ClinVar Miner

Variants from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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
795 579 28 0 0 1400

Gene and significance breakdown #

Total genes and gene combinations: 720
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SCN2A 7 7 4 18
KCNQ2 9 8 0 17
RYR1 11 6 0 17
BRCA2 14 1 0 15
CHD7 12 2 0 14
LDLR 9 4 0 13
PTPN11 13 0 0 13
TTN 3 10 0 13
SCN5A 5 7 0 12
GLDC 7 4 0 11
MYBPC3 8 2 0 10
ABCC8 6 2 1 9
FOXF1 7 2 0 9
KCNQ1 5 4 0 9
KMT2D 8 1 0 9
LZTR1 3 6 0 9
OTC 6 2 1 9
MECP2 7 1 0 8
MYH7 3 5 0 8
NIPBL 7 1 0 8
BRCA1 7 0 0 7
G6PD 6 1 0 7
IGHMBP2 3 4 0 7
MTM1 7 0 0 7
PKHD1 6 1 0 7
ACTA1 1 5 0 6
ATM 4 2 0 6
ATP1A3 6 0 0 6
BRIP1 5 1 0 6
COL2A1 3 3 0 6
ENPP1 6 0 0 6
GJB2 6 0 0 6
MMUT 4 2 0 6
NPC1 4 2 0 6
SDHA 3 3 0 6
ANKRD11 4 1 0 5
CCDST, FLG 3 2 0 5
CFTR 4 1 0 5
CSNK2B 2 3 0 5
DSP 3 2 0 5
GBA1, LOC106627981 4 1 0 5
HEXA 4 1 0 5
KAT6B 4 1 0 5
LOC102724058, SCN1A 3 0 2 5
NALCN 4 1 0 5
NEB 3 2 0 5
NEB, RIF1 3 2 0 5
PDHA1 5 0 0 5
RET 4 1 0 5
RIT1 5 0 0 5
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 2 3 0 5
ALPL 2 2 0 4
APOB 3 1 0 4
BRAT1 3 1 0 4
CFI 1 3 0 4
CHD2 2 2 0 4
COL4A1 0 4 0 4
COL7A1 3 1 0 4
COMP 0 4 0 4
CREBBP 2 2 0 4
FLNA 0 3 1 4
FLNC 1 3 0 4
HBB, LOC106099062, LOC107133510 4 0 0 4
KCNH2 3 1 0 4
KMT2A 3 1 0 4
MSH6 4 0 0 4
NF1 1 3 0 4
NODAL 1 3 0 4
PALB2 2 2 0 4
POLG 4 0 0 4
RAPSN 1 3 0 4
SGSH 3 1 0 4
TET3 0 1 3 4
TMEM67 3 1 0 4
USP9X 2 2 0 4
ABCC9 3 0 0 3
AMT 0 3 0 3
ARID1B 2 1 0 3
ATM, C11orf65 3 0 0 3
ATRIP, ATRIP-TREX1, TREX1 3 0 0 3
BRWD3 1 2 0 3
CACNA1A 1 2 0 3
CEP290 2 1 0 3
CHEK2 3 0 0 3
CTCF 3 0 0 3
DNM1L 0 3 0 3
DUOX2 1 2 0 3
EARS2 0 3 0 3
EPHB4 1 2 0 3
FGFR2 3 0 0 3
FOXP3 3 0 0 3
GBE1 3 0 0 3
GH-LCR, SCN4A 2 1 0 3
GNAS 2 1 0 3
GNPTAB 1 2 0 3
HSD17B4 0 3 0 3
IL2RG 2 0 1 3
KCNB1 1 2 0 3
KDM6A 3 0 0 3
KMT2B 0 3 0 3
LOC110011216, PHOX2B 3 0 0 3
MYRF 1 2 0 3
NDUFV1 0 3 0 3
NKX2-1, SFTA3 2 1 0 3
NPHP3, NPHP3-ACAD11 0 3 0 3
NRAS 1 2 0 3
PEX12 3 0 0 3
PKLR 2 1 0 3
PKP2 3 0 0 3
PLPBP 2 1 0 3
POGZ 2 1 0 3
PPA2 1 2 0 3
PRF1 3 0 0 3
PTEN 2 1 0 3
RAD51C 3 0 0 3
RYR2 1 2 0 3
SCN1A 0 2 1 3
SDHB 3 0 0 3
SI 0 3 0 3
TBCD 1 2 0 3
TH 2 1 0 3
VWF 1 2 0 3
WFS1 1 2 0 3
WT1 1 2 0 3
AAAS 2 0 0 2
ABCA3 0 2 0 2
ACADSB 2 0 0 2
ACE 2 0 0 2
ACTB 0 2 0 2
ACTG2 1 1 0 2
AFG2B 2 0 0 2
AHCY 0 2 0 2
AIRE 1 1 0 2
ALDH7A1 2 0 0 2
ALDOB 2 0 0 2
ALMS1 0 2 0 2
ANTXR2 2 0 0 2
APC 1 1 0 2
ARID1A 2 0 0 2
ARSA 1 1 0 2
ASCC1 2 0 0 2
ASS1 2 0 0 2
ATP1A2 2 0 0 2
ATP2B2 0 2 0 2
ATRX 1 1 0 2
BBS10 2 0 0 2
BBS2 1 1 0 2
BCHE 1 1 0 2
BCKDHB 1 1 0 2
BCOR 0 2 0 2
BTD 2 0 0 2
BTK 2 0 0 2
CACNA1C 1 1 0 2
CARD11 0 2 0 2
CASK 1 1 0 2
CC2D2A 0 2 0 2
CD36 0 2 0 2
CD46 1 1 0 2
CDAN1 0 2 0 2
CEP41 1 1 0 2
CFTR, LOC111674475 2 0 0 2
CHD4 0 2 0 2
CHRNG 2 0 0 2
CLASP1, RNU4ATAC 0 2 0 2
CLCN1 2 0 0 2
CNTNAP1 2 0 0 2
COL4A4 0 2 0 2
CPLANE1 1 1 0 2
CPT2 1 1 0 2
CTNNB1 1 0 1 2
CUL7 1 1 0 2
CWF19L1 0 1 1 2
DDX3X 1 1 0 2
DST 0 2 0 2
EBF3 1 1 0 2
EFTUD2 2 0 0 2
EIF2B2 1 1 0 2
EPG5 2 0 0 2
ERCC6 0 2 0 2
FBN1 1 1 0 2
FBXW7 1 1 0 2
FGFR3 2 0 0 2
FH 2 0 0 2
FOXC2 1 1 0 2
G6PC3, LOC130060959 2 0 0 2
GAA 2 0 0 2
GALC 0 2 0 2
GALE 0 1 1 2
GATA1 1 1 0 2
GGCX 1 1 0 2
GLB1 2 0 0 2
HLCS 2 0 0 2
IFT80, TRIM59-IFT80 0 2 0 2
IL7R 2 0 0 2
INVS 1 1 0 2
ITPR1 1 1 0 2
JAG1 2 0 0 2
KCNC1 0 2 0 2
KCNJ11 1 1 0 2
KCNQ3 2 0 0 2
KCNT1 2 0 0 2
KIAA0586 2 0 0 2
KLHL7 0 2 0 2
KYNU 0 2 0 2
LARS1 0 2 0 2
LMNA 2 0 0 2
LOC108021846, SOX9 1 1 0 2
LOC126807619, NSD1 1 1 0 2
LOC126861898, MYH7 1 1 0 2
LOC129995144, THG1L 1 1 0 2
LRBA 1 1 0 2
LRP1 0 0 2 2
MADD 1 1 0 2
MC4R 1 1 0 2
MIPEP 0 2 0 2
MITF 1 1 0 2
MOCS1 0 2 0 2
MPV17 1 1 0 2
MSH2 0 2 0 2
MT-ATP6 2 0 0 2
MYH2, MYHAS 1 1 0 2
MYO5B 0 2 0 2
NAXE 1 1 0 2
NOTCH1 0 2 0 2
NPRL2 0 2 0 2
NR2F2 0 2 0 2
NSD2 2 0 0 2
NUBPL 0 2 0 2
PCDH19 2 0 0 2
PEPD 1 1 0 2
PEX1 1 1 0 2
PEX6 0 2 0 2
PKD1 1 1 0 2
PLA2G6 2 0 0 2
PLCB4 1 1 0 2
PMM2 1 1 0 2
PMS2 1 1 0 2
PORCN 0 2 0 2
PPP1R12A 0 2 0 2
PPP2R1A 1 1 0 2
PSAT1 0 2 0 2
PTCH1 1 1 0 2
PURA 2 0 0 2
PYGM 2 0 0 2
RAF1 1 1 0 2
RAG2 1 1 0 2
RALGAPA1 0 2 0 2
RARS2 2 0 0 2
SBDS 2 0 0 2
SCN8A 2 0 0 2
SERAC1 1 1 0 2
SETBP1 2 0 0 2
SLC12A3 2 0 0 2
SLC19A3 2 0 0 2
SLC26A2 2 0 0 2
SLC27A4 1 1 0 2
SLC35A2 2 0 0 2
SMAD6 0 2 0 2
SMARCA2 2 0 0 2
SMARCB1 1 1 0 2
SOX9 1 1 0 2
SPG7 2 0 0 2
SPTA1 1 1 0 2
STAT3 0 2 0 2
STRA6 2 0 0 2
SYNGAP1 2 0 0 2
TAFAZZIN 2 0 0 2
TANGO2 2 0 0 2
TBC1D24 2 0 0 2
TMEM237 2 0 0 2
TNNI3 0 2 0 2
TRAF7 1 1 0 2
TSC2 1 1 0 2
TUBA1A 1 1 0 2
TUBB2A 0 2 0 2
TUBB3 2 0 0 2
UBE3B 0 2 0 2
VWA1 1 1 0 2
WARS2 2 0 0 2
WDR19 2 0 0 2
WDR62 1 1 0 2
ZEB2 2 0 0 2
ZFHX3 1 1 0 2
AARS1 0 1 0 1
ABCB4 0 1 0 1
ABCC2 1 0 0 1
ABCC2, LOC126861013 1 0 0 1
ABCC6 1 0 0 1
ABCC9, KCNJ8 1 0 0 1
ABCD1, PLXNB3 0 1 0 1
ABCG8 1 0 0 1
ABHD13, ADPRHL1, ANKRD10, ANKRD10-IT1, ARGLU1, ARHGEF7, ATP11A, ATP11AUN, ATP4B, BIVM, BIVM-ERCC5, CARS2, CDC16, CHAMP1, COL4A1, COL4A2, CUL4A, DAOA, DCUN1D2, EFNB2, ERCC5, F10, F7, FGF14, GAS6, GRTP1, ING1, IRS2, ITGBL1, LAMP1, LIG4, LINC00567, LRTM3, MCF2L, METTL21C, MYO16, NALF1, NAXD, PCID2, POGLUT2, PROZ, RAB20, RASA3, SLC10A2, SLC9D1, SOX1, SPACA7, SWINGN, TEX29, TEX30, TFDP1, TMEM255B, TNFSF13B, TPP2, TUBGCP3, UPF3A 1 0 0 1
ABHD4, DAD1, OR10G2, OR10G3, OR4E2, OXA1L, TRA 0 0 1 1
ACADM 1 0 0 1
ACADVL 1 0 0 1
ACAN 1 0 0 1
ACAT1 0 1 0 1
ACOX1 1 0 0 1
ACTA2 1 0 0 1
ACTC1, GJD2-DT 0 1 0 1
ACTN2 1 0 0 1
ACVRL1 1 0 0 1
ADAMTSL2 0 1 0 1
ADIRF, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, LDB3, LINC01520, LOC101929662, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NUTM2A, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TSPAN14, WAPL 1 0 0 1
ADK 0 1 0 1
ADK, LOC102723439 0 1 0 1
ADNP 1 0 0 1
ADPRS 0 1 0 1
ADSL 1 0 0 1
AGRN 0 1 0 1
AK7, ASB2, ATG2B, ATXN3, BDKRB1, BDKRB2, BTBD7, C14orf132, CALM1, CATSPERB, CCDC88C, CHGA, CLMN, COX8C, CPSF2, DDX24, DGLUCY, DICER1, EFCAB11, EML5, FAM181A, FBLN5, FLRT2, FOXN3, GALC, GLRX5, GOLGA5, GON7, GPR65, GPR68, GSC, GSKIP, IFI27, IFI27L1, IFI27L2, ITPK1, KCNK10, KCNK13, LGMN, LYSET, MOAP1, NDUFB1, NRDE2, OTUB2, PPP4R3A, PPP4R4, PRIMA1, PSMC1, PTPN21, RIN3, RPS6KA5, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SLC24A4, SNHG10, SPATA7, SYNE3, TC2N, TCL1A, TCL1B, TCL6, TDP1, TRIP11, TTC7B, TTC8, UBR7, UNC79, ZC3H14 1 0 0 1
ALDH18A1 0 1 0 1
ALG1 1 0 0 1
ALG12 1 0 0 1
ALPK3 1 0 0 1
AMT, NICN1 0 1 0 1
ANO5 1 0 0 1
AP1S1, LOC126860125 0 1 0 1
AP4S1 1 0 0 1
AQP2 1 0 0 1
AQP2, AQP5 0 1 0 1
ARFGEF1 0 0 1 1
ARHGEF6 0 0 1 1
ARID2 1 0 0 1
ARSB 0 1 0 1
ARSB, LOC129994126 0 1 0 1
ARX 1 0 0 1
ASH1L 0 0 1 1
ASL 0 1 0 1
ASNS, CZ1P-ASNS 0 1 0 1
ASPA, SPATA22 1 0 0 1
ASPM 1 0 0 1
ASXL1 1 0 0 1
ASXL3 1 0 0 1
ATAD3A 1 0 0 1
ATN1 1 0 0 1
ATP7A 0 1 0 1
ATP7B 1 0 0 1
ATP8B1 0 1 0 1
AUTS2 1 0 0 1
AVP 0 1 0 1
AVPR2 0 1 0 1
AXIN2 0 1 0 1
B3GALT6 0 1 0 1
B9D1 0 1 0 1
BBS1, ZDHHC24 1 0 0 1
BCKDHA 1 0 0 1
BICRA 0 1 0 1
BLM 1 0 0 1
BMPR1A 1 0 0 1
BMPR2 0 1 0 1
BPTF 1 0 0 1
BRCA1, LOC126862571 1 0 0 1
BRD4 0 0 1 1
C17orf107, CHRNE 1 0 0 1
C1GALT1C1 1 0 0 1
C2CD3 0 1 0 1
CACNA1S 1 0 0 1
CASD1, SGCE 1 0 0 1
CASR 1 0 0 1
CCNH, RASA1 0 1 0 1
CDC42 0 1 0 1
CEP55 1 0 0 1
CERS1, GDF1, UPF1 0 1 0 1
CFB 1 0 0 1
CFTR, LOC111674477 0 1 0 1
CHAT 0 1 0 1
CHD3 0 1 0 1
CHD7, LOC126860403 1 0 0 1
CHD8 0 1 0 1
CIC 0 1 0 1
CLPB 0 1 0 1
CLPP 0 1 0 1
COASY 0 1 0 1
COL11A1 1 0 0 1
COL12A1 1 0 0 1
COL18A1 1 0 0 1
COL5A1 0 1 0 1
COL6A2 1 0 0 1
COLQ 1 0 0 1
COQ2 0 1 0 1
COQ7, COQ7-DT, LOC130058587 0 1 0 1
CPOX 0 1 0 1
CRB2 0 1 0 1
CSNK2A1 1 0 0 1
CTNS 1 0 0 1
CUL4B 0 1 0 1
CYP11A1 0 1 0 1
CYP11B2, LOC106799834 0 1 0 1
CYP21A2, LOC106780800 1 0 0 1
DCLRE1C 0 1 0 1
DEPDC5 1 0 0 1
DES 0 1 0 1
DIAPH2, FAM133A, NAP1L3, PABPC5, PCDH11X, PCDH19, RPA4, TGIF2LX 1 0 0 1
DICER1 0 0 1 1
DIPK1A, RPL5 1 0 0 1
DLD 1 0 0 1
DLG4 1 0 0 1
DMD 1 0 0 1
DNAH9 0 1 0 1
DNASE1L3 1 0 0 1
DNM1 0 1 0 1
DNM2 1 0 0 1
DNMT3A 0 1 0 1
DOCK8 1 0 0 1
DPM1 1 0 0 1
DPM1, LOC130066166 0 1 0 1
DSC2 0 1 0 1
DYRK1A 1 0 0 1
ECHS1 0 1 0 1
ECHS1, LOC130005023 0 1 0 1
EDA 0 1 0 1
EEF1A2 0 1 0 1
EFEMP1 1 0 0 1
ELP4, PAX6 1 0 0 1
EMC10 1 0 0 1
EP300 1 0 0 1
EPHB4, LOC126860124 1 0 0 1
ERCC2 1 0 0 1
ERCC6, LOC126860933 0 1 0 1
ERCC6, LOC130003806 0 1 0 1
EVC2 1 0 0 1
F11 0 1 0 1
F13A1 0 1 0 1
F2 1 0 0 1
F8 1 0 0 1
FANCA 1 0 0 1
FANCA, ZNF276 1 0 0 1
FAS 1 0 0 1
FBN1, LOC113939944 0 1 0 1
FBN2 1 0 0 1
FBXO11 0 1 0 1
FDXR 1 0 0 1
FERMT3 1 0 0 1
FGA 0 1 0 1
FLCN 1 0 0 1
FLT4 0 1 0 1
FLT4, LOC126807632 0 1 0 1
FOXC1 1 0 0 1
FOXG1 0 1 0 1
FOXN1 0 1 0 1
FOXP1, LOC126806714 1 0 0 1
GABBR2 1 0 0 1
GABRA1 0 1 0 1
GALC, LOC130056217 1 0 0 1
GALNS 0 1 0 1
GATAD1, PEX1 1 0 0 1
GDF2 0 1 0 1
GFAP 1 0 0 1
GIGYF1 0 1 0 1
GJB1 0 1 0 1
GJB6 1 0 0 1
GK 0 1 0 1
GLA, RPL36A-HNRNPH2 0 1 0 1
GLI3 1 0 0 1
GMPPB 1 0 0 1
GNAO1 0 1 0 1
GPSM2 0 1 0 1
GREB1L 0 1 0 1
GRHL2 0 1 0 1
GRIA2 0 1 0 1
GRIN2A 1 0 0 1
GRIN2B 0 1 0 1
H3-3A 1 0 0 1
HACE1 1 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 1
HBB, LOC107133510, LOC110006319 1 0 0 1
HCFC1 0 1 0 1
HCN1 0 1 0 1
HDAC6 0 1 0 1
HDAC8 1 0 0 1
HIVEP2 0 1 0 1
HMGCL 1 0 0 1
HNF1A 1 0 0 1
HNF1B 1 0 0 1
HNRNPD, LOC129992757 1 0 0 1
HOXB13 1 0 0 1
HPDL 0 1 0 1
HRAS, LRRC56 1 0 0 1
HSD3B7 0 1 0 1
HUWE1 0 1 0 1
HYLS1, PUS3 0 1 0 1
IDH1 1 0 0 1
IDH2 0 1 0 1
IDUA 1 0 0 1
IGSF1 1 0 0 1
IKZF1 1 0 0 1
IL2RG, LOC126863274 1 0 0 1
INS, INS-IGF2 0 1 0 1
IRAK1 0 0 1 1
IRF2BPL 0 1 0 1
IRF2BPL, LOC107984638 0 1 0 1
KARS1 1 0 0 1
KAT6A 1 0 0 1
KCNA1 1 0 0 1
KCNA2 0 1 0 1
KCNH1 0 1 0 1
KCTD1 0 1 0 1
KDM6B 0 1 0 1
KIF5A 0 1 0 1
KIFBP 1 0 0 1
KIRREL2, NPHS1 1 0 0 1
KIT 1 0 0 1
KMT2D, LOC126861520 1 0 0 1
KMT2E 1 0 0 1
KMT5B 0 1 0 1
KRAS 1 0 0 1
LAMA2 1 0 0 1
LAMA3 1 0 0 1
LCT 0 1 0 1
LMNA, LOC129931597 1 0 0 1
LOC100131626, UBE4A 0 1 0 1
LOC107982234, WT1 0 1 0 1
LOC126806373, NEB 0 1 0 1
LOC126806421, TTN 0 1 0 1
LOC126806423, TTN 0 1 0 1
LOC126806425, TTN 1 0 0 1
LOC126859827, TAB2 0 1 0 1
LOC126861831, NALCN 1 0 0 1
LOC126862264, MEFV 1 0 0 1
LOC126862482, POLR2A 0 1 0 1
LOC126862902, RYR1 1 0 0 1
LOC129935182, TTN 0 1 0 1
LOC129994826, PURA 1 0 0 1
LOC129998021, TWIST1 0 1 0 1
LOC130005368, RRAS2 1 0 0 1
LOC130006026, SCYL1 0 1 0 1
LOC130009585, UFM1 0 1 0 1
LOC130059554, MLYCD 0 1 0 1
LONP2, SIAH1 0 1 0 1
LPL 1 0 0 1
MAGEL2 1 0 0 1
MAP1B 0 1 0 1
MAX 0 1 0 1
MBTPS2 0 1 0 1
MC2R 1 0 0 1
MDFIC 1 0 0 1
MEA1, PPP2R5D 1 0 0 1
MED12L 0 1 0 1
MED13 0 1 0 1
MEF2C 1 0 0 1
MEFV 0 1 0 1
MIF4GD-DT, SLC25A19 1 0 0 1
MNX1 0 1 0 1
MOCS2 0 1 0 1
MSL3 0 1 0 1
MT-ND1, MT-RNR1 1 0 0 1
MTO1 0 1 0 1
MTR 1 0 0 1
MUTYH 1 0 0 1
MVP-DT, PRRT2 1 0 0 1
MYH6 1 0 0 1
MYLK 0 1 0 1
MYO6 0 1 0 1
MYO7A 0 1 0 1
MYT1L 1 0 0 1
NAA10 1 0 0 1
NAA15 1 0 0 1
NAXD 0 1 0 1
NDP 1 0 0 1
NDUFA1 0 0 1 1
NDUFB11 0 1 0 1
NDUFS3 0 1 0 1
NDUFS4 1 0 0 1
NEXMIF 0 1 0 1
NFIA 0 1 0 1
NFIX 1 0 0 1
NFU1 1 0 0 1
NLRP3 0 1 0 1
NONO 1 0 0 1
NPHP3-ACAD11, UBA5 1 0 0 1
NPHS1 1 0 0 1
NR0B1 1 0 0 1
NR2F1 1 0 0 1
NR4A2 0 1 0 1
NSD1 1 0 0 1
OFD1 0 1 0 1
OPA1 1 0 0 1
OTX2 0 1 0 1
PACS1 1 0 0 1
PACS2 1 0 0 1
PAFAH1B1 1 0 0 1
PAX2 1 0 0 1
PCCA 0 1 0 1
PCCB 1 0 0 1
PDE4D 0 1 0 1
PEX13 1 0 0 1
PGM1 1 0 0 1
PHGDH 1 0 0 1
PHOX2B 0 1 0 1
PIEZO1 1 0 0 1
PIGV 0 1 0 1
PIK3C2A 0 1 0 1
PIK3CA 0 1 0 1
PIK3R1 1 0 0 1
PIK3R2 1 0 0 1
PKD2 1 0 0 1
PNKP 1 0 0 1
PNPLA8 0 1 0 1
PNPT1 0 1 0 1
POLE 0 1 0 1
POLR1C 0 1 0 1
POLR1D 0 1 0 1
PPP1CB 1 0 0 1
PPP2R5D 1 0 0 1
PPP3CA 0 1 0 1
PRDM16 1 0 0 1
PRKAR1A 0 1 0 1
PRKN 1 0 0 1
PROKR2 0 1 0 1
PUF60 0 1 0 1
PUM1 0 1 0 1
PYCR1 0 1 0 1
QARS1 0 1 0 1
QRICH1 0 1 0 1
RAB27A 0 1 0 1
RAC3 0 1 0 1
RAD21 0 1 0 1
RAD51 1 0 0 1
RBM10 0 1 0 1
RELA 0 1 0 1
RHOBTB2 0 1 0 1
RNF13 0 1 0 1
RORB 0 0 1 1
SAMHD1 0 1 0 1
SCARB1 1 0 0 1
SCN1A, SCN9A 0 1 0 1
SCN1B 1 0 0 1
SCN4A 1 0 0 1
SCNN1A 1 0 0 1
SCYL1 1 0 0 1
SERPINA1 1 0 0 1
SERPING1 1 0 0 1
SETD1B 0 1 0 1
SETD2 0 1 0 1
SETD5 1 0 0 1
SH2D1A 0 1 0 1
SHANK3 1 0 0 1
SHOC2 1 0 0 1
SKI 1 0 0 1
SLC16A2 1 0 0 1
SLC1A4 0 1 0 1
SLC20A2 1 0 0 1
SLC25A15 1 0 0 1
SLC25A19 0 1 0 1
SLC25A3 1 0 0 1
SLC26A3 0 1 0 1
SLC2A1 0 1 0 1
SLC30A9 0 1 0 1
SLC3A1 1 0 0 1
SLC4A1 0 1 0 1
SLC5A1 1 0 0 1
SMAD2 1 0 0 1
SMAD4 1 0 0 1
SMARCA4 0 1 0 1
SMC3 0 1 0 1
SMPD1 1 0 0 1
SNAP25 0 1 0 1
SNHG14, UBE3A 1 0 0 1
SORD 1 0 0 1
SOX17 0 1 0 1
SPEN 0 1 0 1
SPOP 0 1 0 1
SPTB 1 0 0 1
SPTBN1 0 1 0 1
STAC3 1 0 0 1
STAT1 0 1 0 1
STING1 0 1 0 1
STXBP1 1 0 0 1
STXBP2 0 1 0 1
SUOX 1 0 0 1
SZT2 0 1 0 1
TAB2 0 1 0 1
TAOK1 1 0 0 1
TBCK 1 0 0 1
TBL1XR1 0 1 0 1
TBX1 0 1 0 1
TBX4 0 1 0 1
TBX5 1 0 0 1
TBX6 0 1 0 1
TCF12 1 0 0 1
TECRL 0 1 0 1
TGFBR1 0 1 0 1
TGFBR2 0 1 0 1
THAP1 0 1 0 1
THOC6 0 1 0 1
TLK2 0 1 0 1
TMEM127 0 1 0 1
TNFAIP3 0 1 0 1
TNFRSF13B 0 1 0 1
TNNT2 0 1 0 1
TNRC6B 0 1 0 1
TOR1A 1 0 0 1
TP53 1 0 0 1
TPM1 1 0 0 1
TPM2 0 1 0 1
TRAPPC12 0 1 0 1
TREX1 0 1 0 1
TRIP12 1 0 0 1
TRNT1 1 0 0 1
TRPS1 1 0 0 1
TRPV4 1 0 0 1
TSEN54 1 0 0 1
TSHR 0 1 0 1
TTR 1 0 0 1
TUBB2B 0 1 0 1
U2AF2 1 0 0 1
UBA1 1 0 0 1
UBA2 0 1 0 1
UMOD 0 1 0 1
UPF3B 1 0 0 1
VARS1 0 1 0 1
VARS1, VARS2 0 1 0 1
VARS2 0 1 0 1
VCP 0 1 0 1
VKORC1 1 0 0 1
VPS13D 0 1 0 1
WDR26 1 0 0 1
WNT10A 1 0 0 1
ZC4H2 0 1 0 1

Condition and significance breakdown #

Total conditions: 826
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Condition pathogenic likely pathogenic uncertain significance total
SCN2A-related disorder 7 6 4 17
TTN-related disorder 3 11 0 14
CHARGE syndrome 11 2 0 13
KCNQ2-Related Disorders 8 5 0 13
Glycine encephalopathy 5 7 0 12
PTPN11-related disorder 12 0 0 12
RYR1-related disorder 9 3 0 12
Familial hypercholesterolemia 8 3 0 11
Nemaline myopathy 2 6 4 0 10
Alveolar capillary dysplasia with pulmonary venous misalignment 7 2 0 9
BRCA2-related disorder 8 1 0 9
Ornithine carbamoyltransferase deficiency 6 2 1 9
SCN5A-related disorder 3 6 0 9
KCNQ1-related disorder 5 3 0 8
Cornelia de Lange syndrome 1 7 0 0 7
Kabuki syndrome 1 6 1 0 7
ATM-related disorder 5 1 0 6
Autosomal recessive polycystic kidney disease 5 1 0 6
CFTR-related disorder 5 1 0 6
Cardiomyopathy 4 2 0 6
FLG-related disorder 4 2 0 6
MECP2-related disorder 5 1 0 6
MYH7-related disorder 2 4 0 6
Severe X-linked myotubular myopathy 6 0 0 6
ABCC8-related disorder 4 1 0 5
GJB2-related disorder 5 0 0 5
Hereditary breast ovarian cancer syndrome 5 0 0 5
KBG syndrome 4 1 0 5
LZTR1-related disorder 0 5 0 5
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 3 2 0 5
NALCN-related disorder 5 0 0 5
Noonan syndrome 8 5 0 0 5
Pyruvate dehydrogenase E1-alpha deficiency 5 0 0 5
SCN1A-related disorder 1 2 2 5
Tay-Sachs disease 4 1 0 5
UGT1A1-related disorder 2 3 0 5
ABCC9-related disorder 4 0 0 4
ACTA1-related myopathies 0 4 0 4
ATP1A3-related disorder 4 0 0 4
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 3 1 0 4
BRCA1-related disorder 4 0 0 4
BRIP1-associated familial cancer predisposition 3 1 0 4
CFI-related disorder 1 3 0 4
Developmental and epileptic encephalopathy 94 2 2 0 4
ENPP1-related disorder 4 0 0 4
FLNA-related disorder 0 3 1 4
Hypertrophic cardiomyopathy 4 3 1 0 4
KCNH2-related disorder 3 1 0 4
MYBPC3-related cardiomyopathies 3 1 0 4
Mitochondrial complex I deficiency 0 4 0 4
Mucopolysaccharidosis, MPS-III-A 3 1 0 4
Multiple epiphyseal dysplasia type 1 0 4 0 4
POLG-related disorder 4 0 0 4
RAPSN-related disorder 1 3 0 4
SCN4A-related disorder 3 1 0 4
TMEM67-related disorder 3 1 0 4
Wiedemann-Steiner syndrome 3 1 0 4
not provided 1 0 4 4
Alternating hemiplegia of childhood 2 3 0 0 3
Autosomal dominant nonsyndromic hearing loss 6 1 2 0 3
Autosomal recessive distal spinal muscular atrophy 1 0 3 0 3
Bifunctional peroxisomal enzyme deficiency 0 3 0 3
Brugada syndrome 1 2 1 0 3
CEP290-related disorder 2 1 0 3
COL2A1-related skeletal dysplasia 2 1 0 3
COL4A1-related disorder 0 3 0 3
COL7A1-related disorder 2 1 0 3
CREBBP-related disorder 2 1 0 3
CTCF-related neurodevelopmental disorder 3 0 0 3
Combined immunodeficiency, X-linked 2 0 1 3
Congenital central hypoventilation 3 0 0 3
Cystic fibrosis 2 1 0 3
DSP-related disorder 1 2 0 3
Developmental and epileptic encephalopathy, 26 1 2 0 3
Developmental and epileptic encephalopathy, 7 1 2 0 3
EPHB4-related disorder 2 1 0 3
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 1 2 0 3
Epilepsy, early-onset, vitamin B6-dependent 2 1 0 3
FGFR2-related disorder 3 0 0 3
FLNC-related disorder 1 2 0 3
Familial hemophagocytic lymphohistiocytosis 2 3 0 0 3
G6PD deficiency 3 0 0 3
Galactosylceramide beta-galactosidase deficiency 1 2 0 3
Glycine encephalopathy 1 2 1 0 3
Glycogen storage disease, type IV 3 0 0 3
HBB-related disorder 3 0 0 3
Hereditary cancer-predisposing syndrome 3 0 0 3
Hyperinsulinemic hypoglycemia, familial, 1 2 0 1 3
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 3 0 0 3
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2 1 0 3
KMT2D-related disorder 3 0 0 3
Kabuki syndrome 2 3 0 0 3
LMNA-related disorder 3 0 0 3
MSH6-related disorder 3 0 0 3
NKX2-1-Related Disorders 2 1 0 3
NPHP3-related disorder 0 3 0 3
NRAS-related disorder 1 2 0 3
Neurodevelopmental disorder 1 2 0 3
Neurofibromatosis, type 1 0 3 0 3
PALB2-related disorder 1 2 0 3
Poirier-Bienvenu neurodevelopmental syndrome 1 2 0 3
RAD51C-related disorder 3 0 0 3
RET-related disorder 3 0 0 3
SDHA-related disorder 1 2 0 3
SDHB-related disorder 3 0 0 3
Sotos syndrome 2 1 0 3
Sphingomyelin/cholesterol lipidosis 2 1 0 3
Sucrase-isomaltase deficiency 0 3 0 3
TET3-related disorder 0 0 3 3
TREX1-related disorder 3 0 0 3
Thyroid dyshormonogenesis 6 1 2 0 3
USP9X-related disorder 2 1 0 3
WT1-related disorder 1 2 0 3
3-Methylglutaconic aciduria type 2 2 0 0 2
3M syndrome 1 1 1 0 2
ALPL-related disorder 1 1 0 2
APOB-related disorder 2 0 0 2
AQP2-related nephrogenic diabetes insipidus 1 1 0 2
ARID1B-Related Disorder 2 0 0 2
ATP1A2-related disorder 2 0 0 2
ATP2B2-related disorder 0 2 0 2
Actin accumulation myopathy 1 1 0 2
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 1 1 0 2
Adenosine kinase deficiency 0 2 0 2
Alpha thalassemia-X-linked intellectual disability syndrome 1 1 0 2
Alstrom syndrome 0 2 0 2
Amish lethal microcephaly 1 1 0 2
Anemia, congenital dyserythropoietic, type 1a 0 2 0 2
Arrhythmogenic right ventricular dysplasia 8 2 0 0 2
Auriculocondylar syndrome 2 1 1 0 2
Autosomal dominant KAT6B-related disorders 1 1 0 2
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 1 1 0 2
Autosomal dominant nocturnal frontal lobe epilepsy 5 2 0 0 2
Autosomal recessive multiple pterygium syndrome 2 0 0 2
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2 0 0 2
Autosomal recessive spinocerebellar ataxia 17 0 1 1 2
BRAT1-related disorder 1 1 0 2
Bardet-Biedl syndrome 10 2 0 0 2
Bardet-Biedl syndrome 2 1 1 0 2
Biotin-responsive basal ganglia disease 2 0 0 2
Biotinidase deficiency 2 0 0 2
Breast cancer, susceptibility to 1 1 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 2 0 0 2
CACNA1C-related disorder 1 1 0 2
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL 2 0 0 2
CASK-related syndromic intellectual disability 1 1 0 2
CC2D2A-related disorder 0 2 0 2
CHD7-related disorder 2 0 0 2
CHEK2-related cancer predisposition 2 0 0 2
CPT2-related disorder 1 1 0 2
CSNK2B-Related Neurodevelopmental Disorder 1 1 0 2
Camptomelic dysplasia 0 2 0 2
Central core disease, autosomal recessive 2 0 0 2
Citrullinemia 2 0 0 2
Cockayne syndrome type 2 0 2 0 2
Congenital disorder of glycosylation type 1E 1 1 0 2
Congenital heart defects, multiple types, 2 0 2 0 2
Congenital microvillous atrophy 0 2 0 2
Coronary sclerosis, medial, of infancy 2 0 0 2
DNM1L-related disorder 0 2 0 2
DST-related disorder 0 2 0 2
De Lange syndrome 0 1 1 2
Deficiency of 2-methylbutyryl-CoA dehydrogenase 2 0 0 2
Deficiency of butyrylcholinesterase 1 1 0 2
Developmental and epileptic encephalopathy, 9 2 0 0 2
Distichiasis-lymphedema syndrome 1 1 0 2
Dubin-Johnson syndrome 2 0 0 2
Dystonia 28, childhood-onset 0 2 0 2
Dystonic disorder 1 1 0 2
ERCC6-related disorder 0 2 0 2
Early-onset myopathy with fatal cardiomyopathy 0 2 0 2
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 1 0 2
Epilepsy, familial focal, with variable foci 2 0 2 0 2
FBN1-related disorder 0 2 0 2
FH-related disorder 2 0 0 2
Familial hypokalemia-hypomagnesemia 2 0 0 2
Fanconi anemia 2 0 0 2
Finnish congenital nephrotic syndrome 2 0 0 2
GATA1-related disorder 1 1 0 2
GBA1-related disorders 2 0 0 2
GGCX-related disorder 1 1 0 2
GLB1-related disorder 2 0 0 2
GNAS-related disorder 1 1 0 2
GNPTAB-Related Disorders 1 1 0 2
Gaucher disease 2 0 0 2
Genitourinary and/or brain malformation syndrome 0 2 0 2
Glucocorticoid deficiency with achalasia 2 0 0 2
Glycogen storage disease, type II 2 0 0 2
Glycogen storage disease, type V 2 0 0 2
Hb SS disease 2 0 0 2
Hereditary fructosuria 2 0 0 2
Hereditary spastic paraplegia 7 2 0 0 2
Holocarboxylase synthetase deficiency 2 0 0 2
Houge-Janssens syndrome 1 2 0 0 2
Houge-Janssens syndrome 2 1 1 0 2
Hyaline fibromatosis syndrome 2 0 0 2
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 0 2 0 2
Hypobetalipoproteinemia 1 1 0 2
Hypophosphatasia 1 1 0 2
IFT80-related skeletal disorders 0 2 0 2
IGHMBP2-related disorder 2 0 0 2
Ichthyosis prematurity syndrome 1 1 0 2
Immunodeficiency 104 2 0 0 2
Infantile nephronophthisis 1 1 0 2
Infantile neuroaxonal dystrophy 2 0 0 2
Intellectual disability, X-linked 93 1 1 0 2
Intellectual disability, autosomal dominant 14 2 0 0 2
Interstitial lung disease due to ABCA3 deficiency 0 2 0 2
JAG1-related disorder 2 0 0 2
Joubert syndrome 14 2 0 0 2
Joubert syndrome 15 1 1 0 2
Joubert syndrome 17 1 1 0 2
KAT6B-related disorder 2 0 0 2
KCNJ11-related disorder 1 1 0 2
KIAA0586-related disorder 2 0 0 2
KLHL7-related disorder 0 2 0 2
KYNU-related disorder 0 2 0 2
Lethal congenital contracture syndrome 7 2 0 0 2
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 2 0 2
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 0 2 0 2
Lowry-Wood syndrome 0 2 0 2
MADD-related disorder 1 1 0 2
MEFV-related disorder 1 1 0 2
MITF-related disorder 1 1 0 2
MSH2-related disorder 0 2 0 2
MYBPC3-related disorder 2 0 0 2
MYRF-related disorder 1 1 0 2
Malignant hyperthermia, susceptibility to, 1 0 2 0 2
Mandibulofacial dysostosis-microcephaly syndrome 2 0 0 2
Maple syrup urine disease 1 1 0 2
Matthew-Wood syndrome 2 0 0 2
Metachromatic leukodystrophy 1 1 0 2
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 1 0 2
Mitochondrial complex I deficiency, nuclear type 21 0 2 0 2
Mitochondrial complex II deficiency, nuclear type 1 1 1 0 2
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 2 0 2
Mowat-Wilson syndrome 2 0 0 2
Mucopolysaccharidosis type 6 0 2 0 2
Neonatal-onset encephalopathy with rigidity and seizures 2 0 0 2
Neurodevelopmental disorder with hearing loss and spasticity 2 0 0 2
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 0 2 0 2
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 2 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 7 1 1 0 2
Nicolaides-Baraitser syndrome 2 0 0 2
Niemann-Pick disease, type C1, juvenile form 2 0 0 2
Noonan syndrome 2 0 0 2
Obesity 1 1 0 2
Oculocerebrofacial syndrome, Kaufman type 0 2 0 2
PEX1-related disorder 2 0 0 2
PEX12-related disorder 2 0 0 2
PEX6-related disorder 0 2 0 2
PMM2-congenital disorder of glycosylation 1 1 0 2
PSAT1-related disorder 0 2 0 2
PTEN-related disorder 1 1 0 2
PURA Syndrome 2 0 0 2
Platelet-type bleeding disorder 10 0 2 0 2
Polycystic kidney disease, adult type 1 1 0 2
Polyglandular autoimmune syndrome, type 1 1 1 0 2
Pontocerebellar hypoplasia type 6 2 0 0 2
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 0 0 2
Prolidase deficiency 1 1 0 2
Propionic acidemia 1 1 0 2
Pyridoxine-dependent epilepsy 2 0 0 2
Pyruvate kinase deficiency of red cells 2 0 0 2
RYR2-related disorder 1 1 0 2
Recombinase activating gene 2 deficiency 1 1 0 2
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 2 0 0 2
Renal tubular dysgenesis 2 0 0 2
Rett syndrome 2 0 0 2
SCN8A-related disorder 2 0 0 2
SLC26A2-related disorder 2 0 0 2
SLC35A2-congenital disorder of glycosylation 2 0 0 2
SMAD6-related disease 0 2 0 2
SPTA1-related disorder 1 1 0 2
STAT3-related disorder 0 2 0 2
Seizures, benign familial neonatal, 2 2 0 0 2
Severe combined immunodeficiency due to CARD11 deficiency 0 2 0 2
Severe myoclonic epilepsy in infancy 1 0 1 2
Shwachman syndrome 2 0 0 2
Sifrim-Hitz-Weiss syndrome 0 2 0 2
Spinal muscular atrophy 1 1 0 2
Spinal muscular atrophy with congenital bone fractures 2 2 0 0 2
Sudden cardiac failure, infantile 1 1 0 2
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 2 0 2
TBC1D24-related disorder 2 0 0 2
THG1L-related disorder 1 1 0 2
TNNI3-related disorder 0 2 0 2
TUBA1A-associated tubulinopathy 1 1 0 2
UDPglucose-4-epimerase deficiency 0 1 1 2
Vanishing white matter disease 1 1 0 2
Vici syndrome 2 0 0 2
Visceral heterotaxy 0 2 0 2
Visceral myopathy 1 1 1 0 2
WARS2-related disorder 2 0 0 2
WDR19-related disorder 2 0 0 2
WDR62-related disorder 1 1 0 2
X-linked agammaglobulinemia 2 0 0 2
ZFHX3-related disorder 1 1 0 2
beta Thalassemia 2 0 0 2
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 1 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 1
3-methylglutaconic aciduria, type VIIB 0 1 0 1
8q24.3 microdeletion syndrome 0 1 0 1
AARS-related disorder 0 1 0 1
ABCB4-related disorder 0 1 0 1
ABCC6-related disorder 1 0 0 1
ABCC8-related channelopathies 1 0 0 1
ACAN-related disorder 1 0 0 1
ACOX1-related disorder 1 0 0 1
ACTB-related disorder 0 1 0 1
ACTN2-related disorder 1 0 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 0 0 1
ALDH18A1-related de Barsy syndrome 0 1 0 1
ALG1-congenital disorder of glycosylation 1 0 0 1
ALG12-congenital disorder of glycosylation 1 0 0 1
ALPK3-related disorder 1 0 0 1
ANO5 Muscle Disease 1 0 0 1
APC-related polyposis 0 1 0 1
ARFGEF1-related disorder 0 0 1 1
ARX-related disorder 1 0 0 1
ASXL1-related disorder 1 0 0 1
ATAD3A-related mitochondrial disorders 1 0 0 1
ATN1-related disorder 1 0 0 1
ATP8B1-related disorder 0 1 0 1
ATTRV122I amyloidosis 1 0 0 1
AUTS2-related neurodevelopmental disorder 1 0 0 1
AVPR2-related disorder 0 1 0 1
AXIN2-related disorder 0 1 0 1
Acid sphingomyelinase deficiency 1 0 0 1
Acrodysostosis 2 with or without hormone resistance 0 1 0 1
Adenylosuccinate lyase deficiency 1 0 0 1
Adrenoleukodystrophy 0 1 0 1
Aganglionic megacolon 0 1 0 1
Aicardi-Goutieres syndrome 1 0 1 0 1
Aldosterone Synthase Deficiency 0 1 0 1
Alexander disease 1 0 0 1
Allan-Herndon-Dudley syndrome 1 0 0 1
Alpha-1-antitrypsin deficiency 1 0 0 1
Alport syndrome 0 1 0 1
Amyloidosis, hereditary systemic 1 1 0 0 1
Anemia 1 0 0 1
Angelman syndrome 1 0 0 1
Aniridia 1 1 0 0 1
Aortic aneurysm, familial thoracic 7 0 1 0 1
Argininosuccinate lyase deficiency 0 1 0 1
Arrhythmogenic right ventricular cardiomyopathy 1 0 0 1
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1 0 1 0 1
Arrhythmogenic right ventricular dysplasia 9 1 0 0 1
Ataxia-telangiectasia syndrome 1 0 0 1
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 0 1 0 1
Autoimmune lymphoproliferative syndrome type 1 1 0 0 1
Autoinflammatory syndrome, familial, Behcet-like 0 1 0 1
Autosomal dominant hypocalcemia 1 1 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 3A 1 0 0 1
Autosomal systemic lupus erythematosus type 16 1 0 0 1
Axenfeld-Rieger syndrome type 3 1 0 0 1
B3GALT6-congenital disorder of glycosylation 0 1 0 1
BCOR-related disorder 0 1 0 1
BICRA-related Coffin-Siris syndrome 0 1 0 1
BMPR1A-Related Polyposis Syndrome 1 0 0 1
BMPR2-related disorder 0 1 0 1
BRAT1-associated neurodegenerative disorder 1 0 0 1
BRIP1-related disorder 1 0 0 1
BRWD3- related syndromic intellectual disability 0 1 0 1
Bailey-Bloch congenital myopathy 1 0 0 1
Baraitser-Winter syndrome 1 0 1 0 1
Bardet-Biedl syndrome 1 1 0 0 1
Basilicata-Akhtar syndrome 0 1 0 1
Birt-Hogg-Dube syndrome 1 0 0 1
Bloom syndrome 1 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 0 0 1
Breast and colorectal cancer, susceptibility to 1 0 0 1
CACNA1A-related disorder 0 1 0 1
CD46-related atypical hemolytic uremic syndrome 1 0 0 1
CDC42-related disorder 0 1 0 1
CFB-related disorder 1 0 0 1
CHD8-related disorder 0 1 0 1
CLCN1-related disorder 1 0 0 1
CLCN1-related myotonia congenita 1 0 0 1
COASY-Related Disorders 0 1 0 1
COL11A1-related disorder 1 0 0 1
COL18A1-related disorder 1 0 0 1
COL2A1-related disorder 0 1 0 1
COL4A4-related disorder 0 1 0 1
COL5A1-related disorders 0 1 0 1
COL6A2-related disorder 1 0 0 1
CPOX-related disorder 0 1 0 1
CRB2-related disorder 0 1 0 1
CTNNB1-related disorder 1 0 0 1
Capillary malformation-arteriovenous malformation syndrome 0 1 0 1
Cardiac, facial, and digital anomalies with developmental delay 1 0 0 1
Cardiac-urogenital syndrome 0 1 0 1
Cardiomyopathy-hypotonia-lactic acidosis syndrome 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 3 0 1 0 1
Central core myopathy 1 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 1
Chudley-McCullough syndrome 0 1 0 1
Ciliary dyskinesia, primary, 40 0 1 0 1
Clark-Baraitser syndrome 1 0 0 1
Coenzyme Q10 deficiency, primary, 1 0 1 0 1
Coffin-Siris syndrome 1 0 1 0 1
Coffin-Siris syndrome 6 1 0 0 1
Combined immunodeficiency due to DOCK8 deficiency 1 0 0 1
Combined immunodeficiency due to LRBA deficiency 1 0 0 1
Complex cortical dysplasia with other brain malformations 5 0 1 0 1
Complex cortical dysplasia with other brain malformations 7 0 1 0 1
Congenital Adrenal Insufficiency 0 1 0 1
Congenital adrenal hypoplasia, X-linked 1 0 0 1
Congenital bile acid synthesis defect 1 0 1 0 1
Congenital central hypoventilation syndrome, with or without Hirschsprung disease 0 1 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 0 1
Congenital lactase deficiency 0 1 0 1
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 1 0 1
Congenital myasthenic syndrome 18 0 1 0 1
Congenital myasthenic syndrome 4B 1 0 0 1
Congenital myasthenic syndrome 5 1 0 0 1
Congenital myasthenic syndrome 8 0 1 0 1
Congenital secretory diarrhea, chloride type 0 1 0 1
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 1 0 0 1
Cornelia de Lange syndrome 3 0 1 0 1
Cornelia de Lange syndrome 5 1 0 0 1
Costello syndrome 1 0 0 1
Currarino triad 0 1 0 1
Cystinosis 1 0 0 1
Cystinuria 1 0 0 1
DDX3X-Related Neurodevelopmental Disorder 0 1 0 1
DEPDC5-related disorder 1 0 0 1
DES-related desminopathy 0 1 0 1
DMD-related disorder 1 0 0 1
DNM1-related disorders 0 1 0 1
DNM1L-related mitochondrial disorders 0 1 0 1
DNM2-related disorders 1 0 0 1
DNMT3A-related disorder 0 1 0 1
DSC2-related disorder 0 1 0 1
DYRK1A-related disorder 1 0 0 1
Deficiency of acetyl-CoA acetyltransferase 0 1 0 1
Deficiency of hydroxymethylglutaryl-CoA lyase 1 0 0 1
Deficiency of malonyl-CoA decarboxylase 0 1 0 1
Deletion syndrome 1 0 0 1
Developmental and epileptic encephalopathy, 11 0 1 0 1
Developmental and epileptic encephalopathy, 18 0 1 0 1
Developmental and epileptic encephalopathy, 19 0 1 0 1
Developmental and epileptic encephalopathy, 42 1 0 0 1
Developmental and epileptic encephalopathy, 64 0 1 0 1
Developmental and epileptic encephalopathy, 73 0 1 0 1
Developmental delay, impaired speech, and behavioral abnormalities 0 1 0 1
Diabetes mellitus, transient neonatal, 2 0 1 0 1
Diamond-Blackfan anemia 6 1 0 0 1
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 1 0 1
Dilated cardiomyopathy 1A 1 0 0 1
Distal arthrogryposis type 2B1 0 1 0 1
Doyne honeycomb retinal dystrophy 1 0 0 1
EARS2-related disorder 0 1 0 1
EDA-related disorder 0 1 0 1
EEF1A2-related disorder 0 1 0 1
EP300-related disorder 1 0 0 1
ERCC2-related disorder 1 0 0 1
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 1 0 1
Ectodermal dysplasia WNT10A related 1 0 0 1
Ellis-van Creveld syndrome 1 0 0 1
Epilepsy 0 1 0 1
Epilepsy, benign neonatal, 1, and/or myokymia 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 0 0 1 1
Episodic ataxia type 1 1 0 0 1
Episodic ataxia type 2 0 1 0 1
F8-related disorders 1 0 0 1
FBN2-related disorders 1 0 0 1
FBXO11-related disorder 0 1 0 1
FBXW7-related disorder 1 0 0 1
FBXW7-related neurodevelopmental disorder 0 1 0 1
FDXR-related disorder 1 0 0 1
FDXR-related mitochondrial disorder 1 0 0 1
FGA-related disorder 0 1 0 1
FGFR3-related disorder 1 0 0 1
FLT4-related disorders 0 1 0 1
FOXG1-related disorder 0 1 0 1
FOXP1-related neurodevelopmental disorder 1 0 0 1
Fabry disease 0 1 0 1
Factor XI deficiency 0 1 0 1
Factor XIII, A subunit, deficiency of 0 1 0 1
Familial hemophagocytic lymphohistiocytosis 5 0 1 0 1
Familial infantile myasthenia 0 1 0 1
Familial multiple polyposis syndrome 1 0 0 1
Focal dermal hypoplasia 0 1 0 1
G6PD TOMAH 1 0 0 1
GABBR2-related disorder 1 0 0 1
GBA-related disorder 1 0 0 1
GDF1-RELATED DISORDERS 0 1 0 1
GDF2-related vasculopathy 0 1 0 1
GIGYF1-related neurodevelopmental disorder 0 1 0 1
GJB6-related disorder 1 0 0 1
GLI3-related disorder 1 0 0 1
GNAO1-related disorder 0 1 0 1
GRHL2-related disorder 0 1 0 1
GRIN2A-Related Disorders 1 0 0 1
GRIN2B-related disorder 0 1 0 1
Gaucher disease type II 0 1 0 1
Geleophysic dysplasia 1 0 1 0 1
Glucocorticoid deficiency 1 1 0 0 1
Goldberg-Shprintzen syndrome 1 0 0 1
Gorlin syndrome 1 0 0 1
Griscelli syndrome type 2 0 1 0 1
H3F3A-related disorder 1 0 0 1
HACE1-related neurodevelopmental disorder 1 0 0 1
HBB-related hemoglobinopathies 1 0 0 1
HCFC1-related disorders 0 1 0 1
HCN1-related disorder 0 1 0 1
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 1 0 0 1
HNF1A-related disorders 1 0 0 1
HNF1B-related renal cysts and diabetes syndrome 1 0 0 1
HNRNPD-related neurodevelopmental disorder 1 0 0 1
HOXB13-Related Cancer Predisposition 1 0 0 1
HOXB13-related disorder 1 0 0 1
Harel-Yoon syndrome 1 0 0 1
Heart, malformation of 0 1 0 1
Hemolytic anemia, G6PD deficient (favism) 1 0 0 1
Hereditary lymphedema type I 0 1 0 1
Hereditary spastic paraplegia 52 1 0 0 1
Hereditary spherocytosis type 2 1 0 0 1
Hereditary von Willebrand disease 0 1 0 1
Heterotaxy, visceral, 5, autosomal 1 0 0 1
Hhypotonia, ataxia, and delayed development syndrome 0 1 0 1
Hirschsprung disease, susceptibility to, 1 1 0 0 1
Holt-Oram syndrome 1 0 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 1
Hypercholesterolemia, familial, 1 0 1 0 1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 1 0 0 1
Hypertrophic cardiomyopathy 11 0 1 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 1 0 1
Hypokalemic periodic paralysis, type 1 1 0 0 1
Hypotonia, ataxia, and delayed development syndrome 1 0 0 1
IDH2-related mitochondrial disease 0 1 0 1
ITPR1-related disorders 0 1 0 1
Idiopathic basal ganglia calcification 1 1 0 0 1
Inborn glycerol kinase deficiency 0 1 0 1
Infantile liver failure syndrome 1 0 1 0 1
Infantile-onset X-linked spinal muscular atrophy 1 0 0 1
Intellectual developmental disorder 62 1 0 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 1 0 1
Intellectual disability, X-linked 102 1 0 0 1
Intellectual disability, X-linked 99 0 1 0 1
Intellectual disability, autosomal dominant 43 0 1 0 1
Intellectual disability, autosomal dominant 45 0 1 0 1
Intellectual disability, autosomal dominant 5 1 0 0 1
Intellectual disability, autosomal dominant 51 0 1 0 1
Intellectual disability, autosomal dominant 52 0 0 1 1
Joubert syndrome 27 0 1 0 1
KARS-related disorder 1 0 0 1
KCNA2-related developmental and epileptic encephalopathy 0 1 0 1
KCNC1-related disorder 0 1 0 1
KCNH1-related disorder 0 1 0 1
KCQ1-related disorders 0 1 0 1
KDM6B-related disorder 0 1 0 1
KIF5A-related disorder 0 1 0 1
KIT-related disorder 1 0 0 1
KMT2B-related disorder 0 1 0 1
KRAS-related disorder 1 0 0 1
LAMA2-related disorder 1 0 0 1
LAMA3-Related Junctional Epidermolysis Bullosa 1 0 0 1
LARS1-related disorder 0 1 0 1
LDLR-related familial hypercholesterolemia 1 0 0 1
LPL-related disorder 1 0 0 1
LRBA deficiency 0 1 0 1
Left ventricular noncompaction 8 1 0 0 1
Leukocyte adhesion deficiency 3 1 0 0 1
Leukodystrophy, hypomyelinating, 14 0 1 0 1
Li-Fraumeni syndrome 1 0 0 1
Linear skin defects with multiple congenital anomalies 3 0 1 0 1
Lissencephaly due to LIS1 mutation 1 0 0 1
Loeys-Dietz syndrome 1 0 1 0 1
Loeys-Dietz syndrome 2 0 1 0 1
Long QT syndrome 1 1 0 0 1
Luscan-Lumish syndrome 0 1 0 1
Lymphatic malformation 12 1 0 0 1
Lymphatic malformation 7 0 1 0 1
Lynch syndrome 4 0 1 0 1
Lynch syndrome 5 1 0 0 1
MAX-related disorder 0 1 0 1
MBTPS2-related disorder 0 1 0 1
MED13-related neurodevelopmental disorder 0 1 0 1
MEDNIK syndrome 0 1 0 1
MEF2C Haploinsufficiency Syndrome 1 0 0 1
MOCS2-related molybdenum cofactor deficiency 0 1 0 1
MT-ATP6-related mitochondrial disease 1 0 0 1
MTM1-related disorder 1 0 0 1
MUTYH-related disorder 1 0 0 1
MYH2-related disorder 1 0 0 1
MYH6-related disorder 1 0 0 1
MYO7A-related disorder 0 1 0 1
MYT1L-related neurodevelopmental disorder 1 0 0 1
Maple syrup urine disease type 1A 1 0 0 1
Marfan syndrome 1 0 0 1
Marshall-Smith syndrome 1 0 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 0 1
Medulloblastoma 0 0 1 1
Melanoma, cutaneous malignant, susceptibility to, 8 1 0 0 1
Menkes kinky-hair syndrome 0 1 0 1
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 1 0 0 1
Methylcobalamin deficiency type cblG 1 0 0 1
Methylmalonic acidemia 1 0 0 1
Microcephaly 5, primary, autosomal recessive 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 1 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 12 0 0 1 1
Mitochondrial disease 1 0 0 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 0 1 0 1
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 1 0 1
Mucocutaneous ulceration 0 1 0 1
Mucopolysaccharidosis type 1 1 0 0 1
Mucopolysaccharidosis, MPS-IV-A 0 1 0 1
Muenke syndrome 1 0 0 1
Multiminicore myopathy 0 1 0 1
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 1 0 0 1
Multiple epiphyseal dysplasia type 4 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 1 1 0 0 1
Multisystemic smooth muscle dysfunction syndrome 1 0 0 1
Muscular dystrophy-dystroglycanopathy 1 0 0 1
Myoclonic dystonia 11 1 0 0 1
Myopathy, proximal, and ophthalmoplegia 0 1 0 1
NAA10-related disorder 1 0 0 1
NAD(P)HX dehydratase deficiency 0 1 0 1
NDP-Related Retinopathies 1 0 0 1
NEB-related disorder 0 1 0 1
NF1-related disorder 1 0 0 1
NFIA-Related Disorder 0 1 0 1
NLRP3-related disorder 0 1 0 1
NODAL-related disorder 0 1 0 1
NOTCH1-related disorder 0 1 0 1
NR2F2-Releated Disorders 0 1 0 1
NR2F2-related disorder 0 1 0 1
NSD2-related disorder 1 0 0 1
Nabais Sa-de Vries syndrome 0 1 0 1
Nephrotic syndrome, type 4 0 1 0 1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 0 1 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and variable seizures 1 0 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 1 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 1 0 1
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 1 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 1 0 1
Neurohypophyseal diabetes insipidus 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 0 0 1
Niemann-Pick disease, type C1 0 1 0 1
Nizon-Isidor syndrome 0 1 0 1
Nonsyndromic Hearing Loss and Deafness, Mitochondrial 1 0 0 1
Noonan syndrome 1 1 0 0 1
Noonan syndrome 10 1 0 0 1
Noonan syndrome 12 1 0 0 1
Noonan syndrome 2 0 1 0 1
Noonan syndrome 5 0 1 0 1
Noonan syndrome-like disorder with loose anagen hair 1 0 0 1
Noonan syndrome-like disorder with loose anagen hair 2 1 0 0 1
OFD1-related ciliopathy 0 1 0 1
OTX2-related disorder 0 1 0 1
Oculocerebrodental syndrome 0 1 0 1
Oculofaciocardiodental syndrome 0 1 0 1
Okur-Chung neurodevelopmental syndrome 1 0 0 1
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 1 0 0 1
Orofaciodigital syndrome type 14 0 1 0 1
Ovarian Cancers 1 0 0 1
PACS2-related disorder 1 0 0 1
PARK2-related Parkinson diseases 1 0 0 1
PAX2-Related Disorder 1 0 0 1
PCDH19-related epilepsy syndrome 1 0 0 1
PEX1-related Zellweger spectrum disorder 0 1 0 1
PEX13-related disorder 1 0 0 1
PGM1-congenital disorder of glycosylation 1 0 0 1
PHGDH deficiency 1 0 0 1
PHOX2B-related disorder 1 0 0 1
PIEZO1-related disorder 1 0 0 1
PIGV-related disorder 0 1 0 1
PIK3CA related overgrowth syndrome 0 1 0 1
PIK3R1-related disorder 1 0 0 1
PIK3R2-related disorder 1 0 0 1
PKLR-related disorder 0 1 0 1
PMS2-related cancer disorders 1 0 0 1
PNKP-related disorder 1 0 0 1
PNPT1-related disorder 0 1 0 1
POLE-related polyposis and colorectal cancer syndrome 0 1 0 1
PORCN-Related Developmental Disorders 0 1 0 1
PPA2-related disorder 0 1 0 1
PPP3CA-related disorder 0 1 0 1
PRKAR1A-related disorder 0 1 0 1
PRRT2-Related Disorder 1 0 0 1
PTCH1-related disorder 0 1 0 1
PTEN hamartoma tumor syndrome 1 0 0 1
PURA-related neurodevelopmental disorder 1 0 0 1
PYCR1-related disorder 0 1 0 1
Pancytopenia due to IKZF1 mutations 1 0 0 1
Periventricular nodular heterotopia 9 0 1 0 1
Permanent neonatal diabetes mellitus 0 1 0 1
Peroxisome biogenesis disorder 1B 1 0 0 1
Peroxisome biogenesis disorder 3A (Zellweger) 1 0 0 1
Perrault syndrome 3 0 1 0 1
Phelan-McDermid syndrome 1 0 0 1
Pheochromocytoma 0 1 0 1
Pheochromocytoma/paraganglioma syndrome 5 1 0 0 1
Polyagglutinable erythrocyte syndrome 1 0 0 1
Polycystic kidney disease 1 0 0 1
Polycystic kidney disease 2 1 0 0 1
Primary coenzyme Q10 deficiency 8 0 1 0 1
Primary familial hypertrophic cardiomyopathy 0 1 0 1
Progressive myoclonic epilepsy type 7 0 1 0 1
Pseudo-Hurler polydystrophy 0 1 0 1
Pseudopseudohypoparathyroidism 1 0 0 1
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 0 1 0 1
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 1 0 0 1
Pyruvate dehydrogenase E3 deficiency 1 0 0 1
QRICH1-related neurodevelopmental disorder 0 1 0 1
RAC3-related disorder 0 1 0 1
RAD21-related disorder 0 1 0 1
RAD51-related disorder 1 0 0 1
RAF1-related disorder 1 0 0 1
Radio-Tartaglia syndrome 0 1 0 1
Rauch-Steindl syndrome 1 0 0 1
Recessive dystrophic epidermolysis bullosa 1 0 0 1
Renal hypodysplasia/aplasia 3 0 1 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 0 1
SAMHD1-related disorder 0 1 0 1
SCN1A Seizure Disorders 1 0 0 1
SCN1B-related disorder 1 0 0 1
SCN9A-related disorder 0 1 0 1
SCNN1A-related disorder 1 0 0 1
SERAC1-related disorder 0 1 0 1
SERPING1-related disorder 1 0 0 1
SETBP1-related disorder 1 0 0 1
SETD2-related disorder 0 1 0 1
SETD5-related disorder 1 0 0 1
SIAH1-related neurodevelopmental disorder 0 1 0 1
SLC1A4-related spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 1 0 1
SLC2A1-related disorder 0 1 0 1
SLC4A1-related disorder 0 1 0 1
SLC5A1-related glucose/galactose malabsorption 1 0 0 1
SMAD2-related cardiac disorders 1 0 0 1
SMAD4-related disorder 1 0 0 1
SMARCA4-related disorder 0 1 0 1
SMARCB1-related disorder 0 1 0 1
STAT1-Related Immunodeficiency 0 1 0 1
STING-associated vasculopathy with onset in infancy 0 1 0 1
STXBP1-related disorder 1 0 0 1
SYNGAP1-related complex neurodevelopmental disorder 1 0 0 1
Scalp-ear-nipple syndrome 0 1 0 1
Schaaf-Yang syndrome 1 0 0 1
Schinzel-Giedion syndrome 1 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 1
Seizures, benign familial neonatal, 1 1 0 0 1
Severe combined immunodeficiency disease 0 1 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 1
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0 1 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 0 0 1 1
Severe neonatal-onset encephalopathy with microcephaly 1 0 0 1
Shprintzen-Goldberg syndrome 1 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 1
Sitosterolemia 1 0 0 1
Skraban-Deardorff syndrome 1 0 0 1
Snijders Blok-Campeau syndrome 0 1 0 1
Sox17- related disorders 0 1 0 1
Spinocerebellar ataxia 47 0 1 0 1
Spinocerebellar ataxia type 15/16 1 0 0 1
Spinocerebellar atrophy 0 1 0 1
Spondylocostal dysostosis 5 0 1 0 1
Spondyloepiphyseal dysplasia congenita 0 1 0 1
Spongy degeneration of central nervous system 1 0 0 1
Stickler syndrome type 1 1 0 0 1
Sulfite oxidase deficiency 1 0 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 0 1 0 1
Syndromic X-linked intellectual disability 34 1 0 0 1
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 0 1 0 1
TAOK1-related disorder 1 0 0 1
TARP syndrome 0 1 0 1
TBCK-related disorder 1 0 0 1
TBL1XR1-related disorder 0 1 0 1
TBX1-related disorder 0 1 0 1
TBX4-related disorder 0 1 0 1
TCF12-related craniosynostosis 1 0 0 1
TET3-Related Beck-Fahrner Syndrome 0 1 0 1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 1 0 1
TNFRSF13B-related disorder 0 1 0 1
TNNT2-related disorder 0 1 0 1
TNRC6B-related neurodevelopmental disorder 0 1 0 1
TOR1A-related disorder 1 0 0 1
TPM1-related disorder 1 0 0 1
TRAF7-related disorder 0 1 0 1
TRPV4-Associated Disorders 1 0 0 1
TRPV4-related disorder 1 0 0 1
TSC2-related disorder 0 1 0 1
TSEN54 Pontocerebellar Hypoplasia 1 0 0 1
TSHR-related disorder 0 1 0 1
TTR-related disorder 1 0 0 1
TUBB2A-related tubulinopathy 0 1 0 1
TUBB3-Releated Disorders 1 0 0 1
TUBB3-related disorder 1 0 0 1
TWIST1-related craniofacial disorders 0 1 0 1
Teratoid tumor, atypical 1 0 0 1
Thrombophilia due to thrombin defect 1 0 0 1
Torsion dystonia 6 0 1 0 1
Treacher Collins syndrome 2 0 1 0 1
Treacher Collins syndrome 3 0 1 0 1
Trichorhinophalangeal dysplasia type I 1 0 0 1
Tuberous sclerosis 2 1 0 0 1
Tyrosine hydroxylase deficiency 1 0 0 1
U2AF2-related neurodevelopmental disorder 1 0 0 1
UBA2-related disorder 0 1 0 1
UBA5-related disorder 1 0 0 1
UBE4A-related neurodevelopmental disorder 0 1 0 1
UMOD-related disorder 0 1 0 1
UPF3B-related neurodevelopmental disorder 1 0 0 1
Ullrich congenital muscular dystrophy 2 1 0 0 1
VARS2-related disorder 0 1 0 1
VCP-related disorder 0 1 0 1
VWF-related disorder 1 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 1 0 0 1
Warfarin response 1 0 0 1
Wieacker-Wolff syndrome 0 1 0 1
Wilson disease 1 0 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 1 0 0 1
X-linked dominant chondrodysplasia, Chassaing-Lacombe type 0 1 0 1
X-linked intellectual disability 0 1 0 1
X-linked intellectual disability Cabezas type 0 1 0 1
X-linked intellectual disability, Cantagrel type 0 1 0 1
X-linked lymphoproliferative disease due to SH2D1A deficiency 0 1 0 1
X-linked severe combined immunodeficiency 1 0 0 1
intellectual developmental disorder-50 with behavioral abnormalities (MRD50) 1 0 0 1
not specified 0 0 1 1
von Willebrand disease type 2 0 1 0 1

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