autosomal recessive 0 0 0 0 1 1
Agammaglobulinemia 6, autosomal recessive 0 0 1 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 1 0 0 1
Alpha-1-antitrypsin deficiency 1 0 0 0 0 1
Alport syndrome 1 0 0 0 0 1
Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 1 0 0 0 0 1
Anemia, congenital dyserythropoietic, type 1a 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 10 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5 0 0 1 0 0 1
Arginine:glycine amidinotransferase deficiency 0 0 1 0 0 1
Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3 0 0 1 0 0 1
Atrial fibrillation, familial, 14 0 0 1 0 0 1
Atrial fibrillation, familial, 18 0 0 1 0 0 1
Atrial fibrillation, familial, 6; Atrial standstill 2 0 0 1 0 0 1
Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease 0 0 1 0 0 1
Atrial septal defect 7; Conotruncal heart malformations; Hypothyroidism, congenital, nongoitrous, 5; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with B factor anomaly; Age related macular degeneration 14; Complement factor b deficiency 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 0 0 1 0 0 1
Autoimmune lymphoproliferative syndrome type 1; Lung cancer 0 0 1 0 0 1
Autoimmune lymphoproliferative syndrome type 2A; Neoplasm of stomach 0 0 1 0 0 1
Autoimmune lymphoproliferative syndrome type 2B 0 0 1 0 0 1
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive 0 0 1 0 0 1
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive; Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection 0 0 1 0 0 1
Autoinflammatory syndrome, familial, Behcet-like 1 0 1 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 3 0 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 0 1 0 0 1
Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4 0 0 1 0 0 1
Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4; Hypopigmentation, organomegaly, and delayed myelination and development 0 0 1 0 0 1
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2G; Hypertrophic cardiomyopathy 25 0 0 1 0 0 1
Baraitser-Winter syndrome 0 1 0 0 0 1
Bartter disease type 4A 1 0 0 0 0 1
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27 0 1 0 0 0 1
Biotin-responsive basal ganglia disease 0 0 0 1 0 1
Birbeck granule deficiency 0 0 1 0 0 1
Blood group, Indian system 0 0 1 0 0 1
Bohring-Opitz syndrome 1 0 0 0 0 1
Bohring-Opitz syndrome; Myelodysplastic syndrome 0 0 1 0 0 1
Bone marrow failure syndrome 3 0 0 1 0 0 1
Brugada syndrome 2 0 0 1 0 0 1
Candidiasis, familial, 8 0 0 1 0 0 1
Candidiasis, familial, 9 0 0 1 0 0 1
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 1 0 0 0 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 0 0 1
Cardiomyopathy, dilated, 2G 0 0 1 0 0 1
Cardiomyopathy, familial hypertrophic, 28 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 2 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 3 0 0 1 0 0 1
Cernunnos-XLF deficiency 0 0 1 0 0 1
Ceroid lipofuscinosis, neuronal, 6A; Adult neuronal ceroid lipofuscinosis 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4B2 0 0 1 0 0 1
Chronic obstructive pulmonary disease; Alpha-1-antitrypsin deficiency 1 0 0 0 0 1
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 0 0 1 0 0 1
Combined immunodeficiency due to CD3gamma deficiency 0 0 1 0 0 1
Combined immunodeficiency due to CTPS1 deficiency 0 0 1 0 0 1
Combined immunodeficiency due to MALT1 deficiency 0 0 1 0 0 1
Combined immunodeficiency due to OX40 deficiency 0 0 1 0 0 1
Combined immunodeficiency due to STK4 deficiency 0 0 1 0 0 1
Combined immunodeficiency with faciooculoskeletal anomalies; Immunodeficiency 14; Immunodeficiency 14b, autosomal recessive 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 14; Hereditary spastic paraplegia 77 0 0 1 0 0 1
Complement component 5 deficiency 0 0 1 0 0 1
Complement component 5 deficiency; Eculizumab, poor response to 0 0 1 0 0 1
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome; Cromer blood group system 0 0 0 1 0 1
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 0 1 0 0 1
Congenital reticular ichthyosiform erythroderma; Ichthyosis hystrix gravior; Ichthyosis, annular epidermolytic 1; Epidermolytic hyperkeratosis 1 0 0 0 1 0 1
Coronary heart disease, susceptibility to, 1; Susceptibility to HIV infection; Age related macular degeneration 12 0 0 1 0 0 1
DK1-congenital disorder of glycosylation 0 0 1 0 0 1
DYRK1A-related intellectual disability syndrome 0 0 1 0 0 1
Danon disease 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 11 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 17; Neurodevelopmental disorder with involuntary movements 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, ARX-related; Corpus callosum agenesis-abnormal genitalia syndrome; X-linked lissencephaly with abnormal genitalia; Partington syndrome 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 24 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 25 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 31A 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 34; Epilepsy, idiopathic generalized, susceptibility to, 14 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 36 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 37 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 39 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 8 1 0 0 0 0 1
Diabetes mellitus type 1; Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 0 1 0 0 1
Diamond-Blackfan anemia 11 0 0 1 0 0 1
Diamond-Blackfan anemia 12 0 0 1 0 0 1
Diamond-Blackfan anemia 3 0 0 0 1 0 1
Diamond-Blackfan anemia 6 0 1 0 0 0 1
Diaphyseal dysplasia; Cystic fibrosis; Inflammatory bowel disease, immunodeficiency, and encephalopathy 0 0 0 0 1 1
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 0 0 1 0 1
Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 0 0 1 0 0 1
Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 0 0 1 0 0 1
Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 0 0 1 0 0 1
Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 0 0 1 0 0 1
Dilated cardiomyopathy 2B 0 0 1 0 0 1
Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 0 1 0 0 1
Ectodermal dysplasia and immunodeficiency 2 0 0 1 0 0 1
Ectopia lentis 2, isolated, autosomal recessive 0 0 0 1 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 0 0 1 1
Ehlers-Danlos syndrome progeroid type 0 0 1 0 0 1
Ehlers-Danlos syndrome, spondylocheirodysplastic type 0 0 0 1 0 1
Ehlers-Danlos syndrome, spondylodysplastic type, 1 0 0 1 0 0 1
Eichsfeld type congenital muscular dystrophy; Congenital myopathy 4A, autosomal dominant 0 1 0 0 0 1
Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3 0 0 1 0 0 1
Epilepsy with myoclonic atonic seizures 0 0 1 0 0 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders; Intellectual disability, X-linked 50 0 0 1 0 0 1
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 0 0 1 0 0 1
Epilepsy, familial focal, with variable foci 3 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epileptic encephalopathy, 19 0 0 1 0 0 1
Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 0 1 0 0 0 1
Familial cancer of breast 0 0 0 0 1 1
Familial cancer of breast; Autoimmune lymphoproliferative syndrome type 2B; Hepatocellular carcinoma; Lung cancer 0 0 1 0 0 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer 0 0 1 0 0 1
Familial cancer of breast; CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer 0 1 0 0 0 1
Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3 0 0 1 0 0 1
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer 1 0 0 0 0 1
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer 0 0 1 0 0 1
Familial cancer of breast; Pancreatic cancer, susceptibility to, 3 0 0 1 0 0 1
Familial chronic mucocutaneous candidiasis 0 0 1 0 0 1
Familial chronic mucocutaneous candidiasis; Aspergillosis, susceptibility to 0 0 1 0 0 1
Familial isolated congenital asplenia 0 0 1 0 0 1
Fanconi anemia complementation group B 0 0 1 0 0 1
Fanconi anemia complementation group E 0 0 1 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 0 1 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 0 0 1 0 0 1
GM3 synthase deficiency 0 0 1 0 0 1
Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis 0 0 1 0 0 1
Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures 0 0 1 0 0 1
Genetic developmental and epileptic encephalopathy 0 0 0 0 1 1
Glycine encephalopathy 1 0 1 0 0 0 1
Glycine encephalopathy 2 1 0 0 0 0 1
Glycogen storage disease IXa1 0 1 0 0 0 1
Glycogen storage disease type III 0 0 1 0 0 1
Glycogen storage disease, type II 0 0 1 0 0 1
Granulocytopenia with immunoglobulin abnormality 0 0 1 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 0 0 1 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 0 0 1 0 0 1
Haim-Munk syndrome; Periodontitis, aggressive; Papillon-Lefèvre syndrome 0 0 1 0 0 1
Hemophagocytic lymphohistiocytosis, familial, 6 0 0 1 0 0 1
Hepatic veno-occlusive disease-immunodeficiency syndrome 0 0 1 0 0 1
Hepatitis B virus, susceptibility to; Immunodeficiency 45 0 0 1 0 0 1
Hermansky-Pudlak syndrome 9 0 0 1 0 0 1
Herpes simplex encephalitis, susceptibility to, 3 0 0 1 0 0 1
Holt-Oram syndrome 0 0 1 0 0 1
Hyper-IgM syndrome type 2 0 0 1 0 0 1
Hyper-IgM syndrome type 3 0 0 1 0 0 1
Hypercholesterolemia, familial, 1 0 1 0 0 0 1
Hyperekplexia 1 0 0 1 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type; Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12; Intellectual disability and myopathy syndrome 0 0 1 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 0 1
Hypertrophic cardiomyopathy 1 0 0 1 0 0 1
Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 0 0 1 0 0 1
Hypertrophic cardiomyopathy 16 0 0 1 0 0 1
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 0 0 1 0 0 1
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome 0 1 0 0 0 1
Idiopathic CD4 lymphocytopenia 0 0 1 0 0 1
Immunodeficiency 104; Hepatitis C virus, susceptibility to 0 0 1 0 0 1
Immunodeficiency 14 1 0 0 0 0 1
Immunodeficiency 19 0 0 1 0 0 1
Immunodeficiency 28 0 0 1 0 0 1
Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 0 0 1 0 0 1
Immunodeficiency 33; Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome 0 0 1 0 0 1
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome 0 0 1 0 0 1
Immunodeficiency due to ficolin3 deficiency 0 0 1 0 0 1
Immunodeficiency, common variable, 1 0 0 1 0 0 1
Immunodeficiency, common variable, 12 0 0 1 0 0 1
Immunodeficiency, common variable, 4 0 0 0 1 0 1
Immunodeficiency, common variable, 5 0 0 1 0 0 1
Immunodeficiency, common variable, 7 0 0 1 0 0 1
Immunoskeletal dysplasia with neurodevelopmental abnormalities 0 0 1 0 0 1
Infantile nephronophthisis 0 0 1 0 0 1
Inflammatory bowel disease 25 0 0 1 0 0 1
Intellectual disability, X-linked 102 0 0 1 0 0 1
Intellectual disability, X-linked 49 0 0 1 0 0 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 1 0 0 1
Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5 0 0 1 0 0 1
Kabuki syndrome 2 0 0 1 0 0 1
Kleefstra syndrome 1 0 0 1 0 0 1
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 0 1 0 0 1
LEOPARD syndrome 2; Noonan syndrome 5 1 0 0 0 0 1
Landau-Kleffner syndrome 0 0 0 1 0 1
Large congenital melanocytic nevus; Linear nevus sebaceous syndrome; Malignant tumor of urinary bladder; Costello syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2 1 0 0 0 0 1
Lazy leukocyte syndrome 0 0 1 0 0 1
Leukocyte adhesion deficiency type II 0 0 1 0 0 1
Leukoencephalopathy with vanishing white matter 1 1 0 0 0 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 0 0 1
Loeys-Dietz syndrome 2 1 0 0 0 0 1
Loeys-Dietz syndrome 4 0 0 1 0 0 1
Long QT syndrome 10 0 0 1 0 0 1
Long QT syndrome 15 0 0 1 0 0 1
Lymphatic malformation 7 0 0 1 0 0 1
Lymphoproliferative syndrome 1 0 0 1 0 0 1
Lynch syndrome 1; Mismatch repair cancer syndrome 1; Muir-Torré syndrome 0 0 1 0 0 1
Lynch syndrome 4; Mismatch repair cancer syndrome 4 0 0 0 0 1 1
Lysinuric protein intolerance 0 0 1 0 0 1
Lysosomal acid lipase deficiency 1 0 0 0 0 1
Malignant tumor of esophagus; Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28 0 0 1 0 0 1
Maple syrup urine disease 1 0 0 0 0 1
Melorheostosis; Cardiofaciocutaneous syndrome 3 1 0 0 0 0 1
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 0 0 1 0 0 1
Microcephaly, epilepsy, and diabetes syndrome 1 0 0 1 0 0 1
Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4 0 0 1 0 0 1
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 0 1 0 0 1
Mitochondrial disease 0 0 0 1 0 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 0 0 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 0 1 0 0 1
Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas 1 0 0 0 0 1
Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas; Juvenile polyposis syndrome 1 0 0 0 0 1
Myoclonic epilepsy, juvenile, susceptibility to, 1; Epilepsy, juvenile absence, susceptibility to, 1 0 0 1 0 0 1
Nephrogenic syndrome of inappropriate antidiuresis 1 0 0 0 0 1
Neural tube defects, folate-sensitive; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 0 0 1 0 0 1
Neurodegeneration with brain iron accumulation 5 0 0 1 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 0 0 0 0 1
Neuromuscular disease and ocular or auditory anomalies with or without seizures 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 10 0 0 1 0 0 1
Neutrophil immunodeficiency syndrome; Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia; Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 1 0 0 0 0 1
Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome 0 0 1 0 0 1
Noonan syndrome 3; Cardiofaciocutaneous syndrome 2 1 0 0 0 0 1
Noonan syndrome 3; Linear nevus sebaceous syndrome; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2 0 0 1 0 0 1
Noonan syndrome 4 1 0 0 0 0 1
Noonan syndrome 6 1 0 0 0 0 1
Noonan syndrome 8 1 0 0 0 0 1
Okt4 epitope deficiency 0 0 1 0 0 1
Okt4 epitope deficiency; Immunodeficiency 79 0 0 1 0 0 1
Ornithine carbamoyltransferase deficiency 0 1 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteoporosis 0 1 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 0 0 0 0 1 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Ehlers-Danlos syndrome, classic type, 1 0 0 1 0 0 1
Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2; Neurodevelopmental disorder with epilepsy and hemochromatosis 0 0 1 0 0 1
Pierpont syndrome; Intellectual disability, autosomal dominant 41 0 0 1 0 0 1
Poikiloderma with neutropenia 0 0 1 0 0 1
Polycystic kidney disease 2 1 0 0 0 0 1
Polyhydramnios, megalencephaly, and symptomatic epilepsy 0 0 1 0 0 1
Primary immunodeficiency syndrome due to p14 deficiency 0 0 1 0 0 1
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 0 0 1 0 0 1
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection; Pseudo-TORCH syndrome 3 0 0 1 0 0 1
Progressive myoclonic epilepsy type 6 0 0 1 0 0 1
Progressive myoclonic epilepsy type 7 0 0 1 0 0 1
Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to; Microcephaly 27, primary, autosomal dominant 0 0 0 1 0 1
Properdin deficiency, X-linked 0 0 1 0 0 1
Propionic acidemia 1 0 0 0 0 1
Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17 0 0 1 0 0 1
Proximal myopathy with extrapyramidal signs 0 0 1 0 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 0 0 0 1 1
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 0 0 1 0 0 1
Purine-nucleoside phosphorylase deficiency 0 0 1 0 0 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 0 0 1 0 0 1
Recurrent Neisseria infections due to factor D deficiency 0 0 1 0 0 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 0 0 1 0 0 1
Rhabdoid tumor predisposition syndrome 2 0 1 0 0 0 1
Rhabdomyolysis, susceptibility to, 1 0 0 1 0 0 1
Rienhoff syndrome 0 1 0 0 0 1
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65 0 0 1 0 0 1
STING-associated vasculopathy with onset in infancy 1 0 0 0 0 1
Seizures, benign familial neonatal, 2 0 0 1 0 0 1
Severe combined immunodeficiency due to IKK2 deficiency; Immunodeficiency 15a 0 0 1 0 0 1
Sneddon syndrome; Deficiency of adenosine deaminase 2 0 0 0 1 0 1
Spinocerebellar ataxia type 28; Spastic ataxia 5; Optic atrophy 12 0 0 1 0 0 1
Spondyloenchondrodysplasia with immune dysregulation 0 0 0 1 0 1
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2 0 0 1 0 0 1
Sterile multifocal osteomyelitis with periostitis and pustulosis 0 0 1 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 0 0 1 0 0 1
Susceptibility to HIV infection; Immunodeficiency 83, susceptibility to viral infections 0 0 1 0 0 1
Susceptibility to HIV infection; Rheumatoid arthritis; Graft-versus-host disease, susceptibility to 0 0 1 0 0 1
Syndromic X-linked intellectual disability Hedera type; X-linked parkinsonism-spasticity syndrome 0 0 1 0 0 1
Syndromic X-linked intellectual disability Hedera type; X-linked parkinsonism-spasticity syndrome; Congenital disorder of glycosylation, type IIr 0 0 1 0 0 1
TFRC-related combined immunodeficiency 0 0 1 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 0 0 1 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS); Multiple sclerosis, susceptibility to, 5 0 0 1 0 0 1
Tay-Sachs disease 1 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 2 0 0 1 0 0 1
Temtamy syndrome 0 0 1 0 0 1
Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant 0 0 1 0 0 1
Tuberous sclerosis 2 0 1 0 0 0 1
Type 1 diabetes mellitus 10; Immunodeficiency due to CD25 deficiency 0 0 1 0 0 1
Type 1 diabetes mellitus 22; Hepatitis C virus, susceptibility to; Susceptibility to HIV infection; West Nile virus, susceptibility to 0 0 1 0 0 1
Type 1 diabetes mellitus 22; West Nile virus, susceptibility to 0 0 1 0 0 1
Type I complement component 8 deficiency 0 0 1 0 0 1
Warts, hypogammaglobulinemia, infections, and myelokathexis 1 0 0 0 0 1
X-linked Emery-Dreifuss muscular dystrophy 0 0 1 0 0 1
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; Granulomatous disease, chronic, X-linked 0 0 1 0 0 1
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 0 0 1 0 0 1
X-linked spondyloepimetaphyseal dysplasia; Meester-Loeys syndrome 0 0 1 0 0 1
Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome 0 0 1 0 0 1

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