ClinVar Miner

Variants from Dubai Health Genomic Medicine Center, Dubai Health

Location: United Arab Emirates  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
491 370 433 164 182 1625

Gene and significance breakdown #

Total genes and gene combinations: 1057
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF1 16 10 0 0 0 26
ABCA4 7 5 0 0 1 13
CFTR 7 2 3 0 0 12
TTN 0 1 5 2 2 10
SLC26A4 2 5 1 1 0 9
BTD 3 5 0 0 0 8
SYNE1 0 0 7 1 0 8
TSC2 6 0 1 1 0 8
COL6A3 0 0 3 4 0 7
IFIH1 3 3 4 1 0 7
PAH 7 0 0 0 0 7
PKD1 5 2 0 0 0 7
CHD7 3 3 0 0 0 6
FGFR3 5 0 0 0 1 6
KMT2D 6 0 0 0 0 6
LYST 1 2 1 1 1 6
MEFV 2 2 3 0 0 6
PLEC 0 0 0 3 3 6
RYR1 1 1 3 1 0 6
ADGRV1 0 0 2 3 0 5
ARID1B 3 1 0 1 0 5
CNGA3 4 1 0 0 0 5
CRB1 1 3 1 0 0 5
DEPDC5 2 0 2 1 0 5
GAA 3 2 0 0 0 5
GJB2 5 0 0 0 0 5
LOC126862264, MEFV 4 0 0 0 1 5
LOXHD1 2 0 3 0 0 5
NPC1 0 0 1 1 3 5
ANKRD11 3 0 1 0 0 4
CEP290 4 0 0 0 0 4
CPS1 0 2 2 0 0 4
GLB1 1 3 0 0 0 4
GRIN2B 1 1 2 0 0 4
HBB, LOC106099062, LOC107133510 4 0 0 0 0 4
IFNAR2, IFNAR2-IL10RB 2 2 0 0 0 4
IVD 1 3 0 0 0 4
KCNQ2 4 0 0 0 0 4
LAMA2 1 0 2 1 0 4
LARS2 0 0 2 1 1 4
MECP2 2 1 0 1 0 4
MVK 1 1 1 1 0 4
NEB 0 0 1 2 1 4
NLRP12 3 0 2 0 0 4
NOD2 0 0 2 1 1 4
OTOG 0 0 1 2 1 4
PEX6 1 1 1 1 0 4
PKHD1 1 1 2 0 0 4
PNPO 2 1 1 0 0 4
SLC12A3 2 1 1 0 0 4
SPG11 0 1 2 0 1 4
SPTAN1 1 1 2 1 0 4
TMEM67 2 1 0 1 0 4
TRIOBP 0 0 2 1 1 4
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 2 1 1 0 0 4
UNC13D 1 1 2 0 0 4
ZFYVE26 0 0 3 0 1 4
ABCA12 0 3 0 0 0 3
ALDH7A1 1 2 0 0 0 3
ASXL3 1 0 0 2 0 3
ATM 1 0 0 0 2 3
ATP8B1 1 0 0 0 2 3
CC2D2A 1 1 1 0 0 3
COL11A2 1 0 1 1 0 3
COL4A3, MFF-DT 1 0 2 0 0 3
COL6A2 0 1 1 1 0 3
CSPP1 0 1 0 0 2 3
CTNS 2 0 1 0 0 3
CUL7 1 2 0 0 0 3
CYP1B1 0 1 2 0 0 3
DMD 3 0 0 0 0 3
DNAH1 0 0 2 1 0 3
DNAH11 0 1 0 1 1 3
DOK7 1 1 0 1 0 3
DONSON 1 2 0 0 0 3
DST 0 0 1 2 0 3
DUOX2 0 1 3 0 0 3
DYSF 0 0 1 0 2 3
FBN1 2 1 0 0 0 3
FBXL4 1 1 1 0 0 3
FGFR1 1 0 0 1 1 3
FLNB 0 1 1 1 0 3
GNPTAB 1 0 1 0 1 3
GPR179 0 0 2 1 0 3
HSD17B4 0 1 2 0 0 3
HSPG2 0 0 0 0 3 3
IFI44 1 2 0 0 0 3
INPP5E 1 2 0 0 0 3
KMT2A 0 2 1 0 0 3
LALTOP, TPO 2 0 0 1 0 3
LAMC3 0 0 0 1 2 3
LARGE1 0 0 2 0 1 3
LMNA 1 1 1 0 0 3
LOC126859690, PKHD1 1 0 1 1 0 3
MAN2B1 0 3 0 0 0 3
MMUT 2 1 0 0 0 3
MVP-DT, PRRT2 1 0 2 0 0 3
MYBPC3 2 1 1 0 0 3
MYO15A 0 0 3 0 0 3
NLRP1 0 0 2 0 1 3
NPHS1 0 2 0 0 1 3
NSD1 3 0 0 0 0 3
PTEN 2 1 0 0 0 3
RELN 0 0 3 0 0 3
SALL1 0 0 1 1 1 3
SCN3A 1 1 1 0 0 3
SETX 0 0 1 2 0 3
SGCA 2 0 1 0 0 3
SPART 0 1 2 0 0 3
STAT2 0 3 0 0 0 3
STXBP1 2 1 0 0 0 3
TNFRSF13B 0 0 3 0 0 3
TRAPPC11 1 0 2 0 0 3
VWF 1 2 0 0 0 3
WDR81 0 2 1 0 0 3
WWOX 2 0 1 0 0 3
A2ML1 0 0 1 0 1 2
ABCB11 0 0 2 0 0 2
ACADM 2 0 0 0 0 2
ACAN 1 1 0 0 0 2
ACTB 0 2 0 0 0 2
ADGRE2 0 0 2 0 0 2
AGBL5 0 1 1 0 0 2
AIRE 0 1 1 0 0 2
ALDH18A1 1 0 1 0 0 2
ALG13 1 0 0 0 1 2
AMPD1 0 0 0 0 2 2
ANK1 2 0 0 0 0 2
AP1S3 0 0 0 1 1 2
APC 0 1 0 1 0 2
ARSA 2 0 0 0 0 2
ARSB 1 0 1 0 0 2
ASNS, CZ1P-ASNS 1 1 0 0 0 2
ASPM 1 1 0 0 0 2
ATM, C11orf65 2 0 0 0 0 2
ATP1A3 1 0 1 0 0 2
ATP9A 0 2 0 0 0 2
BEST1 0 2 0 0 0 2
BLTP1 0 0 2 0 0 2
BRAF 2 0 0 0 0 2
C3 0 0 2 0 0 2
CACNA1D 0 0 2 0 0 2
CAPN3 0 0 2 0 0 2
CASQ2 0 0 0 0 2 2
CCDST, FLG 0 0 0 2 0 2
CCNO, LOC129993895 2 0 0 0 0 2
CD36 2 0 0 0 0 2
CDH3 2 0 0 0 0 2
CDKL5, RS1 2 0 0 0 0 2
CDKN1C 1 0 1 0 0 2
CEP104 0 0 2 0 0 2
CHRNA4 0 0 2 0 0 2
CLDN19 0 2 0 0 0 2
CNGB3 0 2 0 0 0 2
COL18A1 1 1 0 0 0 2
COL4A1 0 1 0 1 0 2
COL6A1 0 0 0 2 0 2
COL9A2 0 1 0 0 1 2
COQ8A 0 0 0 1 1 2
CREBBP 0 1 0 0 1 2
CTCF 2 0 0 0 0 2
CYP21A2, LOC106780800 1 0 1 0 0 2
CYP2B6 0 0 0 0 2 2
DARS2 0 0 1 1 0 2
DIAPH1 1 0 0 1 0 2
DMAC2L, L2HGDH 0 0 1 0 1 2
DMGDH 0 0 2 0 0 2
DNAH5 1 0 0 0 1 2
DOCK8 1 0 0 0 1 2
DSC2 0 0 1 0 1 2
DYNC1H1 0 1 1 0 0 2
DYNC2H1 0 1 1 0 0 2
EIF2AK3 0 2 0 0 0 2
ENPP1 0 0 1 0 1 2
EPG5 0 2 0 0 0 2
ETFDH 1 1 0 0 0 2
ETHE1 1 0 1 0 0 2
EVC2 0 1 0 0 1 2
EXT1 2 0 0 0 0 2
EYS 0 1 0 1 0 2
F2 1 0 1 0 0 2
FAH 2 0 0 0 0 2
FANCD2, LOC107303338 0 0 1 1 0 2
FAT2 0 0 2 0 0 2
FGD1 1 1 0 0 0 2
FGFR2 0 0 0 0 2 2
FKBP10 1 1 0 0 0 2
FLNC 0 1 0 1 0 2
FOXC1 0 0 0 1 1 2
FOXG1 2 0 0 0 0 2
GABRB2 0 1 1 0 0 2
GABRB3 1 1 0 0 0 2
GALT 2 0 0 0 0 2
GATA3 1 1 0 0 0 2
GH-LCR, SCN4A 0 0 1 0 1 2
GLA, RPL36A-HNRNPH2 0 1 0 0 1 2
GLDC 0 2 0 0 0 2
GNAS 2 0 0 0 0 2
GRIN2A 0 1 1 0 0 2
GTPBP3 0 2 0 0 0 2
HACD1 0 1 1 0 0 2
HECW2 0 1 1 0 0 2
HGSNAT 1 0 0 0 1 2
HYDIN 0 0 0 1 1 2
IDS, LOC106050102 0 0 0 0 2 2
IDUA, SLC26A1 0 0 0 0 2 2
IFNAR1 0 2 0 0 0 2
IL1RN 0 0 1 1 0 2
IL6ST 0 0 0 0 2 2
INPPL1 0 1 1 0 0 2
INTS1 0 0 0 1 1 2
IRAK3 1 1 0 0 0 2
KAT6A 0 1 0 0 1 2
KCNJ11 1 0 1 0 0 2
KCNV2 2 0 0 0 0 2
KIF1C 0 0 2 0 0 2
KMT2C 0 1 1 0 0 2
KMT2C, LOC123956272 0 0 2 0 0 2
LAMB2 0 0 0 1 1 2
LAMB3 1 1 0 0 0 2
LRBA 0 0 0 2 0 2
LRP5 0 0 1 1 0 2
LTBP4 0 0 0 0 2 2
MACF1 0 0 2 0 0 2
MC4R 1 1 0 0 0 2
MED13L 1 0 0 0 1 2
MEIS2 1 1 0 0 0 2
MERTK 1 1 0 0 0 2
METTL23 1 1 0 0 0 2
MICU1 0 1 1 0 0 2
MIPEP 0 1 0 1 0 2
MYH9 1 0 1 0 0 2
MYO5B 1 1 0 0 0 2
NALCN 0 0 0 1 1 2
NCKAP1L 0 2 0 0 0 2
NELL1 0 0 1 1 0 2
NOTCH2 0 0 0 2 0 2
NR2E3 1 1 0 0 0 2
NRXN1 0 0 1 0 1 2
NUTM2B 0 0 0 0 2 2
OCLN 1 1 0 0 0 2
OFD1 1 1 0 0 0 2
ORC1 0 0 1 0 1 2
PACS2 1 0 1 0 0 2
PAX2 1 0 1 0 0 2
PCARE 0 1 1 0 0 2
PCCA 1 1 0 0 0 2
PDHA1 2 0 0 0 0 2
PKP2 0 1 1 0 0 2
PLCG2 0 0 1 0 1 2
POLD1 1 0 1 0 0 2
POLG 1 0 1 0 0 2
PRG4 2 0 0 0 0 2
PROC 0 2 0 0 0 2
PTPN11 1 1 0 0 0 2
PYCR2 1 1 0 0 0 2
PYGM 0 1 1 0 0 2
RARS1 0 1 0 1 0 2
RET 0 0 1 0 1 2
RIT1 2 0 0 0 0 2
RLBP1 0 0 2 0 0 2
ROR2 0 0 1 1 0 2
RPE65 1 1 0 0 0 2
RYR2 0 0 1 0 1 2
SAMD9 1 0 1 0 0 2
SETD5 1 0 1 0 0 2
SIK1 0 0 2 0 0 2
SKIC3 0 0 1 0 1 2
SLC26A3 2 0 0 0 0 2
SLX4 0 0 0 1 1 2
SMPD1 0 1 0 0 1 2
SNHG14, UBE3A 1 1 0 0 0 2
SNX10 0 2 0 0 0 2
SOX5 2 0 0 0 0 2
SPAST 1 1 0 0 0 2
SPINK5 2 0 0 0 0 2
SRD5A3 2 0 0 0 0 2
SSH1 0 0 0 2 0 2
SUMF1 1 1 0 0 0 2
SYNJ1 0 1 1 0 0 2
TANGO2 0 1 1 0 0 2
TBC1D24 0 0 0 1 1 2
TBC1D8B 0 0 0 0 2 2
TCF4 1 1 0 0 0 2
TGFB2 0 0 0 0 2 2
TICAM1 0 2 0 0 0 2
TLR6 1 1 0 0 0 2
TMC1 1 1 0 0 0 2
TMEM138 0 2 0 0 0 2
TRAP1 0 0 1 1 0 2
TRIO 0 1 1 0 0 2
TSPOAP1 0 0 0 2 0 2
USH2A 0 0 0 2 0 2
VDR 0 1 0 0 1 2
VPS13B 0 1 0 1 0 2
XYLT1 0 1 1 0 0 2
ZNF141 0 0 0 0 2 2
AARS1 0 0 1 0 0 1
ABCA2 0 0 0 1 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GPSM1, GRIN1, INPP5E, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, ZMYND19 1 0 0 0 0 1
ABCA4, LOC126805793 0 1 0 0 0 1
ABCA4, LOC126805794 0 1 0 0 0 1
ABCB6 0 0 0 0 1 1
ABCG2 1 0 1 0 0 1
ABCG8 1 0 0 0 0 1
ACAT1 0 1 0 0 0 1
ACO2 0 1 0 0 0 1
ACOX2 0 0 0 1 0 1
ACP5 0 0 0 1 0 1
ADAM17 0 0 0 1 0 1
ADAMTSL1 0 0 1 0 0 1
ADAMTSL4 0 0 0 1 0 1
ADAT3, SCAMP4 1 0 0 0 0 1
ADD3 1 0 0 0 0 1
ADNP 0 0 1 0 0 1
AFG2A 0 0 1 0 0 1
AGA 0 1 0 0 0 1
AGBL2 0 0 1 0 0 1
AGMO 0 0 1 0 0 1
AGR2 0 1 0 0 0 1
AGXT 1 0 0 0 0 1
AHDC1 0 0 1 0 0 1
AHI1 0 0 1 0 0 1
AKAP9 0 0 0 1 0 1
AKR1D1 0 1 0 0 0 1
ALDH1A3 0 1 0 0 0 1
ALDH3A2 1 0 0 0 0 1
ALG9 0 0 1 0 0 1
ALMS1 0 0 0 0 1 1
ALMS1, LOC126806252 1 0 0 0 0 1
ALOX12B 0 0 1 0 0 1
ALPI 0 0 1 0 0 1
ALPL 1 0 0 0 0 1
AMPD2, LOC126805822 0 1 0 0 0 1
ANK3 0 0 1 0 0 1
ANKRD26 0 0 1 0 0 1
ANKRD37, UFSP2 0 1 0 0 0 1
ANO5 1 0 0 0 0 1
ANTXR2 1 0 0 0 0 1
AOX1 0 0 1 0 0 1
AP1G1 1 0 0 0 0 1
AP1S2 1 0 0 0 0 1
AP4B1 0 0 1 0 0 1
AP4E1 0 1 0 0 0 1
AP4S1 0 1 0 0 0 1
APOL1 0 0 1 0 0 1
AQP2, AQP5 1 0 0 0 0 1
ARAP3 0 0 1 0 0 1
ARHGEF10 0 0 0 0 1 1
ARHGEF18 0 0 0 0 1 1
ARHGEF9 0 0 0 1 0 1
ARID2 0 0 1 0 0 1
ARPC1B 0 0 1 0 0 1
ARSB, LOC129994126 0 0 1 0 0 1
ASAH1 0 1 0 0 0 1
ASH1L 1 0 0 0 0 1
ASL 0 1 0 0 0 1
ASPN, CENPP 0 0 0 0 1 1
ASS1 1 0 0 0 0 1
ATAD3A 0 0 1 0 0 1
ATIC, FN1 0 0 0 0 1 1
ATN1, LOC109461484 0 0 1 0 0 1
ATP13A2 0 0 1 0 0 1
ATP1A2 0 0 1 0 0 1
ATP8A2 0 0 1 0 0 1
ATRX 0 1 0 0 0 1
ATXN2, LOC130008791 0 0 0 0 1 1
ATXN7 0 0 1 0 0 1
AUH 0 1 0 0 0 1
AVIL 0 1 0 0 0 1
AVPR2 0 0 0 0 1 1
B3GALNT2 1 0 0 0 0 1
B3GAT3 1 0 0 0 0 1
BBS10 1 0 0 0 0 1
BBS12 0 1 0 0 0 1
BBS2 1 0 0 0 0 1
BCHE 1 0 0 0 0 1
BCL11A 0 1 0 0 0 1
BCR 0 0 1 0 0 1
BCS1L 1 0 0 0 0 1
BFSP1 0 0 1 0 0 1
BIRC6 0 0 1 0 0 1
BIVM-ERCC5, ERCC5 0 1 0 0 0 1
BMPR2 1 0 0 0 0 1
BPTF 0 0 0 0 1 1
BRPF1 1 0 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 0 0 1
C12orf57 1 0 0 0 0 1
C2CD3 0 0 0 0 1 1
C4B 1 0 0 0 0 1
C9 0 1 0 0 0 1
CA2 1 0 0 0 0 1
CACNA1A 0 0 1 0 0 1
CACNA1C 0 0 1 0 0 1
CACNA1S 0 0 0 0 1 1
CANT1 0 1 0 0 0 1
CARMIL2 1 0 0 0 0 1
CASK 1 0 0 0 0 1
CASP10 0 0 1 0 0 1
CAST, LOC101929710, PCSK1 0 1 0 0 0 1
CAV1 0 0 1 0 0 1
CCDC40 0 0 0 1 0 1
CCDC88C 0 0 0 0 1 1
CCN6 1 0 0 0 0 1
CD163 1 0 0 0 0 1
CD247 0 0 1 0 0 1
CD2AP 0 0 1 0 0 1
CD2BP2-DT, TBC1D10B 0 0 1 0 0 1
CD3D 1 0 0 0 0 1
CD40LG 0 1 0 0 0 1
CD84 1 0 0 0 0 1
CDH23 1 0 0 0 0 1
CDHR1 0 0 1 0 0 1
CDK10 1 0 0 0 0 1
CDK13 0 1 0 0 0 1
CEL 1 0 0 0 0 1
CEP120 0 0 0 0 1 1
CEP164 0 0 1 0 0 1
CEP19 0 0 0 0 1 1
CERS1, GDF1 0 1 0 0 0 1
CERS3 0 1 0 0 0 1
CFH 0 0 0 0 1 1
CFHR5 0 0 1 0 0 1
CFL2 0 0 0 0 1 1
CFTR, LOC111674472 1 0 0 0 0 1
CFTR, LOC111674475 1 0 0 0 0 1
CFTR, LOC113633877 1 0 0 0 0 1
CHAT 0 0 1 0 0 1
CHD3, LOC126862484 0 0 1 0 0 1
CHIT1 0 0 0 0 1 1
CHRNA1 0 0 1 0 0 1
CHRNA7 0 0 0 1 0 1
CHRNB1 1 0 0 0 0 1
CHRND 0 0 0 1 0 1
CHRNE 1 0 0 0 0 1
CHRNG 0 1 0 0 0 1
CIC 0 0 1 0 0 1
CIT 0 1 0 0 0 1
CLCNKB, LOC106501713 0 1 0 0 0 1
CLDN14 0 0 1 0 0 1
CLDN16 0 0 1 0 0 1
CLN6 0 0 0 1 0 1
CLN8 0 0 0 1 0 1
CLRN1 0 0 1 0 0 1
CNOT1 1 0 0 0 0 1
COG6 1 0 0 0 0 1
COL11A1 0 0 0 1 0 1
COL1A1 1 0 0 0 0 1
COL1A2 0 0 1 0 0 1
COL27A1 1 0 0 0 0 1
COL4A6 0 0 0 0 1 1
COL5A1 0 0 0 0 1 1
COL7A1 0 1 0 0 0 1
COPA 0 0 0 1 0 1
COQ6 0 0 0 0 1 1
COQ8B 0 0 0 0 1 1
COQ9 1 0 0 0 0 1
CPLANE1 1 0 0 0 0 1
CPT2 0 0 1 0 0 1
CRYBA4, CRYBB1 0 0 0 1 0 1
CSF3R 0 0 1 0 0 1
CSNK2A1 1 0 0 0 0 1
CSNK2B 1 0 0 0 0 1
CTNNA3 0 0 1 0 0 1
CTNNB1 0 1 0 0 0 1
CTRC 1 0 0 0 0 1
CTSK 0 1 0 0 0 1
CTU2 1 0 0 0 0 1
CWC27 0 0 0 0 1 1
CYBB 0 0 1 0 0 1
CYP17A1 1 0 0 0 0 1
CYP21A2, LOC106780800, TNXB 1 0 0 0 0 1
CYP4V2 0 0 0 1 0 1
DBT 0 1 0 0 0 1
DCDC2 0 0 1 0 0 1
DCLRE1C 0 0 1 0 0 1
DDB1 0 1 0 0 0 1
DGAT1 1 1 0 0 0 1
DGAT1, MIR6848 0 1 0 0 0 1
DGUOK 1 0 0 0 0 1
DHCR7 0 0 1 0 0 1
DHODH 0 1 0 0 0 1
DKC1 0 0 1 0 0 1
DLD 1 0 0 0 0 1
DLL1 1 0 0 0 0 1
DLX6 0 0 0 1 0 1
DMXL2 0 0 1 0 0 1
DNAJB2 0 0 1 0 0 1
DNASE1L3 1 0 0 0 0 1
DNHD1 0 0 0 0 1 1
DNM2 0 0 0 1 0 1
DOCK2 0 0 1 0 0 1
DOCK6 0 1 0 0 0 1
DOK1, LOXL3 1 0 0 0 0 1
DSE 0 0 1 0 0 1
DSE, LOC129997034, TSPYL1 0 0 0 0 1 1
DYRK1A 0 1 0 0 0 1
ECEL1 0 1 0 0 0 1
EDA 1 0 0 0 0 1
EDARADD 0 1 0 0 0 1
EFCAB13-DT, ITGB3 0 1 0 0 0 1
EFL1 0 0 1 0 0 1
EHMT1, LOC130003135 1 0 0 0 0 1
EIF2B2 0 0 0 1 0 1
ELMOD3 0 0 1 0 0 1
EMC10 1 0 0 0 0 1
EP300 0 0 1 0 0 1
EP400 0 0 0 0 1 1
EPB41L1 0 0 1 0 0 1
EPM2A, EPM2A-DT, LOC129997381 0 0 1 0 0 1
EPS8 0 0 0 1 0 1
ERCC1 0 0 0 0 1 1
ERCC6 0 0 0 0 1 1
ERCC6, PGBD3 0 0 0 0 1 1
ESPN 0 0 1 0 0 1
EXOC7 1 0 0 0 0 1
EXOSC9 1 0 0 0 0 1
EXT2, LOC130005598 0 0 0 0 1 1
EYA1 0 1 1 0 0 1
EYS, PHF3 0 0 0 0 1 1
F5 0 0 1 0 0 1
FANCA, ZNF276 0 0 1 0 0 1
FANCC 1 0 0 0 0 1
FBP1 0 1 0 0 0 1
FBP2, PCAT7 0 0 0 0 1 1
FBXO22 1 0 1 0 0 1
FBXO7 0 0 1 0 0 1
FBXW7 0 1 0 0 0 1
FDFT1 0 0 1 0 0 1
FERMT1 0 0 0 1 0 1
FERMT3 1 0 0 0 0 1
FERRY3 0 0 0 0 1 1
FGA 0 0 1 0 0 1
FGF12 1 0 0 0 0 1
FH 0 0 1 0 0 1
FIBP 0 1 0 0 0 1
FKRP 0 0 1 0 0 1
FLNA 0 0 1 0 0 1
FOXE1 0 0 1 0 0 1
FOXL2 1 0 0 0 0 1
FOXP1 0 1 0 0 0 1
FOXP2 0 0 1 0 0 1
FRRS1L 0 1 0 0 0 1
FUCA1 0 1 0 0 0 1
FZD2 1 0 0 0 0 1
G6PC1 0 0 1 0 0 1
G6PD 1 0 0 0 0 1
GABBR2 0 0 1 0 0 1
GABRA1 1 0 0 0 0 1
GALC 0 1 0 0 0 1
GALE 0 0 1 0 0 1
GALNS 1 0 0 0 0 1
GALNS, LOC126862447 0 0 0 0 1 1
GALNT3 0 1 0 0 0 1
GAMT, LOC130062945 0 1 0 0 0 1
GATA4 0 0 0 0 1 1
GATAD1, PEX1 0 0 1 0 0 1
GBE1 0 0 1 0 0 1
GBF1, PITX3 0 0 1 0 0 1
GCK 0 1 0 0 0 1
GFAP 0 0 1 0 0 1
GFRA1 0 1 0 0 0 1
GHR 1 0 0 0 0 1
GHSR 0 0 1 0 0 1
GIGYF2 0 0 1 0 0 1
GIPC3 0 0 1 0 0 1
GJB4 0 0 0 0 1 1
GLI3 0 0 1 0 0 1
GLMN 1 0 0 0 0 1
GNAO1 1 0 0 0 0 1
GNAT1 0 0 1 0 0 1
GNAT2 1 0 0 0 0 1
GNE 0 1 0 0 0 1
GNG12, WLS 1 0 0 0 0 1
GPHN, RDH12 1 0 0 0 0 1
GPI 0 0 1 0 0 1
GPIHBP1 0 0 1 0 0 1
GPSM2, LOC129931083 0 0 0 0 1 1
GYG2 0 0 0 1 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 1
HEXA 1 0 0 0 0 1
HEXB 0 1 0 0 0 1
HGD 1 0 0 0 0 1
HHAT 0 0 1 0 0 1
HIVEP2 1 0 0 0 0 1
HNF1A 0 0 1 0 0 1
HOXA11, LOC107126281 0 0 1 0 0 1
HOXA3 0 0 0 0 1 1
HPS3 1 0 0 0 0 1
HPS4 0 0 0 0 1 1
HSALR1, PIEZO1 0 0 0 0 1 1
HSD11B2 0 1 0 0 0 1
HSD3B7 1 0 0 0 0 1
HSPG2, LDLRAD2 0 0 0 1 0 1
HTT, LOC109461479, LOC129929027 0 0 1 0 0 1
IBA57 0 1 0 0 0 1
IFI27L1 0 1 0 0 0 1
IFI44L 1 0 0 0 0 1
IFNA10 0 1 0 0 0 1
IFNA14 0 1 0 0 0 1
IFNA21 1 0 0 0 0 1
IFNA4 1 0 0 0 0 1
IFNA6 1 0 0 0 0 1
IFNB1 1 0 0 0 0 1
IFNGR2 0 0 1 0 0 1
IFNGR2, TMEM50B 0 1 0 0 0 1
IFNL2 0 1 0 0 0 1
IFRD2, LOC129936788 0 0 1 0 0 1
IFT43 0 0 1 0 0 1
IGFBP7 0 1 0 0 0 1
IGHMBP2 1 0 0 0 0 1
IKBKB 0 1 0 0 0 1
IKBKE 0 0 1 0 0 1
IKZF1 1 0 0 0 0 1
IL17RB 0 0 1 0 0 1
IL17RC, LOC129936143 0 0 0 1 0 1
IL22RA2 1 0 0 0 0 1
IL2RG 0 1 0 0 0 1
ILDR1 0 0 1 0 0 1
IMPDH1 1 0 0 0 0 1
INF2 0 0 0 1 0 1
INS 1 0 0 0 0 1
INSR 0 1 0 0 0 1
IQCB1 1 0 0 0 0 1
IRF3 1 0 0 0 0 1
IRF6 0 0 0 0 1 1
IRF7 0 0 1 0 0 1
ITFG2 0 1 0 0 0 1
ITGA6 0 1 0 0 0 1
ITGA7 0 0 0 0 1 1
ITGB3 0 1 0 0 0 1
JAG1 1 0 0 0 0 1
JAM3 1 0 0 0 0 1
JMJD1C 0 0 1 0 0 1
KANK1 0 0 0 1 0 1
KANSL1 0 0 1 0 0 1
KAT6B 1 0 0 0 0 1
KCNB1 0 0 1 0 0 1
KCNC1 0 0 0 1 0 1
KCNJ1 1 0 0 0 0 1
KCNJ10 0 0 1 0 0 1
KCNMA1 0 0 0 1 0 1
KCNQ1 0 0 1 0 0 1
KDM6B 0 1 0 0 0 1
KDM6B, LOC121587574 0 1 0 0 0 1
KIAA0586 0 0 0 0 1 1
KIF14 0 1 0 0 0 1
KIF5C 0 1 0 0 0 1
KIF7 0 0 1 0 0 1
KIF7, TICRR 0 0 1 0 0 1
KIRREL1 0 0 0 0 1 1
KLHL7 1 0 0 0 0 1
KMT2B 1 0 0 0 0 1
KMT2E 0 1 0 0 0 1
KRT18, KRT8, LOC106096416 0 0 0 0 1 1
KRTAP10-12, TSPEAR 0 0 0 1 0 1
KRTAP10-3, TSPEAR 0 0 0 1 0 1
L2HGDH 0 0 1 0 0 1
LAMC2 0 0 0 0 1 1
LAMP2 0 0 0 0 1 1
LARP7, MIR302CHG 0 1 0 0 0 1
LCA5 0 1 0 0 0 1
LDB3 0 0 1 0 0 1
LDHAL6B, MYO1E 0 0 0 1 0 1
LDLR 0 1 0 0 0 1
LFNG 0 0 0 0 1 1
LHFPL5 0 1 0 0 0 1
LIFR 1 0 0 0 0 1
LINS1 1 0 0 0 0 1
LIPA 0 0 0 0 1 1
LOC102724058, SCN1A 1 0 0 0 0 1
LOC106029312, NCF1 1 0 0 0 0 1
LOC109611589, RUNX2 0 0 0 0 1 1
LOC111811965, MIR4733HG, NF1 1 0 0 0 0 1
LOC112533671, TSEN54 0 0 0 0 1 1
LOC112577486, PLOD1 0 0 0 1 0 1
LOC121725046, VANGL1 0 0 0 0 1 1
LOC121740638, TFAP2A 0 0 1 0 0 1
LOC123522803, STING1 0 0 1 0 0 1
LOC125467768, PCDH19 1 0 0 0 0 1
LOC126805612, PIK3CD 0 0 1 0 0 1
LOC126806426, TTN 0 0 0 1 0 1
LOC126859837, SYNE1 0 0 1 0 0 1
LOC126861110, TALDO1 1 0 0 0 0 1
LOC126863145, TRIOBP 0 0 1 0 0 1
LOC126863256, WDR45 1 0 0 0 0 1
LOC129937339, NDUFB4 0 0 0 1 0 1
LOC129992296, TAPT1 0 0 0 0 1 1
LOC129993690, TRIO 0 0 1 0 0 1
LOC129994526, SLC12A2 0 0 1 0 0 1
LOC129995144, THG1L 0 0 1 0 0 1
LOC129997928, RAC1 0 0 1 0 0 1
LOC130007700, PRICKLE1 0 1 0 0 0 1
LOC130059892, SERPINF1 1 0 0 0 0 1
LOC130061370, TLK2 0 0 0 1 0 1
LOC130062568, NEDD4L 0 0 1 0 0 1
LOC130066299, OSBPL2 0 0 0 0 1 1
LORICRIN 0 1 0 0 0 1
LOXL3 0 1 0 0 0 1
LPAR6, RB1 0 0 0 0 1 1
LPIN2 0 0 1 0 0 1
LRIT3 0 0 1 0 0 1
LRP2 1 0 0 0 0 1
LRP4 0 0 1 0 0 1
LRP6 0 0 1 0 0 1
LRRC51, LRTOMT 0 0 0 0 1 1
LRRK1 0 1 0 0 0 1
LRRK2 1 0 0 0 0 1
LTBP2 0 0 0 1 0 1
LY9 1 0 0 0 0 1
MALT1 0 0 0 1 0 1
MAN2B2 0 0 1 0 0 1
MAP2K2 0 0 1 0 0 1
MAPK1 0 0 1 0 0 1
MAST1 0 1 0 0 0 1
MBD5 0 0 1 0 0 1
MBTPS1 0 0 0 1 0 1
MCCC2 1 0 0 0 0 1
MCIDAS 1 0 0 0 0 1
MCOLN1 0 0 1 0 0 1
MEGF10 0 1 0 0 0 1
MEN1 1 0 0 0 0 1
MET 0 1 0 0 0 1
MID2 0 0 1 0 0 1
MLH1 0 0 0 0 1 1
MMAB 1 0 0 0 0 1
MMACHC 1 0 0 0 0 1
MMP15 1 0 0 0 0 1
MMP2 0 0 1 0 0 1
MMP9 0 0 1 0 0 1
MPDZ 0 0 1 0 0 1
MPL 0 1 0 0 0 1
MPV17 0 1 0 0 0 1
MPZL2 0 1 0 0 0 1
MRE11 0 0 1 0 0 1
MSC, TRPA1 0 0 1 0 0 1
MSRB3 0 0 1 0 0 1
MTCL1 0 0 1 0 0 1
MUC5B 0 1 0 0 0 1
MVD 1 0 0 0 0 1
MYBPC2 0 0 1 0 0 1
MYH11 0 1 0 0 0 1
MYH14 0 0 1 0 0 1
MYH7B 0 0 1 0 0 1
MYLK 0 0 1 0 0 1
MYO5A 0 0 0 1 0 1
MYO6 0 0 1 0 0 1
MYOCD 0 0 0 1 0 1
NAGA 0 1 0 0 0 1
NAGLU 1 0 0 0 0 1
NANS, TRIM14 0 0 1 0 0 1
NARS2 0 0 0 0 1 1
NBEA 0 1 0 0 0 1
NEB, RIF1 1 0 0 0 0 1
NEDD4L 0 0 1 0 0 1
NEXMIF 0 1 0 0 0 1
NFAT5 0 0 1 0 0 1
NFIB 0 1 0 0 0 1
NFKB2 0 0 1 0 0 1
NGF 1 0 0 0 0 1
NGLY1 0 0 1 0 0 1
NKX2-1, SFTA3 0 1 0 0 0 1
NKX6-2 1 0 0 0 0 1
NLRC4 0 0 0 1 0 1
NLRP2 1 0 0 0 0 1
NME3 0 0 0 1 0 1
NME8 0 0 0 1 0 1
NNT 0 0 1 0 0 1
NOTCH3 0 1 0 0 0 1
NPC2 1 0 0 0 0 1
NPHP1 0 0 0 1 0 1
NPHP4 0 0 1 0 0 1
NPHS2 0 0 0 0 1 1
NPR2 0 1 0 0 0 1
NRL 1 0 0 0 0 1
NSUN2 1 0 0 0 0 1
NTRK1 1 0 0 0 0 1
NUP93 0 0 0 1 0 1
OPA1 1 0 0 0 0 1
OPHN1 0 0 1 0 0 1
ORAI1 1 0 0 0 0 1
OTOA 1 0 0 0 0 1
OTOF 0 0 0 0 1 1
OXCT1 0 1 0 0 0 1
P3H2 0 1 0 0 0 1
PACS1 1 0 0 0 0 1
PAK3 0 1 0 0 0 1
PALB2 0 1 0 0 0 1
PANK2 0 1 0 0 0 1
PARS2 0 0 1 0 0 1
PAX3 1 0 0 0 0 1
PCCB 1 0 0 0 0 1
PCDH15 0 0 1 0 0 1
PCDH19 0 0 0 1 0 1
PCNT 0 0 0 0 1 1
PDE6A 0 1 0 0 0 1
PDHX 0 0 1 0 0 1
PDILT 0 0 1 0 0 1
PDZD7 1 0 0 0 0 1
PDZD8 1 0 0 0 0 1
PEX1 1 0 0 0 0 1
PEX12 1 0 0 0 0 1
PEX16 0 1 0 0 0 1
PEX26 0 0 0 0 1 1
PGAP3 1 0 0 0 0 1
PGK1 0 0 1 0 0 1
PGM1 0 1 0 0 0 1
PGM3 0 0 1 0 0 1
PHF21A 0 0 1 0 0 1
PHF6 0 1 0 0 0 1
PHGDH 0 1 0 0 0 1
PHKA1 0 0 1 0 0 1
PHKA2 0 0 1 0 0 1
PHKG2 0 0 1 0 0 1
PHYH 0 0 1 0 0 1
PIDD1 0 1 0 0 0 1
PIEZO1 0 0 1 0 0 1
PIGT 0 1 0 0 0 1
PIK3CA 1 0 0 0 0 1
PIK3CD 0 0 1 0 0 1
PJVK 0 1 0 0 0 1
PKD1L1 0 0 0 1 0 1
PLCB1 0 0 1 0 0 1
PLCB3 0 1 0 0 0 1
PLCE1 1 0 0 0 0 1
PLOD1 1 0 0 0 0 1
PMM2 0 0 0 1 0 1
PMS2 1 0 0 0 0 1
PNKP 0 0 0 1 0 1
POGZ 0 0 0 0 1 1
POLR3B 1 0 0 0 0 1
POMT1 1 0 0 0 0 1
PPP1R21 0 1 0 0 0 1
PQBP1 1 0 0 0 0 1
PRDM5 0 0 1 0 0 1
PRF1 0 1 0 0 0 1
PRICKLE1 0 0 1 0 0 1
PRKN 0 1 0 0 0 1
PRMT7 0 0 0 1 0 1
PRODH 0 0 0 1 0 1
PRPH2 1 0 0 0 0 1
PRSS1, TRB 1 0 0 0 0 1
PRSS8 0 0 0 0 1 1
PRX 1 0 0 0 0 1
PSAP 1 0 0 0 0 1
PSMB8 0 0 1 0 0 1
PSMD12 1 0 0 0 0 1
PTBP2 0 0 0 1 0 1
PTPN23 0 0 1 0 0 1
PTRH2 1 0 0 0 0 1
PYY 0 0 0 0 1 1
QARS1 0 1 0 0 0 1
RAB23 0 1 0 0 0 1
RAB27A 1 0 0 0 0 1
RAC2 0 0 1 0 0 1
RAD21 1 0 0 0 0 1
RAI1 0 0 1 0 0 1
RANGAP1 0 0 0 0 1 1
RARS2 0 0 0 0 1 1
RBP3 0 0 1 0 0 1
RDX 0 0 0 0 1 1
RECQL4 0 1 0 0 0 1
RFX6 0 1 0 0 0 1
RHOBTB2 0 0 1 0 0 1
RNASEH2A 0 1 0 0 0 1
RNASEH2C 1 0 0 0 0 1
RNF13 1 0 0 0 0 1
ROBO3 1 0 0 0 0 1
RORB 0 1 0 0 0 1
RP1L1 0 0 0 0 1 1
RPGRIP1 1 0 0 0 0 1
RPGRIP1L 0 1 0 0 0 1
RS1 0 1 1 0 0 1
RSPH3 0 1 0 0 0 1
RSPH4A 0 1 0 0 0 1
RSPH9 1 0 0 0 0 1
RUNX2 1 0 0 0 0 1
RYR3 0 0 1 0 0 1
S100A6 0 0 1 0 0 1
S1PR2 0 0 1 0 0 1
SACS 0 0 1 0 0 1
SALL4 0 0 0 1 0 1
SAMD11 0 0 0 1 0 1
SAMHD1, TLDC2 0 0 0 0 1 1
SATB2 1 0 0 0 0 1
SBF1 0 1 0 0 0 1
SCN10A 0 0 1 0 0 1
SCN1A 0 1 0 0 0 1
SCN1A, SCN9A 0 0 0 0 1 1
SCN4A 1 0 0 0 0 1
SCN5A 0 0 0 1 0 1
SCN8A 0 1 0 0 0 1
SCNN1A 0 1 0 0 0 1
SCNN1G 1 0 0 0 0 1
SCRIB 0 0 1 0 0 1
SDHA 0 0 0 1 0 1
SELENON 0 1 0 0 0 1
SERPINA1 0 0 0 0 1 1
SERPINA3 0 0 1 0 0 1
SERPINA6 0 0 1 0 0 1
SERPINB6 0 0 0 1 0 1
SERPINB8 1 0 0 0 0 1
SERPINC1 0 0 1 0 0 1
SERPING1 0 1 0 0 0 1
SETD2 0 0 1 0 0 1
SFTPB 0 0 1 0 0 1
SGCB 1 0 0 0 0 1
SGCD 0 1 0 0 0 1
SGSH 0 1 0 0 0 1
SH2D1A 0 1 0 0 0 1
SH3BP2 0 0 0 1 0 1
SH3PXD2B 0 0 1 0 0 1
SH3TC2 0 0 0 1 0 1
SHH 1 0 0 0 0 1
SHOC2 1 0 0 0 0 1
SHROOM3 0 0 1 0 0 1
SIGMAR1 0 0 1 0 0 1
SIL1 0 1 0 0 0 1
SIN3A 0 0 0 0 1 1
SIX1 0 0 0 1 0 1
SKIC2 1 0 0 0 0 1
SLC12A6 0 1 0 0 0 1
SLC13A5 0 0 1 0 0 1
SLC22A12 0 0 0 1 0 1
SLC22A5 1 0 0 0 0 1
SLC25A20 0 1 0 0 0 1
SLC25A24 0 0 0 0 1 1
SLC34A1 0 1 0 0 0 1
SLC38A8 1 0 0 0 0 1
SLC39A14 0 1 0 0 0 1
SLC3A1 1 0 0 0 0 1
SLC45A1 0 1 0 0 0 1
SLC5A1 0 0 1 0 0 1
SLC5A7 0 1 0 0 0 1
SLC67A1 0 0 0 0 1 1
SLC7A7 0 1 0 0 0 1
SLITRK6 0 0 1 0 0 1
SLURP1 0 1 0 0 0 1
SMAD4 1 0 0 0 0 1
SMAD7 0 0 1 0 0 1
SMARCA1 0 0 1 0 0 1
SMARCA4 0 0 1 0 0 1
SMARCB1 1 0 0 0 0 1
SMC1A 0 1 0 0 0 1
SMCHD1 0 0 1 0 0 1
SNX14 1 0 0 0 0 1
SOAT2 0 0 1 0 0 1
SOHLH1 0 0 0 0 1 1
SON 0 0 1 0 0 1
SOS1 0 1 0 0 0 1
SPAG1 0 0 1 0 0 1
SPAG17 0 0 0 1 0 1
SPATA7 1 0 0 0 0 1
SPINT2 0 1 0 0 0 1
SPRY1 0 0 0 0 1 1
SPTA1 1 0 0 0 0 1
SPTB 1 0 0 0 0 1
SQSTM1 1 0 0 0 0 1
SRA1 0 0 0 1 0 1
SRCAP 1 0 0 0 0 1
ST14 0 1 0 0 0 1
ST3GAL3 0 0 1 0 0 1
STAC3 1 0 0 0 0 1
STAT1 1 0 0 0 0 1
STAT3 1 0 0 0 0 1
STAT5B 1 0 0 0 0 1
STIL 0 0 1 0 0 1
STRC 0 0 0 1 0 1
STX1B 1 0 0 0 0 1
STXBP3 0 0 0 1 0 1
SUOX 1 0 0 0 0 1
SVBP 1 0 0 0 0 1
SYN1 1 0 0 0 0 1
TANC2 0 1 0 0 0 1
TAOK1 1 0 0 0 0 1
TBCEL-TECTA, TECTA 0 0 0 1 0 1
TBCK 0 0 1 0 0 1
TBK1 0 1 0 0 0 1
TBL1XR1 1 0 0 0 0 1
TCF12 0 0 0 1 0 1
TCN2 1 0 0 0 0 1
TDRD9 0 0 1 0 0 1
TENT5A 0 0 0 0 1 1
TERT 0 0 1 0 0 1
TEX14 0 0 1 0 0 1
TFE3 1 0 0 0 0 1
TGFBR2 0 1 0 0 0 1
TINF2 0 0 0 0 1 1
TK2 0 1 0 0 0 1
TLK2 1 0 0 0 0 1
TLR3 1 0 0 0 0 1
TLR4 0 1 0 0 0 1
TMEM240 0 0 1 0 0 1
TMEM94 0 1 0 0 0 1
TMPRSS6 0 0 1 0 0 1
TNFAIP3 0 0 1 0 0 1
TNFRSF1A 1 0 0 0 0 1
TNNT1 0 0 0 1 0 1
TNXB 0 0 1 0 0 1
TOM1 0 0 1 0 0 1
TOR1AIP1 0 0 0 0 1 1
TPI1 1 0 0 0 0 1
TPM2 1 0 0 0 0 1
TPO 0 0 0 0 1 1
TRAF3 1 0 0 0 0 1
TRAPPC12 0 0 1 0 0 1
TRAPPC2 0 1 0 0 0 1
TRIM69 1 0 0 0 0 1
TRIP12 1 0 0 0 0 1
TRPM1 0 1 1 0 0 1
TRPM6 0 1 0 0 0 1
TRPM7 0 0 0 0 1 1
TSC1 0 0 1 0 0 1
TSPEAR 0 0 0 1 0 1
TTC21B 0 0 1 0 0 1
TTC7A 0 0 0 1 0 1
TTI1 0 0 0 1 0 1
TTR 1 0 0 0 0 1
TUBB2B 0 0 1 0 0 1
TUBB4A 1 0 0 0 0 1
TXNRD2 0 0 1 0 0 1
UBQLN4 0 0 1 0 0 1
UGP2 1 0 0 0 0 1
UNC45B 0 0 0 0 1 1
UNG 0 0 1 0 0 1
UPB1 0 0 1 0 0 1
UROC1 0 1 0 0 0 1
USP7 0 1 0 0 0 1
USP9X 0 0 0 0 1 1
VANGL1 0 0 1 0 0 1
VARS2 0 0 0 1 0 1
VCAN 0 0 0 0 1 1
VCP 0 0 0 0 1 1
VIPAS39 0 0 0 1 0 1
VLDLR 1 0 0 0 0 1
VPS11 0 0 0 0 1 1
VPS26C 0 1 0 0 0 1
WAC 1 0 0 0 0 1
WAS 0 1 0 0 0 1
WASHC4 1 0 0 0 0 1
WDR45 1 0 0 0 0 1
WDR45B 1 0 0 0 0 1
WFS1 0 0 1 0 0 1
WHRN 0 0 1 0 0 1
XPA 0 1 0 0 0 1
ZBTB18 0 0 0 1 0 1
ZEB2 1 0 0 0 0 1
ZFYVE27 0 0 1 0 0 1
ZIC5 0 0 1 0 0 1
ZMPSTE24 1 0 0 0 0 1
ZNF292 0 0 1 0 0 1
ZNF335 0 0 1 0 0 1
ZNF462 0 0 1 0 0 1
ZNF469 0 0 1 0 0 1
ZNF668 0 1 0 0 0 1
ZNF699 1 0 0 0 0 1
ZPBP 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 703
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 8 6 108 81 109 312
not provided 55 20 138 0 0 213
Café-au-lait macules with pulmonary stenosis 16 9 0 0 0 25
Multisystem inflammatory syndrome in children 24 0 0 0 0 24
Susceptibility to severe COVID-19 0 23 0 0 0 23
Intellectual disability 14 7 0 0 0 21
Deafness 10 7 0 0 0 17
Retinal dystrophy 7 7 0 0 0 14
Epilepsy 7 6 0 0 0 13
Familial Mediterranean fever, autosomal dominant 6 1 3 0 1 11
Cystic fibrosis 8 1 0 0 0 9
Biotinidase deficiency 3 5 0 0 0 8
Polycystic kidney disease 4 2 1 3 1 0 7
Polycystic kidney disease, adult type 5 2 0 0 0 7
Branchial cleft anomaly 6 0 0 0 0 6
Hyperphenylalaninemia 6 0 0 0 0 6
Lymphangiomyomatosis 6 0 0 0 0 6
Primary ciliary dyskinesia 4 2 0 0 0 6
Achromatopsia 2 4 1 0 0 0 5
Aicardi-Goutieres syndrome 7 0 0 4 1 0 5
Autosomal recessive nonsyndromic hearing loss 28 0 0 3 1 1 5
Charcot-Marie-Tooth disease 2 3 0 0 0 5
Chédiak-Higashi syndrome 1 1 1 1 1 5
Coffin-Siris syndrome 1 3 1 0 1 0 5
Glycogen storage disease, type II 3 2 0 0 0 5
Ichthyosis 0 5 0 0 0 5
Microcephaly 2 3 0 0 0 5
Muscular dystrophy 3 2 0 0 0 5
Niemann-Pick disease, type C1 0 0 1 1 3 5
Rett syndrome 4 1 0 0 0 5
Deficiency of iodide peroxidase 2 0 0 1 1 4
Developmental and epileptic encephalopathy, 7 4 0 0 0 0 4
Familial hypokalemia-hypomagnesemia 2 1 1 0 0 4
GM1 gangliosidosis 1 3 0 0 0 4
Hereditary spastic paraplegia 15 0 0 3 0 1 4
Hypogonadotropic hypogonadism 5 with or without anosmia 1 3 0 0 0 4
Isovaleryl-CoA dehydrogenase deficiency 1 3 0 0 0 4
Leber congenital amaurosis 10 4 0 0 0 0 4
Leukodystrophy 2 2 0 0 0 4
Muenke syndrome 4 0 0 0 0 4
Nemaline myopathy 2 0 0 1 2 1 4
Osteogenesis imperfecta 3 1 0 0 0 4
Perrault syndrome 4 0 0 2 1 1 4
Pyridoxal phosphate-responsive seizures 2 1 1 0 0 4
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 2 0 1 0 0 3
3M syndrome 1 1 2 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 0 2 1 3
Autosomal recessive nonsyndromic hearing loss 3 0 0 3 0 0 3
Autosomal recessive nonsyndromic hearing loss 77 0 0 3 0 0 3
Autosomal recessive nonsyndromic hearing loss 98 0 0 0 3 0 3
Cardiomyopathy 2 1 0 0 0 3
Congenital hyperammonemia, type I 0 1 2 0 0 3
Congenital stationary night blindness 1E 0 0 2 1 0 3
Deficiency of alpha-mannosidase 0 3 0 0 0 3
Developmental and epileptic encephalopathy, 27 1 1 1 0 0 3
Epidermolysis bullosa 1 2 0 0 0 3
Familial Mediterranean fever 2 1 0 0 0 3
Geleophysic dysplasia 2 2 1 0 0 0 3
Glioma 2 1 0 0 0 3
Hereditary palmoplantar keratoderma 3 0 0 0 0 3
Hereditary von Willebrand disease 1 2 0 0 0 3
Immunodeficiency 95 2 1 0 0 0 3
Inflammatory bowel disease 1 0 0 1 1 1 3
Joubert syndrome 1 1 2 0 0 0 3
Joubert syndrome 21 0 1 0 0 2 3
KBG syndrome 3 0 0 0 0 3
Kleefstra syndrome 2 0 1 2 0 0 3
L-2-hydroxyglutaric aciduria 0 0 2 0 1 3
Leber congenital amaurosis 8 1 2 0 0 0 3
Macular dystrophy 1 2 0 0 0 3
Methylmalonic aciduria 3 0 0 0 0 3
Mitochondrial DNA depletion syndrome 13 1 1 1 0 0 3
Mucopolysaccharidosis type 6 1 0 2 0 0 3
Neurodevelopmental disorder 1 2 0 0 0 3
Obesity 1 2 0 0 0 3
Propionic acidemia 2 1 0 0 0 3
Retinitis pigmentosa 25 0 1 0 1 1 3
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 2 0 3
Sotos syndrome 3 0 0 0 0 3
Spherocytosis 3 0 0 0 0 3
Thyroid dyshormonogenesis 6 0 0 3 0 0 3
Achromatopsia 3 0 2 0 0 0 2
Alagille syndrome due to a NOTCH2 point mutation 0 0 0 2 0 2
Alkuraya-Kucinskas syndrome 0 0 2 0 0 2
Angelman syndrome 1 1 0 0 0 2
Arrhythmogenic right ventricular dysplasia 11 0 0 1 0 1 2
Arthrogryposis 1 1 0 0 0 2
Asphyxiating thoracic dystrophy 3 0 1 1 0 0 2
Ataxia-telangiectasia syndrome 1 0 0 0 1 2
Autosomal recessive Robinow syndrome 0 0 1 1 0 2
Autosomal recessive ataxia due to ubiquinone deficiency 0 0 0 1 1 2
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 0 0 0 2 2
Autosomal recessive limb-girdle muscular dystrophy type R18 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 1A 2 0 0 0 0 2
Baraitser-Winter syndrome 1 0 2 0 0 0 2
Bartter syndrome 1 1 0 0 0 2
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2 0 0 0 0 2
Cleft palate 1 1 0 0 0 2
Cohen syndrome 0 1 0 1 0 2
Combined immunodeficiency due to DOCK8 deficiency 1 0 0 0 1 2
Combined immunodeficiency due to LRBA deficiency 0 0 0 2 0 2
Combined oxidative phosphorylation defect type 23 0 2 0 0 0 2
Cone dystrophy with supernormal rod response 2 0 0 0 0 2
Congenital bile acid synthesis defect 1 1 0 0 0 2
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 1 0 0 0 2
Congenital microvillous atrophy 1 1 0 0 0 2
Congenital multicore myopathy with external ophthalmoplegia 1 1 0 0 0 2
Congenital secretory diarrhea, chloride type 2 0 0 0 0 2
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 0 0 0 2 2
Cystinosis 2 0 0 0 0 2
Developmental and epileptic encephalopathy 6B 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 4 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 9 1 0 0 1 0 2
Developmental delay 1 1 0 0 0 2
Dimethylglycine dehydrogenase deficiency 0 0 2 0 0 2
Ehlers-Danlos syndrome, musculocontractural type 2 0 0 1 0 1 2
Ellis-van Creveld syndrome 0 1 0 0 1 2
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 0 0 0 2 0 2
Epilepsy, familial focal, with variable foci 1 0 0 1 1 0 2
Epilepsy, progressive myoclonic, 1B 0 1 1 0 0 2
Esophageal squamous cell carcinoma 2 0 0 0 0 2
Ethylmalonic encephalopathy 1 0 1 0 0 2
Fabry disease 0 1 0 0 1 2
Familial cold autoinflammatory syndrome 2 1 0 1 0 0 2
Fanconi anemia complementation group P 0 0 0 1 1 2
Fetal akinesia deformation sequence 3 1 1 0 0 0 2
Finnish congenital nephrotic syndrome 0 1 0 0 1 2
Galactosemia 2 0 0 0 0 2
Gilbert syndrome 1 0 1 0 0 2
Glanzmann thrombasthenia 2 0 2 0 0 0 2
Glutaric acidemia IIc 1 1 0 0 0 2
Glycine encephalopathy 0 2 0 0 0 2
Glycogen storage disease, type V 0 1 1 0 0 2
Hereditary spastic paraplegia 4 1 1 0 0 0 2
Hereditary spastic paraplegia 9A 1 0 1 0 0 2
Hypertrophic cardiomyopathy 4 0 1 1 0 0 2
Immunodeficiency 14 0 0 2 0 0 2
Joubert syndrome 16 0 2 0 0 0 2
Joubert syndrome 25 0 0 2 0 0 2
Joubert syndrome 9 1 0 1 0 0 2
Junctional epidermolysis bullosa, non-Herlitz type 1 0 0 0 1 2
Kahrizi syndrome 2 0 0 0 0 2
Kleefstra syndrome 1 2 0 0 0 0 2
Knobloch syndrome 1 1 0 0 0 2
Lamb-Shaffer syndrome 2 0 0 0 0 2
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 1 0 1 0 2
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 0 0 1 1 0 2
Loeys-Dietz syndrome 4 0 0 0 0 2 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 2 0 0 0 0 2
Meier-Gorlin syndrome 1 0 0 1 0 1 2
Melanoma 2 0 0 0 0 2
Metachromatic leukodystrophy 2 0 0 0 0 2
Microcephaly 5, primary, autosomal recessive 1 1 0 0 0 2
Mucopolysaccharidosis, MPS-II 0 0 0 0 2 2
Mucopolysaccharidosis, MPS-IV-A 1 0 0 0 1 2
Multiple sulfatase deficiency 1 1 0 0 0 2
Muscle AMP deaminase deficiency 0 0 0 0 2 2
Myopia 28, autosomal recessive 1 1 0 0 0 2
Nephrotic syndrome 0 2 0 0 0 2
Netherton syndrome 2 0 0 0 0 2
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 2 0 0 0 2
Neurodevelopmental disorder with hypotonia 0 2 0 0 0 2
Neurodevelopmental disorder with poor growth and behavioral abnormalities 0 2 0 0 0 2
Noonan syndrome 1 1 1 0 0 0 2
Noonan syndrome 8 2 0 0 0 0 2
Oculopharyngeal myopathy with leukoencephalopathy 1 0 0 0 0 2 2
Osteopetrosis 1 1 0 0 0 2
Periventricular nodular heterotopia 7 0 0 2 0 0 2
Peroxisome biogenesis disorder 4B 1 1 0 0 0 2
Perrault syndrome 1 0 0 2 0 0 2
Pitt-Hopkins syndrome 1 1 0 0 0 2
Platelet-type bleeding disorder 10 2 0 0 0 0 2
Polyglandular autoimmune syndrome, type 1 0 1 1 0 0 2
Primary ciliary dyskinesia 3 1 0 0 0 1 2
Primary ciliary dyskinesia 5 0 0 0 1 1 2
Primary ciliary dyskinesia 7 0 0 0 1 1 2
Progressive familial intrahepatic cholestasis type 2 0 0 2 0 0 2
Pseudo-TORCH syndrome 1 1 1 0 0 0 2
Psoriasis 15, pustular, susceptibility to 0 0 0 1 1 2
Pyruvate dehydrogenase E1-alpha deficiency 2 0 0 0 0 2
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 0 1 1 0 0 2
Renal cell carcinoma 1 1 0 0 0 2
Renal hypomagnesemia 5 with ocular involvement 0 2 0 0 0 2
Retinitis pigmentosa 12 0 1 1 0 0 2
Retinitis pigmentosa 20 1 1 0 0 0 2
Retinitis pigmentosa 37 1 1 0 0 0 2
Retinitis pigmentosa 38 1 1 0 0 0 2
Retinitis pigmentosa 54 0 1 1 0 0 2
Retinitis pigmentosa 75 0 1 1 0 0 2
Retinoschisis 1 1 0 0 0 2
Simpson-Golabi-Behmel syndrome 1 1 0 0 0 2
Sphingomyelin/cholesterol lipidosis 1 1 0 0 0 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 0 0 2 0 2
Spondyloepiphyseal dysplasia 1 1 0 0 0 2
Thrombophilia 3 due to protein C deficiency 0 2 0 0 0 2
Trichohepatoenteric syndrome 1 0 0 1 0 1 2
Troyer syndrome 0 1 1 0 0 2
Tyrosinemia 2 0 0 0 0 2
Usher syndrome type 2A 0 0 0 2 0 2
Usher syndrome type 2C 0 0 2 0 0 2
Vibratory urticaria 0 0 2 0 0 2
Vici syndrome 0 2 0 0 0 2
Wiedemann-Steiner syndrome 0 2 0 0 0 2
Wolcott-Rallison dysplasia 0 2 0 0 0 2
Xeroderma pigmentosum 0 2 0 0 0 2
3-Methylglutaconic aciduria 0 1 0 0 0 1
3-Methylglutaconic aciduria type 3 1 0 0 0 0 1
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 0 0 0 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 0 1 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 0 1 0 0 1
ALG9 congenital disorder of glycosylation 0 0 1 0 0 1
Achromatopsia 4 1 0 0 0 0 1
Acroerythrokeratoderma 0 1 0 0 0 1
Acromesomelic dysplasia 1, Maroteaux type 0 1 0 0 0 1
Adams-Oliver syndrome 2 0 1 0 0 0 1
Agenesis of the corpus callosum with peripheral neuropathy 0 1 0 0 0 1
Aicardi-Goutieres syndrome 3 1 0 0 0 0 1
Aicardi-Goutieres syndrome 4 0 1 0 0 0 1
Al Kaissi syndrome 1 0 0 0 0 1
Alkaptonuria 1 0 0 0 0 1
Alpha-1-antitrypsin deficiency 0 0 0 0 1 1
Alpha-N-acetylgalactosaminidase deficiency type 1 0 1 0 0 0 1
Alpha-thalassemia/intellectual disability syndrome 0 1 0 0 0 1
Alstrom syndrome 1 0 0 0 0 1
Alternating hemiplegia of childhood 2 1 0 0 0 0 1
Amyloidosis 1 0 0 0 0 1
Anemia 1 0 0 0 0 1
Angioedema 0 1 0 0 0 1
Anterior segment dysgenesis 1 0 0 1 0 0 1
Apparent mineralocorticoid excess 0 1 0 0 0 1
Argininosuccinate lyase deficiency 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 13 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 9 0 1 0 0 0 1
Arthrogryposis, renal dysfunction, and cholestasis 2 0 0 0 1 0 1
Aspartylglucosaminuria 0 1 0 0 0 1
Ataxia-telangiectasia-like disorder 1 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with C3 anomaly 0 0 1 0 0 1
Autoimmune connective tissue disease and vasculitis 0 0 1 0 0 1
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 1 0 0 0 0 1
Autoinflammatory syndrome, familial, Behcet-like 0 0 1 0 0 1
Autosomal dominant Parkinson disease 8 1 0 0 0 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 0 0 1 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 1 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 1 0 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 12 0 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 23 0 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 4A 0 0 1 0 0 1
Autosomal dominant omodysplasia 1 0 0 0 0 1
Autosomal dominant optic atrophy classic form 1 0 0 0 0 1
Autosomal recessive ataxia, Beauce type 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 2 0 0 1 0 0 1
Autosomal recessive inherited pseudoxanthoma elasticum 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2E 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2Y 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 102 0 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 15 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 16 0 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 22 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 24 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 29 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 42 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 63 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 68 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 74 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 9 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 91 0 0 0 1 0 1
Autosomal recessive spastic paraplegia type 78 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 12 0 0 1 0 0 1
Autosomal systemic lupus erythematosus type 16 1 0 0 0 0 1
Bailey-Bloch congenital myopathy 1 0 0 0 0 1
Baller-Gerold syndrome 0 1 0 0 0 1
Bamforth-Lazarus syndrome 0 0 1 0 0 1
Bardet-Biedl syndrome 12 0 1 0 0 0 1
Becker muscular dystrophy 1 0 0 0 0 1
Bethlem myopathy 1A 0 1 0 0 0 1
Bietti crystalline corneoretinal dystrophy 0 0 0 1 0 1
Bifunctional peroxisomal enzyme deficiency 0 1 0 0 0 1
Blepharophimosis 1 0 0 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 0 0 1
Borjeson-Forssman-Lehmann syndrome 0 1 0 0 0 1
Brain-lung-thyroid syndrome 0 1 0 0 0 1
Branchiooculofacial syndrome 0 0 1 0 0 1
Branchiootorenal syndrome 1 0 0 1 0 0 1
Brittle cornea syndrome 1 0 0 1 0 0 1
Brittle cornea syndrome 2 0 0 1 0 0 1
Bronchiectasis with or without elevated sweat chloride 3 1 0 0 0 0 1
Brugada syndrome 3 0 0 1 0 0 1
CFHR5 deficiency 0 0 1 0 0 1
CLOVES syndrome 1 0 0 0 0 1
COACH syndrome 2 0 1 0 0 0 1
Candidiasis, familial, 9 0 0 0 1 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 0 0 0 1
Carnitine acylcarnitine translocase deficiency 0 1 0 0 0 1
Carnitine deficiency 1 0 0 0 0 1
Carpenter syndrome 0 1 0 0 0 1
Cataract 17 multiple types 0 0 0 1 0 1
Cataract 33 0 0 1 0 0 1
Cerebellar ataxia 0 1 0 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0 0 1 0 0 1
Cerebellar hypoplasia 1 0 0 0 0 1
Cerebral palsy 1 0 0 0 0 1
Cerebrooculofacioskeletal syndrome 4 0 0 0 0 1 1
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 0 0 0 1 0 1
Charcot-Marie-Tooth disease type 4B3 0 1 0 0 0 1
Charlevoix-Saguenay spastic ataxia 0 0 1 0 0 1
Chitotriosidase deficiency 0 0 0 0 1 1
Chromosome 2q32-q33 deletion syndrome 1 0 0 0 0 1
Chronic myeloid leukemia 0 0 1 0 0 1
Ciliary dyskinesia, primary, 37 0 0 0 1 0 1
Citrullinemia 1 0 0 0 0 1
Coffin-Siris syndrome 1 0 0 0 0 1
Coffin-Siris syndrome 6 0 0 1 0 0 1
Colorectal cancer 0 1 0 0 0 1
Colorectal cancer, susceptibility to, 10 0 0 1 0 0 1
Combined PSAP deficiency 1 0 0 0 0 1
Combined immunodeficiency 0 1 0 0 0 1
Combined immunodeficiency due to MALT1 deficiency 0 0 0 1 0 1
Combined immunodeficiency due to ORAI1 deficiency 1 0 0 0 0 1
Complement component 4b deficiency 1 0 0 0 0 1
Complement component 9 deficiency 0 1 0 0 0 1
Complex lethal osteochondrodysplasia 0 0 0 0 1 1
Cone-rod dystrophy 13 1 0 0 0 0 1
Cone-rod dystrophy 15 0 0 1 0 0 1
Congenital bile acid synthesis defect 6 0 0 0 1 0 1
Congenital diarrhea 7 with exudative enteropathy 0 1 0 0 0 1
Congenital disorder of deglycosylation 0 0 1 0 0 1
Congenital disorder of glycosylation 0 1 0 0 0 1
Congenital heart defects, multiple types, 6 0 1 0 0 0 1
Congenital muscular dystrophy due to integrin alpha-7 deficiency 0 0 0 0 1 1
Congenital muscular hypertrophy-cerebral syndrome 0 1 0 0 0 1
Congenital myasthenic syndrome 2C 1 0 0 0 0 1
Congenital myopathy 11 0 1 0 0 0 1
Congenital myopathy with fiber type disproportion 0 1 0 0 0 1
Congenital stationary night blindness 1C 0 0 1 0 0 1
Congenital stationary night blindness 1F 0 0 1 0 0 1
Congenital stationary night blindness autosomal dominant 3 0 0 1 0 0 1
Conjugate gaze palsy 1 0 0 0 0 1
Convulsions 1 0 0 0 0 1
Cornelia de Lange syndrome 4 1 0 0 0 0 1
Cortical dysplasia 0 1 0 0 0 1
Corticosteroid-binding globulin deficiency 0 0 1 0 0 1
Crigler-Najjar syndrome 1 0 0 0 0 1
Crigler-Najjar syndrome type 1 1 0 0 0 0 1
Cystinuria 1 0 0 0 0 1
DEGCAGS syndrome 1 0 0 0 0 1
DOCK2 deficiency 0 0 1 0 0 1
Dalmatian hypouricemia 0 0 0 1 0 1
DeSanto-Shinawi syndrome 1 0 0 0 0 1
Deficiency of acetyl-CoA acetyltransferase 0 1 0 0 0 1
Deficiency of beta-ureidopropionase 0 0 1 0 0 1
Deficiency of butyrylcholinesterase 1 0 0 0 0 1
Deficiency of fructose-bisphosphatase 0 1 0 0 0 1
Deficiency of guanidinoacetate methyltransferase 0 1 0 0 0 1
Deficiency of steroid 17-alpha-monooxygenase 1 0 0 0 0 1
Deficiency of transaldolase 1 0 0 0 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 0 1 0 0 1
Desbuquois dysplasia 1 0 1 0 0 0 1
Desbuquois dysplasia 2 0 1 0 0 0 1
Developmental and epileptic encephalopathy 92 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 12 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 15 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 17 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 2 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 25 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 36 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 42 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 47 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 62 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 73 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 8 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 83 1 0 0 0 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 1 0 0 0 0 1
Developmental disorder 1 0 0 0 0 1
Developmental dysplasia of the hip 0 1 0 0 0 1
Diabetes 1 0 0 0 0 1
Diabetes insipidus 1 0 0 0 0 1
Diabetes mellitus 1 0 0 0 0 1
Diarrhea 1 0 0 0 0 1
Dias-Logan syndrome 0 1 0 0 0 1
Donnai-Barrow syndrome 1 0 0 0 0 1
Duane-radial ray syndrome 0 0 0 1 0 1
Dyskeratosis congenita, X-linked 0 0 1 0 0 1
EAST syndrome 0 0 1 0 0 1
Early-onset Parkinson disease 20 0 1 0 0 0 1
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant 0 1 0 0 0 1
Ectopia lentis et pupillae 0 0 0 1 0 1
Ehlers-Danlos syndrome 1 0 0 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 1 0 0 1
Ehlers-Danlos syndrome, classic type, 1 0 0 0 0 1 1
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 0 0 1 0 1
Elliptocytosis 2 1 0 0 0 0 1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 1 0 0 0 0 1
Epidermolysis bullosa simplex 5C, with pyloric atresia 0 0 0 1 0 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 1 0 0 0 0 1
Epiphyseal dysplasia 0 1 0 0 0 1
Exostoses 1 0 0 0 0 1
Exudative vitreoretinopathy 7 0 1 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 0 1 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 3 0 0 1 0 0 1
Familial infantile myasthenia 0 0 1 0 0 1
Familial retinal arterial macroaneurysm 0 1 0 0 0 1
Familial visceral amyloidosis, Ostertag type 0 0 1 0 0 1
Fanconi anemia 1 0 0 0 0 1
Fanconi anemia complementation group A 0 0 1 0 0 1
Fanconi anemia complementation group C 1 0 0 0 0 1
Fanconi renotubular syndrome 2 0 1 0 0 0 1
Fibrous dysplasia of jaw 0 0 0 1 0 1
Focal segmental glomerulosclerosis 4, susceptibility to 0 0 1 0 0 1
Focal segmental glomerulosclerosis 6 0 0 0 1 0 1
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 1 0 0 0 0 1
Frank-Ter Haar syndrome 0 0 1 0 0 1
Fucosidosis 0 1 0 0 0 1
GNE myopathy 0 1 0 0 0 1
GRACILE syndrome 1 0 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 1 0 0 0 1
Generalized dominant dystrophic epidermolysis bullosa 0 1 0 0 0 1
Generalized epilepsy 1 0 0 0 0 1
Glaucoma 3A 0 1 0 0 0 1
Glomerular sclerosis 1 0 0 0 0 1
Glomerulopathy with fibronectin deposits 2 0 0 0 0 1 1
Glycogen storage disease IXa1 0 0 1 0 0 1
Glycogen storage disease IXc 0 0 1 0 0 1
Glycogen storage disease IXd 0 0 1 0 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 1 0 0 1
Griscelli syndrome type 1 0 0 0 1 0 1
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 1 0 0 0 0 1
Hao-Fountain syndrome 0 1 0 0 0 1
Harel-Yoon syndrome 0 0 1 0 0 1
Hb SS disease 1 0 0 0 0 1
Hearing loss, X-linked 6 0 0 0 0 1 1
Hearing loss, autosomal recessive 111 0 1 0 0 0 1
Heart, malformation of 0 1 0 0 0 1
Hemolytic anemia due to glucophosphate isomerase deficiency 0 0 1 0 0 1
Hereditary antithrombin deficiency 0 0 1 0 0 1
Hereditary spastic paraplegia 11 0 0 1 0 0 1
Hereditary spastic paraplegia 47 0 0 1 0 0 1
Hereditary spastic paraplegia 63 0 1 0 0 0 1
Hermansky-Pudlak syndrome 3 1 0 0 0 0 1
Hermansky-Pudlak syndrome 4 0 0 0 0 1 1
Heterotaxy, visceral, 8, autosomal 0 0 0 1 0 1
Heterotopia, periventricular, X-linked dominant 0 0 1 0 0 1
High myopia-sensorineural deafness syndrome 0 0 1 0 0 1
Holoprosencephaly 3 1 0 0 0 0 1
Huntington disease 0 0 1 0 0 1
Hyaline fibromatosis syndrome 1 0 0 0 0 1
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 0 1 0 0 1
Hyper-IgE syndrome 1 0 0 0 0 1
Hyper-IgM syndrome type 5 0 0 1 0 0 1
Hypercholesterolemia, familial, 1 0 1 0 0 0 1
Hyperimmunoglobulin D with periodic fever 0 1 0 0 0 1
Hyperlipoproteinemia, type 1D 0 0 1 0 0 1
Hyperostosis cranialis interna 0 1 0 0 0 1
Hyperoxaluria 1 0 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 1 0 0 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 1 0 0 0 0 1
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 1 0 0 0 0 1
Hypomyelinating leukodystrophy 12 0 0 0 0 1 1
Hypomyelinating leukodystrophy 9 0 0 0 1 0 1
Hypoparathyroidism, deafness, renal disease syndrome 0 1 0 0 0 1
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0 1 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 0 1 0 0 1
Hypotrichosis 1 0 0 0 0 1
IMAGe syndrome 1 0 0 0 0 1
Immunodeficiency 1 0 0 0 0 1
Immunodeficiency 25 0 0 1 0 0 1
Immunodeficiency 39 0 0 1 0 0 1
Immunodeficiency 72 with autoinflammation 0 1 0 0 0 1
Immunodeficiency, common variable, 2 0 0 1 0 0 1
Inflammatory skin and bowel disease, neonatal, 1 0 0 0 1 0 1
Intellectual developmental disorder with autism and dysmorphic facies 1 0 0 0 0 1
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 1 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 1 0 0 0 0 1
Intellectual developmental disorder with neuropsychiatric features 0 1 0 0 0 1
Intellectual disability, X-linked 101 0 0 1 0 0 1
Intellectual disability, autosomal dominant 11 0 0 1 0 0 1
Intellectual disability, autosomal dominant 16 0 0 1 0 0 1
Intellectual disability, autosomal dominant 22 0 0 0 1 0 1
Intellectual disability, autosomal dominant 45 0 0 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 1 0 0 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 0 0 0 1 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 1 0 0 0 1
Intestinal hypomagnesemia 1 0 1 0 0 0 1
Iron-refractory iron deficiency anemia 0 0 1 0 0 1
Joubert syndrome 23 0 0 0 0 1 1
Joubert syndrome 31 0 0 0 0 1 1
Joubert syndrome 7 0 1 0 0 0 1
Juvenile retinoschisis 0 0 1 0 0 1
Kindler syndrome 0 0 0 1 0 1
Koolen-de Vries syndrome 0 0 1 0 0 1
Larsen syndrome 0 1 0 0 0 1
Larsen-like syndrome, B3GAT3 type 1 0 0 0 0 1
Lateral meningocele syndrome 0 1 0 0 0 1
Leber congenital amaurosis 3 1 0 0 0 0 1
Leber congenital amaurosis 5 0 1 0 0 0 1
Leber congenital amaurosis 6 1 0 0 0 0 1
Leukocyte adhesion deficiency 1 0 0 0 0 1
Lipodystrophy 0 1 0 0 0 1
Lissencephaly 9 with complex brainstem malformation 0 0 1 0 0 1
Loeys-Dietz syndrome 2 0 1 0 0 0 1
Long QT syndrome 11 0 0 0 1 0 1
Loricrin keratoderma 0 1 0 0 0 1
Lung adenocarcinoma 0 1 0 0 0 1
Lymphatic malformation 6 0 0 0 0 1 1
Lymphoproliferative disorder 0 1 0 0 0 1
Lysinuric protein intolerance 0 1 0 0 0 1
Lysosomal acid lipase deficiency 0 0 0 0 1 1
MEGF10-related myopathy 0 1 0 0 0 1
Macrocephaly 0 1 0 0 0 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 0 1 0 0 1
Majeed syndrome 0 0 1 0 0 1
Malignant tumor of breast 0 1 0 0 0 1
Malignant tumor of pancreas 1 0 0 0 0 1
Mandibular hypoplasia-deafness-progeroid syndrome 1 0 0 0 0 1
Mandibuloacral dysplasia 0 1 0 0 0 1
Mandibuloacral dysplasia with type B lipodystrophy 1 0 0 0 0 1
Maple syrup urine disease 0 1 0 0 0 1
Marinesco-Sjögren syndrome 0 1 0 0 0 1
Maturity-onset diabetes of the young 1 0 0 0 0 1
Maturity-onset diabetes of the young type 2 0 1 0 0 0 1
Maturity-onset diabetes of the young type 8 1 0 0 0 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 1 0 0 0 1
Megabladder, congenital 0 0 0 1 0 1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 1 0 0 0 1
Menke-Hennekam syndrome 1 0 1 0 0 0 1
Metaphyseal anadysplasia 2 0 0 1 0 0 1
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 1 0 0 0 0 1
Methylmalonic aciduria and homocystinuria 1 0 0 0 0 1
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 0 1 0 0 1
Microcephalic primordial dwarfism, Alazami type 0 1 0 0 0 1
Microcephaly 17, primary, autosomal recessive 0 1 0 0 0 1
Microcephaly 20, primary, autosomal recessive 0 1 0 0 0 1
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 0 1 0 0 1
Micrognathia 1 0 0 0 0 1
Microphthalmia 0 1 0 0 0 1
Miller syndrome 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 2, myopathic form 0 1 0 0 0 1
Mowat-Wilson syndrome 1 0 0 0 0 1
Mucolipidosis type IV 0 0 1 0 0 1
Mucopolysaccharidosis, MPS-III-A 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-III-C 1 0 0 0 0 1
Multicentric osteolysis nodulosis arthropathy spectrum 0 0 1 0 0 1
Multiple congenital exostosis 1 0 0 0 0 1
Multiple endocrine neoplasia, type 1 1 0 0 0 0 1
Multiple gastrointestinal atresias 0 0 0 1 0 1
Multiple mitochondrial dysfunctions syndrome 3 0 1 0 0 0 1
Multiple pterygium syndrome 0 1 0 0 0 1
Multiple sclerosis 1 0 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 0 1 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy type B5 0 0 1 0 0 1
Myoclonus 0 1 0 0 0 1
Myofibrillar myopathy 4 0 0 1 0 0 1
Myopia 0 1 0 0 0 1
Nemaline myopathy 5 0 0 0 1 0 1
Nephronophthisis 11 1 0 0 0 0 1
Nephronophthisis 12 0 0 1 0 0 1
Nephronophthisis 15 0 0 1 0 0 1
Nephropathic cystinosis 0 0 1 0 0 1
Nephrotic syndrome, type 12 0 0 0 1 0 1
Nephrotic syndrome, type 2 0 0 0 0 1 1
Nephrotic syndrome, type 9 0 0 0 0 1 1
Neu-Laxova syndrome 1 0 1 0 0 0 1
Neurodegeneration with ataxia 1 0 0 0 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 0 1
Neurodevelopmental disorder with ataxia 1 0 0 0 0 1
Neurodevelopmental disorder with brain abnormalities 1 0 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 0 0 1 1
Neurodevelopmental disorder with dysmorphic facies and variable seizures 1 0 0 0 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 0 0 0 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 1 0 0 0 1
Neurodevelopmental disorder with poor growth 0 1 0 0 0 1
Neurodevelopmental disorder with seizures and brain atrophy 1 0 0 0 0 1
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 1 0 0 0 0 1
Neurofibromatosis, type 1 1 0 0 0 0 1
Neuronopathy, distal hereditary motor, type 7A 0 1 0 0 0 1
Neutrophil immunodeficiency syndrome 0 0 1 0 0 1
Night blindness 0 1 0 0 0 1
Noonan syndrome 4 0 1 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 0 0 1
O'Donnell-Luria-Rodan syndrome 0 1 0 0 0 1
Obesity due to CEP19 deficiency 0 0 0 0 1 1
Occult macular dystrophy 0 0 0 0 1 1
Odontohypophosphatasia 1 0 0 0 0 1
Okur-Chung neurodevelopmental syndrome 1 0 0 0 0 1
Opsismodysplasia 0 1 0 0 0 1
Optic atrophy 9 0 1 0 0 0 1
Osteogenesis imperfecta, type 18 0 0 0 0 1 1
Osteosclerotic metaphyseal dysplasia 0 1 0 0 0 1
PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 1 0 0 0 0 1
PMM2-congenital disorder of glycosylation 0 0 0 1 0 1
Paramyotonia congenita of Von Eulenburg 1 0 0 0 0 1
Parkinson disease 11, autosomal dominant, susceptibility to 0 0 1 0 0 1
Parkinsonian-pyramidal syndrome 0 0 1 0 0 1
Peeling skin syndrome 5 1 0 0 0 0 1
Periodic fever-infantile enterocolitis-autoinflammatory syndrome 0 0 0 1 0 1
Peripheral neuropathy 1 0 0 0 0 1
Peroxisome biogenesis disorder 8B 0 1 0 0 0 1
Peroxisome biogenesis disorder type 3B 1 0 0 0 0 1
Pettigrew syndrome 1 0 0 0 0 1
Phenylketonuria 1 0 0 0 0 1
Pierpont syndrome 1 0 0 0 0 1
Pierson syndrome 0 0 0 1 0 1
Pigmentary pallidal degeneration 0 1 0 0 0 1
Pigmentary retinal dystrophy 0 0 1 0 0 1
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 0 0 1 0 0 1
Poirier-Bienvenu neurodevelopmental syndrome 1 0 0 0 0 1
Polyendocrine-polyneuropathy syndrome 0 0 1 0 0 1
Pontocerebellar hypoplasia type 6 0 0 0 0 1 1
Pontocerebellar hypoplasia, type 1D 1 0 0 0 0 1
Pontoneocerebellar hypoplasia 1 0 0 0 0 1
Porencephaly-microcephaly-bilateral congenital cataract syndrome 1 0 0 0 0 1
Porokeratosis 7, multiple types 1 0 0 0 0 1
Portal hypertension 1 0 0 0 0 1
Primary ciliary dyskinesia 28 0 0 1 0 0 1
Primary ciliary dyskinesia 29 1 0 0 0 0 1
Primary ciliary dyskinesia 32 0 1 0 0 0 1
Primary ciliary dyskinesia 6 0 0 0 1 0 1
Primary hypomagnesemia 0 0 1 0 0 1
Progressive myoclonic epilepsy type 7 0 0 0 1 0 1
Progressive pseudorheumatoid dysplasia 1 0 0 0 0 1
Proteasome-associated autoinflammatory syndrome 1 0 0 1 0 0 1
Proximal myopathy with extrapyramidal signs 0 1 0 0 0 1
Pseudo-Hurler polydystrophy 1 0 0 0 0 1
Pseudohypoparathyroidism type I A 1 0 0 0 0 1
Pseudopseudohypoparathyroidism 1 0 0 0 0 1
Pulmonary fibrosis 0 1 0 0 0 1
Pulmonary hypertension 1 0 0 0 0 1
Pulmonary hypertension, primary, 3 0 0 1 0 0 1
Pyknodysostosis 0 1 0 0 0 1
Pyruvate dehydrogenase E3 deficiency 1 0 0 0 0 1
Rabson-Mendenhall syndrome 0 1 0 0 0 1
Recessive dystrophic epidermolysis bullosa 0 1 0 0 0 1
Recessive mitochondrial ataxia syndrome 1 0 0 0 0 1
Renal hypodysplasia/aplasia 4 0 1 0 0 0 1
Renpenning syndrome 1 0 0 0 0 1
Respiratory infections, recurrent, and failure to thrive with or without diarrhea 0 1 0 0 0 1
Retinal arteries 0 1 0 0 0 1
Retinitis pigmentosa 10 1 0 0 0 0 1
Retinitis pigmentosa 27 1 0 0 0 0 1
Retinitis pigmentosa 42 1 0 0 0 0 1
Retinitis pigmentosa 43 0 1 0 0 0 1
Retinitis pigmentosa 74 1 0 0 0 0 1
Retinitis pigmentosa 81 0 0 1 0 0 1
Rickets 0 1 0 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 0 1 0 0 1
STING-associated vasculopathy with onset in infancy 0 0 1 0 0 1
Sandhoff disease 0 1 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 0 1
Severe combined immunodeficiency due to DCLRE1C deficiency 0 0 1 0 0 1
Severe combined immunodeficiency due to IKK2 deficiency 0 1 0 0 0 1
Sitosterolemia 1 1 0 0 0 0 1
Sjögren-Larsson syndrome 1 0 0 0 0 1
Smith-Lemli-Opitz syndrome 0 0 1 0 0 1
Spastic Paraplegia 52 0 1 0 0 0 1
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 1 0 0 0 0 1
Spermatogenic failure 23 0 0 1 0 0 1
Spermatogenic failure 30 0 0 1 0 0 1
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 0 1 0 0 0 1
Spinocerebellar ataxia 45 0 0 1 0 0 1
Spinocerebellar ataxia type 2 0 0 0 0 1 1
Spinocerebellar atrophy 1 0 0 0 0 1
Spondyloenchondrodysplasia with immune dysregulation 0 0 0 1 0 1
Spondyloepiphyseal dysplasia tarda 0 1 0 0 0 1
Spondylometaphyseal dysplasia with corneal dystrophy 0 1 0 0 0 1
Squalene synthase deficiency 0 0 1 0 0 1
Stankiewicz-Isidor syndrome 1 0 0 0 0 1
Steel syndrome 1 0 0 0 0 1
Sterile multifocal osteomyelitis with periostitis and pustulosis 0 0 1 0 0 1
Stuttering 0 1 0 0 0 1
Stuve-Wiedemann syndrome 1 0 0 0 0 1
Succinyl-CoA acetoacetate transferase deficiency 0 1 0 0 0 1
Sulfite oxidase deficiency 1 0 0 0 0 1
TCF12-related craniosynostosis 0 0 0 1 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 1 0 0 0 0 1
Tall stature-intellectual disability-renal anomalies syndrome 0 1 0 0 0 1
Tay-Sachs disease 1 0 0 0 0 1
Temtamy syndrome 1 0 0 0 0 1
Thrombocythemia 2 0 1 0 0 0 1
Thrombocytopenia 2 0 0 1 0 0 1
Thrombophilia due to thrombin defect 1 0 0 0 0 1
Torsion dystonia 4 1 0 0 0 0 1
Trichohepatoenteric syndrome 2 1 0 0 0 0 1
Triosephosphate isomerase deficiency 1 0 0 0 0 1
Tuberous sclerosis 1 0 0 1 0 0 1
Tumoral calcinosis, hyperphosphatemic, familial, 1 0 1 0 0 0 1
Urocanate hydratase deficiency 0 1 0 0 0 1
Usher syndrome 1 0 0 0 0 1
Usher syndrome type 1D 0 0 1 0 0 1
Usher syndrome type 3A 0 0 1 0 0 1
Usmani-Riazuddin syndrome, autosomal recessive 1 0 0 0 0 1
Vanishing white matter disease 0 0 0 1 0 1
Vissers-Bodmer syndrome 1 0 0 0 0 1
Waardenburg syndrome 1 0 0 0 0 1
Wagner disease 0 0 0 0 1 1
White-Kernohan syndrome 0 1 0 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 0 1 0 0 1
Zaki syndrome 1 0 0 0 0 1
beta Thalassemia 1 0 0 0 0 1

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