ClinVar Miner

Variants from Johns Hopkins Genomics, Johns Hopkins University

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
439 278 761 219 64 1761

Gene and significance breakdown #

Total genes and gene combinations: 552
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CFTR 125 43 117 70 17 372
ABCA3 5 5 32 15 3 60
CFTR, LOC111674472 18 7 7 4 2 38
RTEL1, RTEL1-TNFRSF6B 4 0 19 1 0 24
DNAH5 5 4 12 2 0 23
ABCD1, PLXNB3 14 3 4 0 0 21
TERT 1 6 9 4 0 20
DNAH11 2 2 13 1 0 18
ABCD1 2 10 4 0 0 16
PKD1 1 2 11 2 0 16
TSC2 0 0 9 4 3 16
GNAS 6 1 7 0 1 15
DNAH1 0 2 11 1 0 14
CFTR, LOC111674475 6 1 2 3 1 13
CFTR, LOC111674477 1 0 6 3 3 13
NF1 2 3 6 1 1 13
SFTPC 1 1 6 3 1 12
FOXF1 1 0 1 5 4 11
HYDIN 0 3 8 0 0 11
SCNN1B 0 0 7 3 1 11
SCNN1A 0 1 8 0 1 10
SFTPB 2 1 3 3 1 10
DNAH9 0 2 7 0 0 9
FBN1 1 1 5 1 0 8
GATA2 2 2 3 1 0 8
NKX2-1, SFTA3 2 2 3 1 0 8
SCNN1G 0 0 8 0 0 8
ATP7B 3 1 3 0 0 7
COL1A1 0 3 4 0 0 7
COL4A3, MFF-DT 0 0 7 0 0 7
NOTCH1 0 3 3 1 0 7
PARN 1 1 4 1 0 7
SAMD9L 0 0 7 0 0 7
BRCA1 5 0 1 0 0 6
BRCA2 4 1 0 0 1 6
CFTR, LOC113664106 4 0 2 0 0 6
CTC1 0 1 3 2 0 6
DYNC2H1 2 1 3 0 0 6
FLNA 0 0 3 3 0 6
G6PD 3 2 0 0 1 6
HPS1 3 0 2 1 0 6
MEFV 1 0 5 0 0 6
MYH9 1 0 4 1 0 6
PEX6 2 3 1 0 0 6
PKHD1 1 4 1 0 0 6
TCOF1 4 1 0 1 0 6
TTN 1 3 2 0 0 6
CCDC40 2 1 2 0 0 5
DNAH8 0 0 5 0 0 5
DNAI1 1 0 4 0 0 5
FN1 0 1 3 1 0 5
HPS4 0 0 2 2 1 5
LRP5 0 0 5 0 0 5
RUNX1 0 1 4 0 0 5
SLC4A1 0 1 4 0 0 5
VWF 1 1 2 1 0 5
ADA2 4 0 0 0 0 4
ALPL 4 0 0 0 0 4
AP3B1 0 0 0 1 3 4
BMPR2 0 0 3 1 0 4
C3 0 1 3 0 0 4
CCDST, FLG 2 2 0 0 0 4
COL3A1 1 0 1 2 0 4
COPA 0 0 4 0 0 4
CPLANE1 1 1 2 0 0 4
CRB2 0 0 3 1 0 4
CSF2RA 0 0 2 0 2 4
CSF2RB 0 0 3 1 0 4
DDX41 2 0 2 0 0 4
DNAAF1 0 0 4 0 0 4
FLCN 1 0 3 0 0 4
IDUA 1 1 2 0 0 4
LMNA 2 1 1 0 0 4
MLH1 0 1 2 1 0 4
MSH2 3 0 0 1 0 4
NOTCH2 0 0 1 3 0 4
NPHP3, NPHP3-ACAD11 3 1 0 0 0 4
ODAD1 2 0 2 0 0 4
PEX1 3 1 0 0 0 4
SPTA1 1 1 1 0 1 4
TNXB 0 0 3 1 0 4
VHL 2 1 0 0 1 4
ABCA4 2 1 0 0 0 3
ABCC6 1 1 1 0 0 3
ABCC8 0 1 2 0 0 3
ACD 0 0 3 0 0 3
ARHGAP31 0 0 0 2 1 3
ASPM 3 0 0 0 0 3
ATM 3 0 0 0 0 3
ATP13A3 1 1 1 0 0 3
BICC1 0 0 3 0 0 3
CACNA1S 0 1 2 0 0 3
CC2D2A 1 2 0 0 0 3
CD46 1 1 1 0 0 3
CFTR, LOC111674463 0 0 1 1 1 3
CHD7 2 0 0 1 0 3
COL2A1 2 1 0 0 0 3
COL4A4 0 0 2 0 1 3
COL4A5 2 0 1 0 0 3
CREBBP 1 0 1 0 1 3
ELANE 0 0 2 1 0 3
ENG 0 0 2 1 0 3
EYA1 0 0 3 0 0 3
FANCA 2 0 1 0 0 3
FGA 1 0 2 0 0 3
FGFR2 2 0 0 1 0 3
FGFR3 3 0 0 0 0 3
FREM2 2 0 0 0 1 3
GBA1, LOC106627981 1 1 1 0 0 3
GJB2 3 0 0 0 0 3
HBB, LOC106099062, LOC107133510 3 0 0 0 0 3
INSL6, JAK2 0 0 2 1 0 3
KCNQ1 2 0 1 0 0 3
KIAA0586 0 1 2 0 0 3
KMT2D 2 1 0 0 0 3
LOC107303340, VHL 2 0 1 0 0 3
LOC126861898, MYH7 0 2 1 0 0 3
LYST 2 0 0 1 0 3
MARS1 0 0 3 0 0 3
MSH6 1 0 0 2 0 3
NPHS2 1 1 1 0 0 3
NR3C2 2 0 1 0 0 3
OCA2 1 2 0 0 0 3
OFD1 0 0 2 1 0 3
PALB2 1 0 2 0 0 3
PAX2 0 1 2 0 0 3
PIGN 1 0 2 0 0 3
PMM2 3 0 0 0 0 3
PPP1R12A 1 2 0 0 0 3
RAG1 1 2 0 0 0 3
RFWD3 0 0 2 1 0 3
RSPH9 1 1 0 1 0 3
SALL1 0 0 3 0 0 3
SAMD9 0 0 2 1 0 3
SLC34A1 0 0 3 0 0 3
SMAD4 2 0 1 0 0 3
STAT3 0 1 1 1 0 3
STING1 0 0 3 0 0 3
ABCB4 0 0 2 0 0 2
ACE 0 0 2 0 0 2
ADA 2 0 0 0 0 2
AGL 1 0 1 0 0 2
ALMS1 1 0 1 0 0 2
ANKRD26 0 1 0 1 0 2
APOB 1 1 0 0 0 2
ATP1A3 2 0 0 0 0 2
AUTS2 0 0 2 0 0 2
AVPR2 0 0 2 0 0 2
BTD 2 0 0 0 0 2
C12orf4 0 2 0 0 0 2
CCNH, RASA1 0 0 2 0 0 2
CEP164 0 0 1 1 0 2
CFAP298, CFAP298-TCP10L 1 0 0 1 0 2
CFTR, LOC111674467 0 0 2 0 0 2
CFTR, LOC111674468 0 0 1 1 0 2
CFTR, LOC111674474 0 0 2 0 0 2
CFTR, LOC113633875 0 0 1 1 0 2
CFTR, LOC113633876 0 0 0 2 0 2
CFTR, LOC126860160 0 0 2 0 0 2
CHD2 0 2 0 0 0 2
CHEK2 0 2 0 0 0 2
CLCN5 1 0 1 0 0 2
COL11A1 0 1 1 0 0 2
COL1A2 1 1 0 0 0 2
COL4A1 0 0 1 1 0 2
COL4A2 0 1 1 0 0 2
COL5A1 0 0 2 0 0 2
DKC1 0 0 0 2 0 2
DLL4 0 0 1 1 0 2
DNAAF3 0 1 1 0 0 2
DNAJB13 0 0 0 2 0 2
DOCK8 2 0 0 0 0 2
DRC1 1 1 0 0 0 2
DYSF 1 1 0 0 0 2
EDA 0 2 0 0 0 2
ERCC2 1 1 0 0 0 2
ERCC6L2 0 1 1 0 0 2
ERF 0 2 0 0 0 2
FBLN2 0 0 2 0 0 2
FLNB 0 1 1 0 0 2
GAA 2 0 0 0 0 2
GLI2 0 0 2 0 0 2
GP1BA 0 1 1 0 0 2
GTPBP3 0 0 1 0 1 2
HSALR1, PIEZO1 0 0 0 0 2 2
ITGB4 0 0 1 0 1 2
KCNJ1 0 2 0 0 0 2
KDM5B 0 1 1 0 0 2
KMT2C 0 0 2 0 0 2
LDLR 2 0 0 0 0 2
LOC110806306, TERC 0 1 1 0 0 2
LRBA 0 0 2 0 0 2
MCTP2 0 0 2 0 0 2
MECP2 2 0 0 0 0 2
MPL 1 0 1 0 0 2
MTM1 0 0 2 0 0 2
NRIP1 0 0 1 1 0 2
NSD1 1 1 0 0 0 2
OCRL 1 1 0 0 0 2
PIBF1 1 1 0 0 0 2
PKD1L1 0 0 1 1 0 2
PKD2 0 0 0 2 0 2
PLA2G6 0 1 1 0 0 2
PLEC 0 0 2 0 0 2
PLOD2 0 0 2 0 0 2
PLP1, RAB9B 0 0 1 1 0 2
POT1 1 0 1 0 0 2
RASA1 0 0 1 1 0 2
RET 1 1 0 0 0 2
RPS19 1 0 1 0 0 2
RXYLT1 1 1 0 0 0 2
RYR1 1 0 1 0 0 2
SCN2A 0 0 2 0 0 2
SCN5A 1 0 1 0 0 2
SETD1A 0 2 0 0 0 2
SFTPA1 0 0 2 0 0 2
SFTPA2 0 0 2 0 0 2
SH2B3 0 0 2 0 0 2
SKIC2 0 2 0 0 0 2
SLC12A3 0 2 0 0 0 2
SLC25A38 1 0 1 0 0 2
SLC5A2 0 0 1 1 0 2
SLFN14 0 0 1 1 0 2
SOS1 1 0 1 0 0 2
SPTB 1 1 0 0 0 2
STAG1 0 2 0 0 0 2
STUB1 0 2 0 0 0 2
TAFAZZIN 0 0 2 0 0 2
TBX18 0 0 1 1 0 2
TCIRG1 2 0 0 0 0 2
THPO 0 0 2 0 0 2
TINF2 0 0 2 0 0 2
TNNT2 0 0 2 0 0 2
TP53 0 1 0 1 0 2
TTR 2 0 0 0 0 2
TUBA1A 0 2 0 0 0 2
TWIST1 2 0 0 0 0 2
TYR 1 1 0 0 0 2
USP9X 0 1 1 0 0 2
WDPCP 0 0 2 0 0 2
WNK1 0 0 2 0 0 2
WRAP53 0 0 0 2 0 2
ZCCHC8 0 0 2 0 0 2
ZNF687 0 0 2 0 0 2
ABCB1 0 0 1 0 0 1
ACTB 1 0 0 0 0 1
ACTG2 0 0 1 0 0 1
ACTN1 0 0 0 1 0 1
ACVRL1 0 0 1 0 0 1
ADAR 1 0 0 0 0 1
AIRE 1 0 0 0 0 1
ALAS2, LOC108663984 0 0 1 0 0 1
ALMS1, LOC126806252 0 0 1 0 0 1
ANK1 0 0 1 0 0 1
ANKLE2 0 0 1 0 0 1
ANLN 0 0 0 1 0 1
APC 0 0 1 0 0 1
ARCN1 1 0 0 0 0 1
ATIC, FN1 0 0 1 0 0 1
ATM, C11orf65 0 0 0 0 1 1
ATP13A2 0 1 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 1
BBS5 1 0 0 0 0 1
BMPR1B 0 0 0 1 0 1
BMS1 0 0 1 0 0 1
BNC2 0 0 0 1 0 1
BPTF 0 1 0 0 0 1
BTK 0 1 0 0 0 1
C10orf105, CDH23 1 0 0 0 0 1
C1R 0 0 1 0 0 1
C1S 0 0 0 1 0 1
C6 1 0 0 0 0 1
CA12 0 0 0 0 1 1
CACNA1A, LOC126862865 0 1 0 0 0 1
CACNA1D 0 0 1 0 0 1
CACNA1G 0 0 1 0 0 1
CACNA1H 0 0 0 1 0 1
CAPN10 0 0 1 0 0 1
CASR 0 0 1 0 0 1
CBL 0 0 1 0 0 1
CCDC22 0 1 0 0 0 1
CCDC39 0 0 0 1 0 1
CCDC39, TTC14 1 0 0 0 0 1
CCDST, FLG2 0 0 1 0 0 1
CD46, LOC129932405 0 0 1 0 0 1
CDH15 0 0 1 0 0 1
CDH23 1 0 0 0 0 1
CDON 0 0 1 0 0 1
CERS1, GDF1 0 1 0 0 0 1
CFAP74 0 1 0 0 0 1
CFB 0 0 1 0 0 1
CFH 0 0 0 1 0 1
CFHR5 0 0 1 0 0 1
CFTR, LOC111674464 0 0 0 1 0 1
CFTR, LOC113219471 0 0 1 0 0 1
CFTR, LOC113219472 0 0 1 0 0 1
CFTR, LOC113633874 0 0 1 0 0 1
CFTR, LOC113664106, LOC113664107 1 0 0 0 0 1
CHD4 0 1 0 0 0 1
CHD8 0 0 1 0 0 1
CHRNE, LOC130060040 0 0 1 0 0 1
CLCNKA, LOC106501712 0 0 1 0 0 1
CLTC 1 0 0 0 0 1
COL10A1, NT5DC1 0 1 0 0 0 1
COL12A1 0 0 1 0 0 1
COL9A2 0 0 1 0 0 1
COL9A3 0 0 1 0 0 1
CPT2 1 0 0 0 0 1
CR1 0 0 1 0 0 1
CR2 0 0 1 0 0 1
CR2, LOC126805994 0 0 1 0 0 1
CSNK2A1 0 1 0 0 0 1
CTNS 1 0 0 0 0 1
DDX3X 0 1 0 0 0 1
DHCR7 1 0 0 0 0 1
DIPK1A, RPL5 0 0 1 0 0 1
DNAAF4, DNAAF4-CCPG1 1 0 0 0 0 1
DNAAF5 0 1 0 0 0 1
DNAAF6 0 0 0 0 1 1
DNAH11, LOC126859961 1 0 0 0 0 1
DNAH5, LOC126807318 0 0 1 0 0 1
DNAH7 0 0 1 0 0 1
DNAH9, LOC101928350 0 0 1 0 0 1
DNASE1 0 0 1 0 0 1
DNMT3A 0 0 1 0 0 1
DRC2 1 0 0 0 0 1
DRD3 0 0 1 0 0 1
DSC2 1 0 0 0 0 1
DSG2 0 0 1 0 0 1
DSP 0 1 0 0 0 1
DTNA 0 0 1 0 0 1
DVL1 0 0 1 0 0 1
EGLN1 1 0 0 0 0 1
EHHADH 0 0 1 0 0 1
EIF2AK4 1 0 0 0 0 1
EPAS1 0 0 0 1 0 1
EPAS1, LOC126806210 0 0 1 0 0 1
EPB41 0 0 1 0 0 1
EPHB4 1 0 0 0 0 1
ERBB2 0 0 0 1 0 1
ETV6 0 0 1 0 0 1
F11 1 0 0 0 0 1
F8 1 0 0 0 0 1
FANCA, ZNF276 0 0 1 0 0 1
FANCB 0 0 1 0 0 1
FANCE 0 0 0 1 0 1
FAT2, SLC36A1 0 0 1 0 0 1
FBXO11, MSH6 0 0 1 0 0 1
FEZF2 0 0 1 0 0 1
FGFR1 0 0 0 1 0 1
FIG4 1 0 0 0 0 1
FLI1 0 0 1 0 0 1
FN1, LOC126806498 0 0 1 0 0 1
FOXJ1 0 0 0 1 0 1
GABRD 0 0 1 0 0 1
GALK1, ITGB4 0 1 0 0 0 1
GANAB 0 0 0 1 0 1
GATA3 0 0 1 0 0 1
GATA5 0 0 1 0 0 1
GATA6 1 0 0 0 0 1
GATAD2B 0 1 0 0 0 1
GFI1 0 0 1 0 0 1
GFI1B 0 0 1 0 0 1
GGCX 0 0 1 0 0 1
GJA8 0 1 0 0 0 1
GLA, RPL36A-HNRNPH2 1 0 0 0 0 1
GLB1 1 0 0 0 0 1
GLI3 0 0 1 0 0 1
GNAS, LOC130066270 0 1 0 0 0 1
GPNMB 0 1 0 0 0 1
HIVEP2 0 0 1 0 0 1
HMBS 0 0 0 1 0 1
HMGCS2 0 1 0 0 0 1
HNF1B 0 0 1 0 0 1
HNMT 0 0 1 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
HNRNPK 0 1 0 0 0 1
HTRA1 0 1 0 0 0 1
HYCC1 0 1 0 0 0 1
IDUA, SLC26A1 1 0 0 0 0 1
IFT140, LOC105371046 0 0 1 0 0 1
IKZF1 0 1 0 0 0 1
IL6R 0 0 1 0 0 1
INAVA 0 0 1 0 0 1
IQCE 0 0 1 0 0 1
JMJD1C 0 0 1 0 0 1
KAT6A 1 0 0 0 0 1
KCNK3 0 0 1 0 0 1
KCNN4 0 0 0 1 0 1
KDM5C 0 0 1 0 0 1
KDM6B 0 0 1 0 0 1
LAMA1 0 1 0 0 0 1
LBR 0 0 1 0 0 1
LIMS2 0 0 1 0 0 1
LINS1 0 0 0 1 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 1
LMX1B 0 0 1 0 0 1
LOC106780803, TNXB 0 0 1 0 0 1
LOC107985033, SLFN14 0 0 1 0 0 1
LOC110806263, TERT 0 1 0 0 0 1
LOC126653391, RSPH1 1 0 0 0 0 1
LOC126805851, RBM8A 1 0 0 0 0 1
LOC126859837, SYNE1 0 0 1 0 0 1
LOC126861242, NDUFV1 0 1 0 0 0 1
LOC126862264, MEFV 0 0 1 0 0 1
LOC126863137, MYH9 0 0 1 0 0 1
LOC126863253, UBA1 1 0 0 0 0 1
LOC129994985, TCOF1 0 0 1 0 0 1
LOC129997052, RSPH4A 1 0 0 0 0 1
LOC129997480, SYNE1 0 0 1 0 0 1
LOC129999375, PODXL 0 0 0 0 1 1
LOC130058478, SOCS1 0 0 1 0 0 1
LRP2 0 1 0 0 0 1
LRP4 0 0 0 1 0 1
LZTR1 0 0 1 0 0 1
MAP1B 0 0 1 0 0 1
MAP3K7 0 0 1 0 0 1
MATN3 0 1 0 0 0 1
MBL2 0 0 0 0 1 1
MED13 0 0 1 0 0 1
MEN1 1 0 0 0 0 1
MN1 0 1 0 0 0 1
MSH3 0 0 1 0 0 1
MT-ND4 0 0 1 0 0 1
MT-ND5 0 1 0 0 0 1
MT-TK 1 0 0 0 0 1
MT-TL1 1 0 0 0 0 1
MTMR14 0 0 1 0 0 1
MUTYH 1 0 0 0 0 1
MYH3 0 0 1 0 0 1
MYH6 0 0 1 0 0 1
MYH7 0 1 0 0 0 1
MYL3 0 0 1 0 0 1
MYO3A 0 0 1 0 0 1
MYO5B 0 1 0 0 0 1
NAF1 0 0 1 0 0 1
NBEAL2 0 1 0 0 0 1
NDUFB11 0 0 1 0 0 1
NFIA 1 0 0 0 0 1
NFIX 0 1 0 0 0 1
NFKB2, PSD 1 0 0 0 0 1
NKX2-1 0 0 0 1 0 1
NKX2-5 0 0 1 0 0 1
NLGN4X 0 0 1 0 0 1
NLRP12 0 0 1 0 0 1
NLRP3 0 0 1 0 0 1
NOD2 0 0 1 0 0 1
NOTCH3 0 1 0 0 0 1
NPHP1 1 0 0 0 0 1
NPHS1 0 1 0 0 0 1
NPTX1 0 1 0 0 0 1
OAS1 0 0 1 0 0 1
ODAD3 0 0 0 1 0 1
OR10Z1, SPTA1 0 1 0 0 0 1
OTC 0 0 1 0 0 1
OTOGL 0 1 0 0 0 1
PAH 1 0 0 0 0 1
PAK1 0 1 0 0 0 1
PCSK9 0 1 0 0 0 1
PDHA1 0 0 1 0 0 1
PIK3CA 0 1 0 0 0 1
PKLR 0 1 0 0 0 1
PKP2 1 0 0 0 0 1
PLD1 0 0 1 0 0 1
PMP2 0 1 0 0 0 1
POGZ 0 1 0 0 0 1
POLG 0 0 1 0 0 1
PQBP1 0 1 0 0 0 1
PRF1 0 0 1 0 0 1
PRKAR1A 1 0 0 0 0 1
PRKCH 0 0 1 0 0 1
PRODH 0 0 1 0 0 1
PSEN1 0 1 0 0 0 1
PTEN 0 1 0 0 0 1
PXDN 0 0 1 0 0 1
PYGM 0 1 0 0 0 1
RANBP2 0 0 1 0 0 1
RB1 1 0 0 0 0 1
RBM20 0 0 1 0 0 1
RBPJ 0 0 1 0 0 1
REN 0 0 1 0 0 1
ROBO2 0 0 1 0 0 1
ROBO3 1 0 0 0 0 1
ROBO4 0 0 1 0 0 1
RPL10 0 0 1 0 0 1
RPS26 0 0 1 0 0 1
RSPH1 1 0 0 0 0 1
RTN4R 0 0 1 0 0 1
RUSF1, SLC5A2 0 0 1 0 0 1
RYR2 0 1 0 0 0 1
SBDS 1 0 0 0 0 1
SCN10A 0 0 0 1 0 1
SCN8A 0 1 0 0 0 1
SDHB 1 0 0 0 0 1
SERPING1 0 0 1 0 0 1
SETD2 1 0 0 0 0 1
SHANK2 0 0 1 0 0 1
SHANK3 0 0 1 0 0 1
SHH 1 0 0 0 0 1
SLC12A2 0 1 0 0 0 1
SLC16A2 0 0 1 0 0 1
SLC1A4 1 0 0 0 0 1
SLC26A4 1 0 0 0 0 1
SLC2A1 1 0 0 0 0 1
SLC7A7 0 1 0 0 0 1
SLITRK2 0 0 1 0 0 1
SMAD9 0 0 1 0 0 1
SOX17 0 0 1 0 0 1
SPG11 0 0 1 0 0 1
STAT1 0 1 0 0 0 1
STAT5B 0 0 1 0 0 1
STX11 0 0 1 0 0 1
STXBP1 0 1 0 0 0 1
SUOX 0 1 0 0 0 1
SYN1 0 0 1 0 0 1
SYNE1 0 0 1 0 0 1
SZT2 0 1 0 0 0 1
TAP2 0 0 1 0 0 1
TBCK 1 0 0 0 0 1
TBX1 1 0 0 0 0 1
TBX4 0 0 1 0 0 1
TBXT 0 0 1 0 0 1
TCF20 0 0 1 0 0 1
TCTN2 1 0 0 0 0 1
TDP1 1 0 0 0 0 1
TGFB2 0 1 0 0 0 1
TGFBR2 0 1 0 0 0 1
TGM1 1 0 0 0 0 1
TM4SF20 0 0 0 1 0 1
TNFAIP3 1 0 0 0 0 1
TNFRSF11B 0 0 1 0 0 1
TNNI3 0 0 1 0 0 1
TRPV6 0 1 0 0 0 1
TRRAP 0 0 1 0 0 1
TSC1 0 0 1 0 0 1
TTC21B 0 0 1 0 0 1
TUBB 0 1 0 0 0 1
TUBB1 0 0 1 0 0 1
UMOD 0 1 0 0 0 1
VCL 0 0 1 0 0 1
VPS13B 0 0 0 1 0 1
WDR73 0 0 1 0 0 1
WNK4 0 0 1 0 0 1
WNT10A 1 0 0 0 0 1
WNT4 0 0 1 0 0 1
WNT5A 0 0 1 0 0 1
WT1 1 0 0 0 0 1
XIAP 0 0 1 0 0 1
ZEB2 1 0 0 0 0 1
ZFPM2 0 1 0 0 0 1
ZMYND10 1 0 0 0 0 1
ZNF423 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 569
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cystic fibrosis 156 52 145 86 23 462
Interstitial lung disease due to ABCA3 deficiency 5 5 32 15 3 60
Adrenoleukodystrophy 16 13 8 0 0 37
not provided 2 3 13 10 1 29
Primary ciliary dyskinesia 3 4 3 15 2 0 24
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 3 0 19 1 0 23
Primary ciliary dyskinesia 7 4 2 12 1 0 19
Polycystic kidney disease, adult type 1 2 11 2 0 16
Tuberous sclerosis 2 1 0 9 2 4 16
Ciliary dyskinesia, primary, 37 0 3 10 1 0 14
Neurofibromatosis, type 1 2 2 6 2 1 13
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 4 9 0 0 13
Surfactant metabolism dysfunction, pulmonary, 2 1 1 6 3 1 12
Alveolar capillary dysplasia with pulmonary venous misalignment 2 0 1 4 4 11
Dyskeratosis congenita, autosomal dominant 2 1 3 4 3 0 11
Primary ciliary dyskinesia 5 0 3 7 1 0 11
Ciliary dyskinesia, primary, 40 0 1 9 0 0 10
Surfactant metabolism dysfunction, pulmonary, 1 2 1 3 3 1 10
Pseudohypoparathyroidism 4 1 2 0 1 8
Acute myeloid leukemia 0 1 6 0 0 7
Autosomal dominant Alport syndrome 0 0 7 0 0 7
Brain-lung-thyroid syndrome 1 1 3 2 0 7
Glomerulopathy with fibronectin deposits 2 0 0 4 2 1 7
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 1 5 0 0 7
Marfan syndrome 1 1 4 1 0 7
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 1 1 5 0 0 7
Treacher Collins syndrome 1 5 0 1 1 0 7
Von Hippel-Lindau syndrome 3 1 3 0 0 7
Wilson disease 3 1 3 0 0 7
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 3 2 1 0 0 6
Asphyxiating thoracic dystrophy 3 0 2 3 1 0 6
Breast-ovarian cancer, familial, susceptibility to, 1 5 0 1 0 0 6
Breast-ovarian cancer, familial, susceptibility to, 2 4 1 0 0 1 6
Bronchiectasis with or without elevated sweat chloride 3 0 0 6 0 0 6
Cerebroretinal microangiopathy with calcifications and cysts 1 0 1 3 2 0 6
Hermansky-Pudlak syndrome 1 3 0 2 1 0 6
Peroxisome biogenesis disorder 4A (Zellweger) 2 3 1 0 0 6
Pseudohypoaldosteronism, type IB1, autosomal recessive 0 1 4 0 1 6
Ataxia-pancytopenia syndrome 0 0 5 0 0 5
Bronchiectasis with or without elevated sweat chloride 2 0 0 5 0 0 5
Familial Mediterranean fever, autosomal dominant 0 0 5 0 0 5
Hereditary spherocytosis type 4 0 2 3 0 0 5
Hermansky-Pudlak syndrome 4 0 0 2 2 1 5
Kartagener syndrome 1 0 4 0 0 5
Polycystic kidney disease 4 1 4 0 0 0 5
Primary ciliary dyskinesia 15 2 1 2 0 0 5
Pulmonary arterial hypertension 1 0 4 0 0 5
Spermatogenic failure 46 0 0 5 0 0 5
Aortic valve disease 1 0 3 1 0 0 4
Ataxia-telangiectasia syndrome 3 0 0 0 1 4
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 1 1 2 0 0 4
Autoimmune interstitial lung disease-arthritis syndrome 0 0 4 0 0 4
Bronchiectasis with or without elevated sweat chloride 1 0 0 3 0 1 4
Capillary malformation-arteriovenous malformation 1 0 0 3 1 0 4
DDX41-related hematologic malignancy predisposition syndrome 1 0 3 0 0 4
Deficiency of adenosine deaminase 2 4 0 0 0 0 4
Fanconi anemia complementation group A 2 0 2 0 0 4
Focal segmental glomerulosclerosis 9 1 0 2 1 0 4
Hereditary spherocytosis type 3 1 2 1 0 0 4
Hermansky-Pudlak syndrome 2 0 0 0 1 3 4
Joubert syndrome 17 1 1 2 0 0 4
Liddle syndrome 1 0 0 2 2 0 4
NPHP3-related Meckel-like syndrome 3 1 0 0 0 4
Peroxisome biogenesis disorder 1A (Zellweger) 3 1 0 0 0 4
Polycystic liver disease 4 with or without kidney cysts 0 0 4 0 0 4
Primary ciliary dyskinesia 13 0 0 4 0 0 4
Primary ciliary dyskinesia 20 1 0 2 1 0 4
Pseudopseudohypoparathyroidism 2 1 1 0 0 4
Surfactant metabolism dysfunction, pulmonary, 4 0 0 2 0 2 4
Surfactant metabolism dysfunction, pulmonary, 5 0 0 3 1 0 4
Vesicoureteral reflux 8 0 0 3 1 0 4
Adams-Oliver syndrome 1 0 0 0 2 1 3
Adams-Oliver syndrome 5 2 1 0 0 0 3
Alagille syndrome due to a NOTCH2 point mutation 0 0 1 2 0 3
Alstrom syndrome 1 0 2 0 0 3
Atypical hemolytic-uremic syndrome with C3 anomaly 0 1 2 0 0 3
Autosomal dominant pseudohypoaldosteronism type 1 2 0 1 0 0 3
Autosomal recessive inherited pseudoxanthoma elasticum 1 1 1 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 2 1 0 0 3
Autosomal recessive nonsyndromic hearing loss 1A 3 0 0 0 0 3
CHARGE syndrome 1 0 1 1 0 3
Chédiak-Higashi syndrome 2 0 0 1 0 3
Colorectal cancer, hereditary nonpolyposis, type 2 0 0 2 1 0 3
Dilated cardiomyopathy 1A 1 0 2 0 0 3
Dyskeratosis congenita, autosomal dominant 6 0 0 3 0 0 3
Ehlers-Danlos syndrome, type 4 1 0 1 1 0 3
Familial renal glucosuria 1 0 2 0 0 3
Fanconi anemia, complementation group W 0 0 2 1 0 3
Fraser syndrome 2 2 0 0 0 1 3
Genitourinary and/or brain malformation syndrome 1 2 0 0 0 3
Hypercholesterolemia, familial, 1 2 0 1 0 0 3
Hypertrophic cardiomyopathy 1 0 2 1 0 0 3
Hypokalemic periodic paralysis, type 1 0 1 2 0 0 3
Ichthyosis vulgaris 2 1 0 0 0 3
Junctional epidermolysis bullosa with pyloric atresia 0 1 1 0 1 3
Kabuki syndrome 1 2 1 0 0 0 3
Long QT syndrome 1 2 0 1 0 0 3
Lynch syndrome 5 1 0 0 2 0 3
Microcephaly 5, primary, autosomal recessive 3 0 0 0 0 3
Monocytopenia with susceptibility to infections 0 0 2 1 0 3
Mucopolysaccharidosis 1 0 2 0 0 3
Multiple congenital anomalies-hypotonia-seizures syndrome 1 1 0 2 0 0 3
Nephrotic syndrome, type 2 1 1 1 0 0 3
Neutropenia, severe congenital, 1, autosomal dominant 0 0 2 1 0 3
PMM2-congenital disorder of glycosylation 3 0 0 0 0 3
Platelet-type bleeding disorder 20 0 0 2 1 0 3
Primary ciliary dyskinesia 12 1 0 2 0 0 3
Pulmonary hypertension, primary, 5 1 1 1 0 0 3
Renal dysplasia, cystic, susceptibility to 0 0 3 0 0 3
Rubinstein-Taybi syndrome due to CREBBP mutations 1 0 1 0 1 3
STING-associated vasculopathy with onset in infancy 0 0 3 0 0 3
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 0 0 3 0 0 3
Telangiectasia, hereditary hemorrhagic, type 1 0 0 2 1 0 3
Townes-Brocks syndrome 1 0 0 3 0 0 3
Tyrosinase-positive oculocutaneous albinism 1 2 0 0 0 3
X-linked Alport syndrome 2 0 1 0 0 3
3-Methylglutaconic aciduria type 2 0 0 2 0 0 2
Adams-Oliver syndrome 6 0 0 2 0 0 2
Adult hypophosphatasia 2 0 0 0 0 2
Amyloidosis, hereditary systemic 1 2 0 0 0 0 2
Autism spectrum disorder due to AUTS2 deficiency 0 0 2 0 0 2
Autosomal recessive Alport syndrome 0 0 1 0 1 2
Autosomal recessive ataxia, Beauce type 0 0 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 2 0 0 2
Autosomal recessive osteopetrosis 1 2 0 0 0 0 2
Autosomal recessive spinocerebellar ataxia 16 0 2 0 0 0 2
Bardet-Biedl syndrome 15 0 0 2 0 0 2
Bartter disease type 2 0 2 0 0 0 2
Biotinidase deficiency 2 0 0 0 0 2
Brain small vessel disease 2A, autosomal dominant 0 0 2 0 0 2
Branchiootic syndrome 1 0 0 2 0 0 2
Bruck syndrome 2 0 0 2 0 0 2
CHEK2-related cancer predisposition 0 2 0 0 0 2
Childhood hypophosphatasia 2 0 0 0 0 2
Combined immunodeficiency due to DOCK8 deficiency 2 0 0 0 0 2
Combined immunodeficiency due to LRBA deficiency 0 0 2 0 0 2
Combined immunodeficiency with skin granulomas 0 1 1 0 0 2
Combined oxidative phosphorylation defect type 23 0 0 1 0 1 2
Congenital anomalies of kidney and urinary tract 2 0 0 1 1 0 2
Congenital anomalies of kidney and urinary tract 3 0 0 1 1 0 2
Conotruncal heart malformations 1 0 1 0 0 2
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 0 0 0 2 2
Developmental and epileptic encephalopathy 94 0 2 0 0 0 2
Diabetes insipidus, nephrogenic, X-linked 0 0 2 0 0 2
Diamond-Blackfan anemia 1 1 0 1 0 0 2
Dyskeratosis congenita, X-linked 0 0 0 2 0 2
Dyskeratosis congenita, autosomal dominant 3 0 0 2 0 0 2
Dyskeratosis congenita, autosomal recessive 3 0 0 0 2 0 2
Ehlers-Danlos syndrome, classic type, 1 0 0 2 0 0 2
Erythrocytosis, familial, 4 0 0 2 0 0 2
Familial Mediterranean fever 1 0 1 0 0 2
Familial cancer of breast 0 0 2 0 0 2
Familial hypokalemia-hypomagnesemia 0 2 0 0 0 2
Familial spontaneous pneumothorax 0 0 2 0 0 2
Familial visceral amyloidosis, Ostertag type 0 0 2 0 0 2
Gaucher disease type I 1 0 1 0 0 2
Glycogen storage disease type III 1 0 1 0 0 2
Glycogen storage disease, type II 2 0 0 0 0 2
Hereditary spherocytosis type 2 2 0 0 0 0 2
Heterotaxy, visceral, 8, autosomal 0 0 1 1 0 2
Hurler syndrome 1 1 0 0 0 2
Hypercholesterolemia, autosomal dominant, type B 1 1 0 0 0 2
Hypophosphatemic nephrolithiasis/osteoporosis 1 0 0 1 1 0 2
Immunodeficiency, common variable, 7 0 0 1 1 0 2
Intellectual disability, X-linked 99 0 1 1 0 0 2
Intellectual disability, autosomal dominant 47 0 2 0 0 0 2
Intellectual disability, autosomal recessive 65 0 1 1 0 0 2
Intellectual disability, autosomal recessive 66 0 2 0 0 0 2
Interstitial lung disease 2 0 0 2 0 0 2
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 0 0 1 1 0 2
Joubert syndrome 10 0 0 2 0 0 2
Joubert syndrome 23 0 0 2 0 0 2
Joubert syndrome 33 1 1 0 0 0 2
Joubert syndrome 9 1 1 0 0 0 2
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 1 1 0 0 2
Kleefstra syndrome 2 0 0 2 0 0 2
Lambdoidal craniosynostosis 0 2 0 0 0 2
Li-Fraumeni syndrome 1 0 1 0 1 0 2
Lissencephaly due to TUBA1A mutation 0 2 0 0 0 2
Lynch syndrome 1 1 0 0 1 0 2
MELAS syndrome 1 1 0 0 0 2
Mismatch repair cancer syndrome 2 2 0 0 0 0 2
Monosomy 7 myelodysplasia and leukemia syndrome 1 0 0 2 0 0 2
Monosomy 7 myelodysplasia and leukemia syndrome 2 0 0 2 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 1 1 0 0 0 2
Myelodysplastic syndrome 0 1 0 1 0 2
Myopathy, myofibrillar, 9, with early respiratory failure 1 1 0 0 0 2
Nephronophthisis 15 0 0 1 1 0 2
Neurodegeneration with brain iron accumulation 2B 0 1 1 0 0 2
Noonan syndrome 4 1 0 1 0 0 2
Oculocutaneous albinism type 1A 1 1 0 0 0 2
Oculocutaneous albinism type 1B 1 1 0 0 0 2
Osteogenesis imperfecta 0 1 1 0 0 2
Osteogenesis imperfecta type I 0 0 2 0 0 2
Paget disease of bone 6 0 0 2 0 0 2
Pancytopenia-developmental delay syndrome 0 1 1 0 0 2
Pelizaeus-Merzbacher disease 0 1 1 0 0 2
Polycystic kidney disease 2 0 0 0 2 0 2
Primary ciliary dyskinesia 14 1 0 0 1 0 2
Primary ciliary dyskinesia 2 0 1 1 0 0 2
Primary ciliary dyskinesia 21 1 1 0 0 0 2
Primary ciliary dyskinesia 24 2 0 0 0 0 2
Primary ciliary dyskinesia 26 1 0 0 1 0 2
Primary ciliary dyskinesia 34 0 0 0 2 0 2
Progressive familial intrahepatic cholestasis type 3 0 0 2 0 0 2
Pseudohypoaldosteronism type 2C 0 0 2 0 0 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 0 1 1 0 0 2
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 0 0 2 0 0 2
Pulmonary hypertension, primary, 1 0 0 2 0 0 2
Pulmonary venoocclusive disease 1 0 0 1 1 0 2
Radial aplasia-thrombocytopenia syndrome 2 0 0 0 0 2
Renal coloboma syndrome 0 1 1 0 0 2
Renal tubular dysgenesis of genetic origin 0 0 2 0 0 2
Rett syndrome 2 0 0 0 0 2
STAT3-related early-onset multisystem autoimmune disease 0 1 1 0 0 2
Schizophrenia 0 0 2 0 0 2
Severe X-linked myotubular myopathy 0 0 1 1 0 2
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2 0 0 0 0 2
Severe early-childhood-onset retinal dystrophy 1 1 0 0 0 2
Sickle cell-hemoglobin C disease 2 0 0 0 0 2
Sideroblastic anemia 2 1 0 1 0 0 2
Simpson-Golabi-Behmel syndrome type 2 0 0 2 0 0 2
Sotos syndrome 1 1 0 0 0 2
Spondylocarpotarsal synostosis syndrome 0 1 1 0 0 2
Stickler syndrome type 1 1 1 0 0 0 2
Stickler syndrome type 2 0 1 1 0 0 2
Thanatophoric dysplasia type 1 2 0 0 0 0 2
Thrombocythemia 1 0 0 2 0 0 2
Thrombocythemia 2 2 0 0 0 0 2
Thrombocytopenia 2 0 1 0 1 0 2
Tooth agenesis, selective, X-linked, 1 0 2 0 0 0 2
Trichohepatoenteric syndrome 2 0 2 0 0 0 2
Tumor predisposition syndrome 3 1 0 1 0 0 2
Usher syndrome type 1D 2 0 0 0 0 2
Xeroderma pigmentosum, group D 1 1 0 0 0 2
von Willebrand disease type 1 0 0 2 0 0 2
von Willebrand disease type 2 1 1 0 0 0 2
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 1 0 0 0 1
Acrocephalosyndactyly type I 1 0 0 0 0 1
Acute intermittent porphyria 0 0 0 1 0 1
Adams-Oliver syndrome 3 1 0 0 0 0 1
Aicardi-Goutieres syndrome 1 0 1 0 0 0 1
Aicardi-Goutieres syndrome 6 1 0 0 0 0 1
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 1 0 0 1
Allan-Herndon-Dudley syndrome 0 0 1 0 0 1
Alternating hemiplegia of childhood 2 1 0 0 0 0 1
Alzheimer disease 3 0 1 0 0 0 1
Amyloidosis, primary localized cutaneous, 3 0 1 0 0 0 1
Anterior segment dysgenesis 7 0 0 1 0 0 1
Aortic valve disease 3 0 0 1 0 0 1
Aplasia cutis congenita 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 10 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 11 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 2 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 8 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 9 1 0 0 0 0 1
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 1 0 0 0 1
Atrial septal defect 3 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with B factor anomaly 0 0 1 0 0 1
Au-Kline syndrome 0 1 0 0 0 1
Autism, susceptibility to, 17 0 0 1 0 0 1
Autism, susceptibility to, X-linked 2 0 0 1 0 0 1
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 0 1 0 0 0 1
Autoinflammatory syndrome with immunodeficiency 0 0 1 0 0 1
Autoinflammatory syndrome, familial, Behcet-like 1 1 0 0 0 0 1
Autosomal dominant Robinow syndrome 1 0 0 1 0 0 1
Autosomal dominant Robinow syndrome 2 1 0 0 0 0 1
Autosomal dominant centronuclear myopathy 0 0 1 0 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 0 1 0 0 1
Autosomal dominant hypocalcemia 1 0 0 1 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 0 0 1
Autosomal recessive congenital ichthyosis 1 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2W 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 30 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 4 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 84B 0 1 0 0 0 1
Autosomal recessive polycystic kidney disease 1 0 0 0 0 1
Autosomal recessive spastic paraplegia type 78 0 1 0 0 0 1
Baraitser-Winter syndrome 1 1 0 0 0 0 1
Bardet-Biedl syndrome 5 1 0 0 0 0 1
Bartter disease type 4B 0 0 1 0 0 1
Benign familial hematuria 0 0 1 0 0 1
Benign hereditary chorea 0 0 1 0 0 1
Benign hereditary chorea; Brain-lung-thyroid syndrome 1 0 0 0 0 1
Bernard-Soulier syndrome, type A2, autosomal dominant 0 1 0 0 0 1
Beta-thalassemia HBB/LCRB 1 0 0 0 0 1
Bethlem myopathy 2 0 1 0 0 0 1
Birt-Hogg-Dube syndrome 0 0 1 0 0 1
Birt-Hogg-Dube syndrome 1 0 0 1 0 0 1
Blau syndrome 0 0 1 0 0 1
Bleeding disorder, platelet-type, 21 0 0 1 0 0 1
Brain malformations with or without urinary tract defects 1 0 0 0 0 1
Branchiootorenal syndrome 1 0 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 5 0 0 0 1 0 1
Brugada syndrome 1 0 0 1 0 0 1
C1 inhibitor deficiency 0 0 1 0 0 1
C3 glomerulonephritis 0 0 1 0 0 1
CEBALID syndrome 0 1 0 0 0 1
COACH syndrome 1; Meckel syndrome, type 6; Joubert syndrome 9 0 1 0 0 0 1
Capillary malformation-arteriovenous malformation 2 1 0 0 0 0 1
Cardiac valvular defect, developmental 0 0 1 0 0 1
Cardiospondylocarpofacial syndrome 0 0 1 0 0 1
Carney complex, type 1 1 0 0 0 0 1
Carnitine palmitoyl transferase II deficiency, myopathic form 1 0 0 0 0 1
Cataract 1 multiple types 0 1 0 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 0 0 1 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4J 1 0 0 0 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1G 0 1 0 0 0 1
Childhood onset GLUT1 deficiency syndrome 2 1 0 0 0 0 1
Ciliary dyskinesia, primary, 36, X-linked 0 0 0 0 1 1
Ciliary dyskinesia, primary, 43 0 0 0 1 0 1
Ciliary dyskinesia, primary, 49, without situs inversus 0 1 0 0 0 1
Ciliary dyskinesia, primary, 50 0 1 0 0 0 1
Cohen syndrome 0 0 0 1 0 1
Complement component 6 deficiency 1 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 6 0 1 0 0 0 1
Cone-rod dystrophy 3 1 0 0 0 0 1
Congenital heart defects, multiple types, 5 0 0 1 0 0 1
Congenital heart defects, multiple types, 6 0 1 0 0 0 1
Congenital microvillous atrophy 0 1 0 0 0 1
Congenital myasthenic syndrome 4A 0 0 1 0 0 1
Coxopodopatellar syndrome 0 0 1 0 0 1
Crouzon syndrome 0 0 0 1 0 1
Deafness-lymphedema-leukemia syndrome 1 0 0 0 0 1
Dehydrated hereditary stomatocytosis 2 0 1 0 0 0 1
Delpire-McNeill syndrome 0 1 0 0 0 1
Dent disease type 1 0 0 1 0 0 1
Dent disease type 2 0 1 0 0 0 1
Dermatitis, atopic, 2 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 11 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 13 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 18 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 4 0 1 0 0 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 0 1 0 0 1
DiGeorge syndrome 0 0 0 1 0 1
Diabetes mellitus, noninsulin-dependent, 1 0 0 1 0 0 1
Diamond-Blackfan anemia 10 0 0 1 0 0 1
Diamond-Blackfan anemia 6 0 0 1 0 0 1
Diaphragmatic hernia 3 0 1 0 0 0 1
Dilated cardiomyopathy 1D 0 0 0 1 0 1
Dilated cardiomyopathy 1DD 0 0 1 0 0 1
Donnai-Barrow syndrome 0 1 0 0 0 1
Drash syndrome; Frasier syndrome; Nephrotic syndrome, type 4; Wilms tumor 1 1 0 0 0 0 1
Dyskeratosis congenita, autosomal recessive 5 0 0 1 0 0 1
Dystonia 12 1 0 0 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 1 0 0 1
Ehlers-Danlos syndrome, periodontal type 1 0 0 1 0 0 1
Ehlers-Danlos syndrome, periodontal type 2 0 0 0 1 0 1
Elliptocytosis 1 0 0 1 0 0 1
Elliptocytosis 2 0 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 1 0 0 0 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 0 1 0 0 1
Epilepsy, early-onset, with or without developmental delay 0 1 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 10 0 0 1 0 0 1
Epiphyseal dysplasia, multiple, 3 0 0 1 0 0 1
Episodic ataxia type 2 0 1 0 0 0 1
Episodic pain syndrome, familial, 2 0 0 0 1 0 1
Erythrocytosis, familial, 3 1 0 0 0 0 1
Exudative vitreoretinopathy 4 0 0 1 0 0 1
Fabry disease 1 0 0 0 0 1
Factor H deficiency 0 0 0 1 0 1
Factor I deficiency 0 0 1 0 0 1
Familial acute necrotizing encephalopathy 0 0 0 1 0 1
Familial adenomatous polyposis 1 0 0 1 0 0 1
Familial adenomatous polyposis 2 1 0 0 0 0 1
Familial adenomatous polyposis 4 0 0 1 0 0 1
Familial cold autoinflammatory syndrome 2 0 0 1 0 0 1
Familial dysfibrinogenemia 1 0 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 2 0 0 1 0 0 1
Familial hemophagocytic lymphohistiocytosis 4 0 0 1 0 0 1
Familial juvenile hyperuricemic nephropathy type 1 0 1 0 0 0 1
Familial juvenile hyperuricemic nephropathy type 2 0 0 1 0 0 1
Familial medullary thyroid carcinoma 1 0 0 0 0 1
Familial pulmonary capillary hemangiomatosis 1 0 0 0 0 1
Fanconi anemia complementation group B 0 0 1 0 0 1
Fanconi anemia complementation group E 0 0 0 1 0 1
Fanconi renotubular syndrome 2 0 0 1 0 0 1
Fanconi renotubular syndrome 3 0 0 1 0 0 1
Finnish congenital nephrotic syndrome 0 1 0 0 0 1
Focal segmental glomerulosclerosis 7 0 0 1 0 0 1
Focal segmental glomerulosclerosis 8 0 0 0 1 0 1
Freeman-Sheldon syndrome; Arthrogryposis, distal, type 2B3 0 0 1 0 0 1
Galloway-Mowat syndrome 1 0 0 1 0 0 1
Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 0 1 0 0 0 1
Gaze palsy, familial horizontal, with progressive scoliosis 1 1 0 0 0 0 1
Glycogen storage disease, type V 0 1 0 0 0 1
Gray platelet syndrome 0 1 0 0 0 1
Greig cephalopolysyndactyly syndrome 0 0 1 0 0 1
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 0 0 1 0 0 1
Hearing loss, autosomal dominant 34, with or without inflammation 0 0 1 0 0 1
Hearing loss, autosomal dominant 75 0 0 1 0 0 1
Hematuria, benign familial, 1 0 0 1 0 0 1
Hereditary factor VIII deficiency disease 1 0 0 0 0 1
Hereditary factor XI deficiency disease 1 0 0 0 0 1
Hereditary spastic paraplegia 11 0 0 1 0 0 1
Hereditary spherocytosis type 1 0 0 1 0 0 1
Hirschsprung disease, susceptibility to, 1 0 1 0 0 0 1
Histiocytic medullary reticulosis 0 1 0 0 0 1
Holoprosencephaly 11 0 0 1 0 0 1
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 0 1 0 0 1
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 0 0 1 0 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 0 0 1 0 0 1
Hyper-IgE recurrent infection syndrome 5, autosomal recessive 0 0 1 0 0 1
Hyperaldosteronism, familial, type IV 0 0 0 1 0 1
Hypercholesterolemia, autosomal dominant, 3 0 1 0 0 0 1
Hyperparathyroidism, transient neonatal 0 1 0 0 0 1
Hyperphosphatasemia with bone disease 0 0 1 0 0 1
Hypertrophic cardiomyopathy 15 0 0 1 0 0 1
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 0 0 1 0 0 1
Hypertrophic cardiomyopathy 7 0 0 0 1 0 1
Hypertrophic cardiomyopathy 8 0 1 0 0 0 1
Hypomyelination and Congenital Cataract 0 0 1 0 0 1
Hypoparathyroidism, deafness, renal disease syndrome 0 0 1 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 0 0 0 0 1
Idiopathic pulmonary arterial hypertension 0 0 0 1 0 1
Immunodeficiency, common variable, 10 1 0 0 0 0 1
Inflammatory bowel disease 13 0 0 1 0 0 1
Inflammatory bowel disease 29 0 0 1 0 0 1
Inherited susceptibility to asthma 0 0 1 0 0 1
Intellectual developmental disorder 61 0 0 1 0 0 1
Intellectual developmental disorder with autism and macrocephaly 0 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 0 1 0 0 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 1 0 0 0 1
Intellectual developmental disorder, X-linked 111 0 0 0 0 1 1
Intellectual disability 0 0 1 0 0 1
Intellectual disability, X-linked 102 0 1 0 0 0 1
Intellectual disability, X-linked, syndromic, 35 0 0 1 0 0 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 0 0 0 1
Intellectual disability, autosomal dominant 3 0 0 1 0 0 1
Intellectual disability, autosomal dominant 43 0 0 1 0 0 1
Intellectual disability, autosomal dominant 56 1 0 0 0 0 1
Intellectual disability, autosomal recessive 27 0 0 0 1 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 0 0 0 1
Interstitial lung disease 1 0 0 1 0 0 1
Ischemic stroke 0 0 1 0 0 1
Isolated hyperchlorhidrosis 0 0 0 0 1 1
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 0 1 0 0 0 1
Joubert syndrome 24 1 0 0 0 0 1
Joubert syndrome with renal defect 1 0 0 0 0 1
Juvenile myelomonocytic leukemia 0 0 1 0 0 1
KNOPS BLOOD GROUP SYSTEM 0 0 1 0 0 1
Leber optic atrophy 0 1 0 0 0 1
Left ventricular noncompaction 1 0 0 1 0 0 1
Leigh syndrome 0 1 0 0 0 1
Liddle syndrome 2 0 0 1 0 0 1
Loeys-Dietz syndrome 2 0 1 0 0 0 1
Loeys-Dietz syndrome 4 0 1 0 0 0 1
Lowe syndrome 1 0 0 0 0 1
Lower urinary tract obstruction, congenital 0 0 0 1 0 1
Luscan-Lumish syndrome 1 0 0 0 0 1
Lysinuric protein intolerance 0 1 0 0 0 1
MERRF syndrome 0 0 1 0 0 1
MHC class I deficiency 0 0 1 0 0 1
MIRAGE syndrome 0 0 0 1 0 1
Macrocephaly-autism syndrome 0 1 0 0 0 1
Macrothrombocytopenia, isolated, 1, autosomal dominant 0 0 1 0 0 1
Malignant hyperthermia, susceptibility to, 1 1 0 0 0 0 1
Mannose-binding lectin deficiency 0 0 0 0 1 1
Marshall-Smith syndrome; Malan overgrowth syndrome 0 1 0 0 0 1
Megalencephaly-capillary malformation-polymicrogyria syndrome 0 1 0 0 0 1
Metaphyseal chondrodysplasia, Schmid type 0 1 0 0 0 1
Microcephaly 16, primary, autosomal recessive 0 0 1 0 0 1
Mismatch repair cancer syndrome 1 0 0 1 0 0 1
Mitochondrial complex I deficiency 0 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 30 0 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 4 0 1 0 0 0 1
Mowat-Wilson syndrome 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-IV-B 1 0 0 0 0 1
Muenke syndrome 1 0 0 0 0 1
Muir-Torré syndrome 0 1 0 0 0 1
Mullerian aplasia and hyperandrogenism 0 0 1 0 0 1
Multiple endocrine neoplasia, type 1 1 0 0 0 0 1
Multiple epiphyseal dysplasia type 5 0 1 0 0 0 1
Myhre syndrome 1 0 0 0 0 1
Nail-patella syndrome 0 0 1 0 0 1
Nephronophthisis 12 0 0 1 0 0 1
Nephronophthisis 14 0 0 0 0 1 1
Nephropathic cystinosis 1 0 0 0 0 1
Neural tube defect 0 0 1 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 1 0 0 0 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 1 0 0 0 1
Neuromuscular disease 0 0 1 0 0 1
Neutropenia, severe congenital, 2, autosomal dominant 0 0 1 0 0 1
Noonan syndrome 10 0 0 1 0 0 1
Odonto-onycho-dermal dysplasia 1 0 0 0 0 1
Okur-Chung neurodevelopmental syndrome 0 1 0 0 0 1
Ornithine carbamoyltransferase deficiency 0 0 1 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 0 1 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta type III 1 0 0 0 0 1
Osteogenesis imperfecta, perinatal lethal 0 1 0 0 0 1
Pancytopenia due to IKZF1 mutations 0 1 0 0 0 1
Peeling skin syndrome 6 0 0 1 0 0 1
Pelger-Huët anomaly 0 0 1 0 0 1
Periventricular nodular heterotopia 9 0 0 1 0 0 1
Pfeiffer syndrome 1 0 0 0 0 1
Phelan-McDermid syndrome 0 0 1 0 0 1
Phenylketonuria 1 0 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 4 1 0 0 0 0 1
Platelet-type bleeding disorder 15 0 0 0 1 0 1
Platelet-type bleeding disorder 17 0 0 1 0 0 1
Polycystic kidney disease 3 with or without polycystic liver disease 0 0 0 1 0 1
Polydactyly, postaxial, type a7 0 0 1 0 0 1
Polyglandular autoimmune syndrome, type 1 1 0 0 0 0 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 0 1 0 0 1
Primary ciliary dyskinesia 11 1 0 0 0 0 1
Primary ciliary dyskinesia 18 0 1 0 0 0 1
Primary ciliary dyskinesia 22 1 0 0 0 0 1
Primary ciliary dyskinesia 25 1 0 0 0 0 1
Primary ciliary dyskinesia 27 1 0 0 0 0 1
Primary ciliary dyskinesia 30 0 0 0 1 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 0 0 1 0 0 1
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 1 0 0 0 0 1
Pseudo von Willebrand disease 0 0 1 0 0 1
Pseudohypoaldosteronism type 2B 0 0 1 0 0 1
Pseudohypoaldosteronism, type IB2, autosomal recessive 0 0 0 1 0 1
Pseudohypoparathyroidism type 1B 0 0 1 0 0 1
Pseudohypoparathyroidism type I A 0 0 1 0 0 1
Pulmonary alveolar proteinosis with hypogammaglobulinemia 0 0 1 0 0 1
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 0 0 1 0 0 1
Pulmonary hypertension, primary, 2 0 0 1 0 0 1
Pulmonary hypertension, primary, 4 0 0 1 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 0 1 0 0 1
Pyruvate kinase deficiency of red cells 0 1 0 0 0 1
Renal cysts and diabetes syndrome 0 0 1 0 0 1
Renpenning syndrome 0 1 0 0 0 1
Respiratory distress associated with prematurity 0 0 1 0 0 1
Retinitis pigmentosa 23 0 0 1 0 0 1
Retinoblastoma 1 0 0 0 0 1
Ritscher-Schinzel syndrome 2 0 1 0 0 0 1
Saldino-Mainzer syndrome 0 0 1 0 0 1
Schizophrenia 4 0 0 1 0 0 1
Seizures, benign familial infantile, 3 0 0 1 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 0 0 0 1
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 1 0 0 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 0 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 0 1
Smith-Lemli-Opitz syndrome 1 0 0 0 0 1
Solitary median maxillary central incisor syndrome 0 0 1 0 0 1
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 1 0 0 0 0 1
Specific language impairment 5 0 0 0 1 0 1
Spinocerebellar ataxia 45 0 0 1 0 0 1
Spinocerebellar ataxia 50 0 1 0 0 0 1
Spinocerebellar ataxia type 42 0 0 1 0 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 1 0 0 0 0 1
Spondyloepiphyseal dysplasia congenita 1 0 0 0 0 1
Stickler syndrome, type 5 0 0 1 0 0 1
Sulfite oxidase deficiency 0 1 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 0 1 0 0 1
Systemic lupus erythematosus 0 0 1 0 0 1
TWIST1-related craniosynostosis 1 0 0 0 0 1
TWIST1-related craniosynostosis; Saethre-Chotzen syndrome 1 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 2 0 0 1 0 0 1
Thrombocythemia 3 0 0 1 0 0 1
Thrombocytopenia 0 0 1 0 0 1
Thrombocytopenia 5 0 0 1 0 0 1
Tibial muscular dystrophy 0 0 0 0 1 1
Tuberous sclerosis 1 0 0 1 0 0 1
VEXAS syndrome 1 0 0 0 0 1
Vesicoureteral reflux 2 0 0 1 0 0 1
Vesicoureteral reflux 3 0 0 1 0 0 1
Visceral myopathy 1 0 0 1 0 0 1
X-linked agammaglobulinemia 0 1 0 0 0 1
X-linked lymphoproliferative disease due to XIAP deficiency 0 0 1 0 0 1
X-linked recessive nephrolithiasis with renal failure 0 0 1 0 0 1
X-linked sideroblastic anemia 1 0 0 1 0 0 1

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