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:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
366 208 580 162 42 1358

Gene and significance breakdown #

Total genes and gene combinations: 463
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CFTR 100 31 85 48 13 277
ABCA3 5 5 27 15 3 55
ABCD1 16 12 8 0 0 36
CFTR, LOC111674472 16 4 5 2 2 29
RTEL1, RTEL1-TNFRSF6B 3 0 18 1 0 22
DNAH5 4 2 12 2 0 20
TERT 1 4 9 3 0 17
GNAS 6 1 6 0 1 14
DNAH11 1 1 9 1 0 12
SFTPC 1 1 6 3 1 12
PKD1 1 1 8 1 0 11
SCNN1B 0 0 7 3 1 11
FOXF1 1 0 1 4 4 10
CFTR, LOC111674475 5 1 1 1 1 9
NF1 2 1 5 1 0 9
SCNN1A 0 1 7 0 1 9
CFTR, LOC111674477 1 0 4 1 2 8
FBN1 1 1 5 1 0 8
SFTPB 2 0 2 3 1 8
ATP7B 3 1 3 0 0 7
NKX2-1, SFTA3 2 1 3 1 0 7
SCNN1G 0 0 7 0 0 7
TSC2 0 0 5 2 0 7
COL1A1 0 2 4 0 0 6
CTC1 0 1 3 2 0 6
DNAH1 0 2 4 0 0 6
GATA2 0 2 3 1 0 6
PEX6 2 3 1 0 0 6
BRCA2 4 0 0 0 1 5
CCDC40 2 1 2 0 0 5
COL4A3, MFF-DT 0 0 5 0 0 5
DNAH8 0 0 5 0 0 5
DNAI1 1 0 4 0 0 5
FLNA 0 0 2 3 0 5
HPS4 0 0 2 2 1 5
HYDIN 0 0 5 0 0 5
PARN 0 1 4 0 0 5
RUNX1 0 1 4 0 0 5
SAMD9L 0 0 5 0 0 5
TCOF1 4 0 0 1 0 5
TTN 1 3 1 0 0 5
VWF 1 1 2 1 0 5
ADA2 4 0 0 0 0 4
AP3B1 0 0 0 1 3 4
BMPR2 0 0 3 1 0 4
BRCA1 3 0 1 0 0 4
CFTR, LOC113664106 4 0 0 0 0 4
COL3A1 1 0 1 2 0 4
CSF2RB 0 0 3 1 0 4
DNAAF1 0 0 4 0 0 4
DYNC2H1 0 1 3 0 0 4
FN1 0 0 3 1 0 4
LRP5 0 0 4 0 0 4
MSH2 3 0 0 1 0 4
MYH9 1 0 3 0 0 4
NPHP3, NPHP3-ACAD11 3 1 0 0 0 4
PEX1 3 1 0 0 0 4
ABCA4 2 1 0 0 0 3
ACD 0 0 3 0 0 3
ALPL 3 0 0 0 0 3
ASPM 3 0 0 0 0 3
BICC1 0 0 3 0 0 3
C3 0 1 2 0 0 3
CACNA1S 0 1 2 0 0 3
CD46 1 1 1 0 0 3
COL2A1 2 1 0 0 0 3
COL4A5 2 0 1 0 0 3
COPA 0 0 3 0 0 3
CSF2RA 0 0 2 0 1 3
DDX41 1 0 2 0 0 3
ENG 0 0 2 1 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
FLCN 0 0 3 0 0 3
FREM2 2 0 0 0 1 3
G6PD 1 2 0 0 0 3
GBA1, LOC106627981 1 1 1 0 0 3
GJB2 3 0 0 0 0 3
HPS1 1 0 2 0 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
MLH1 0 0 2 1 0 3
MSH6 1 0 0 2 0 3
NOTCH1 0 2 1 0 0 3
NOTCH2 0 0 0 3 0 3
OCA2 1 2 0 0 0 3
PAX2 0 1 2 0 0 3
PIGN 1 0 2 0 0 3
PKHD1 1 2 0 0 0 3
PMM2 3 0 0 0 0 3
PPP1R12A 1 2 0 0 0 3
RFWD3 0 0 2 1 0 3
SALL1 0 0 3 0 0 3
SAMD9 0 0 2 1 0 3
STAT3 0 1 1 1 0 3
STING1 0 0 3 0 0 3
TNXB 0 0 2 1 0 3
ABCC8 0 1 1 0 0 2
ADA 2 0 0 0 0 2
ALMS1 1 0 1 0 0 2
ATM 2 0 0 0 0 2
ATP13A3 1 1 0 0 0 2
ATP1A3 2 0 0 0 0 2
AUTS2 0 0 2 0 0 2
BTD 2 0 0 0 0 2
C12orf4 0 2 0 0 0 2
CCDST, FLG 2 0 0 0 0 2
CCNH, RASA1 0 0 2 0 0 2
CEP164 0 0 1 1 0 2
CHD7 1 0 0 1 0 2
CLCN5 1 0 1 0 0 2
COL1A2 1 1 0 0 0 2
COL4A1 0 0 1 1 0 2
COL5A1 0 0 2 0 0 2
CPLANE1 1 1 0 0 0 2
CRB2 0 0 2 0 0 2
CREBBP 1 0 1 0 0 2
DKC1 0 0 0 2 0 2
DNAH9 0 1 1 0 0 2
DNAJB13 0 0 0 2 0 2
DOCK8 2 0 0 0 0 2
DYSF 1 1 0 0 0 2
ELANE 0 0 2 0 0 2
ERCC2 1 1 0 0 0 2
ERF 0 2 0 0 0 2
EYA1 0 0 2 0 0 2
FLG 0 2 0 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
HBB, LOC106099062, LOC107133510 2 0 0 0 0 2
IDUA 1 1 0 0 0 2
INSL6, JAK2 0 0 1 1 0 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
LMNA 1 0 1 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
MEFV 1 0 1 0 0 2
NPHS2 1 1 0 0 0 2
NR3C2 1 0 1 0 0 2
NRIP1 0 0 1 1 0 2
NSD1 1 1 0 0 0 2
OCRL 1 1 0 0 0 2
OFD1 0 0 2 0 0 2
PALB2 0 0 2 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
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
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
SLC34A1 0 0 2 0 0 2
SLFN14 0 0 1 1 0 2
SOS1 1 0 1 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
THPO 0 0 2 0 0 2
TP53 0 1 0 1 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
VHL 1 1 0 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
ACTG2 0 0 1 0 0 1
ACTN1 0 0 0 1 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
ANKLE2 0 0 1 0 0 1
ANKRD26 0 0 0 1 0 1
ANLN 0 0 0 1 0 1
APC 0 0 1 0 0 1
APOB 1 0 0 0 0 1
ARCN1 1 0 0 0 0 1
ARHGAP31 0 0 0 1 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 1
AVPR2 0 0 1 0 0 1
BBS5 1 0 0 0 0 1
BMPR1B 0 0 0 1 0 1
BMS1 0 0 1 0 0 1
BPTF 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
CAPN10 0 0 1 0 0 1
CASR 0 0 1 0 0 1
CBL 0 0 1 0 0 1
CC2D2A 0 1 0 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
CCDC65 1 0 0 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
CFAP298, CFAP298-TCP10L 1 0 0 0 0 1
CFB 0 0 1 0 0 1
CFTR, LOC111674463 0 0 0 1 0 1
CFTR, LOC111674467 0 0 1 0 0 1
CFTR, LOC111674468 0 0 0 1 0 1
CFTR, LOC111674474 0 0 1 0 0 1
CFTR, LOC113633874 0 0 1 0 0 1
CFTR, LOC113633876 0 0 0 1 0 1
CFTR, LOC113664106, LOC113664107 1 0 0 0 0 1
CFTR, LOC126860160 0 0 1 0 0 1
CHD2 0 1 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
CLTC 1 0 0 0 0 1
COL10A1, NT5DC1 0 1 0 0 0 1
COL11A1 0 0 1 0 0 1
COL4A2 0 0 1 0 0 1
COL4A4 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
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
DLL4 0 0 1 0 0 1
DNAAF3 0 1 0 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
DNASE1 0 0 1 0 0 1
DNMT3A 0 0 1 0 0 1
DRC1 1 0 0 0 0 1
DSC2 1 0 0 0 0 1
DSP 0 1 0 0 0 1
DTNA 0 0 1 0 0 1
EDA 0 1 0 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, LOC126806210 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
FGFR1 0 0 0 1 0 1
FIG4 1 0 0 0 0 1
FLG, FLG2 0 0 1 0 0 1
FLI1 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
GFI1B 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
HMBS 0 0 0 1 0 1
HMGCS2 0 1 0 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
IDUA, SLC26A1 1 0 0 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
KAT6A 1 0 0 0 0 1
KCNK3 0 0 1 0 0 1
KDM5C 0 0 1 0 0 1
LBR 0 0 1 0 0 1
LDLR 1 0 0 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
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
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
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-ND5 0 1 0 0 0 1
MT-TL1 1 0 0 0 0 1
MTM1 0 0 1 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
MYO3A 0 0 1 0 0 1
MYO5B 0 1 0 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 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
NPHP1 1 0 0 0 0 1
NPHS1 0 1 0 0 0 1
OAS1 0 0 1 0 0 1
ODAD1 0 0 1 0 0 1
ODAD3 0 0 0 1 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
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, POLGARF 0 0 1 0 0 1
POLR1C, RSPH9 1 0 0 0 0 1
POT1 0 0 1 0 0 1
PQBP1 0 1 0 0 0 1
PRKAR1A 1 0 0 0 0 1
PRKCH 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
RAG1 0 1 0 0 0 1
RB1 1 0 0 0 0 1
RBM20 0 0 1 0 0 1
REN 0 0 1 0 0 1
ROBO3 1 0 0 0 0 1
RPL10 0 0 1 0 0 1
RPS26 0 0 1 0 0 1
RSPH1 1 0 0 0 0 1
RYR2 0 1 0 0 0 1
SBDS 1 0 0 0 0 1
SCN2A 0 0 1 0 0 1
SDHB 1 0 0 0 0 1
SETD2 1 0 0 0 0 1
SHANK2 0 0 1 0 0 1
SHANK3 0 0 1 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
SLC4A1 0 0 1 0 0 1
SLC5A2 0 0 1 0 0 1
SMAD4 1 0 0 0 0 1
SMAD9 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
TAP2 0 0 1 0 0 1
TBCK 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
TGFBR2 0 1 0 0 0 1
TINF2 0 0 1 0 0 1
TM4SF20 0 0 0 1 0 1
TNFRSF11B 0 0 1 0 0 1
TNNT2 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
TTR 1 0 0 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
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
ZMYND10 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 477
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cystic fibrosis 127 36 99 55 18 335
Interstitial lung disease due to ABCA3 deficiency 5 5 27 15 3 55
Adrenoleukodystrophy 16 12 8 0 0 36
not provided 2 3 13 10 1 29
Primary ciliary dyskinesia 3 4 2 13 2 0 21
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 3 0 17 1 0 21
Primary ciliary dyskinesia 7 2 1 9 1 0 13
Surfactant metabolism dysfunction, pulmonary, 2 1 1 6 3 1 12
Dyskeratosis congenita, autosomal dominant 2 1 3 4 3 0 11
Polycystic kidney disease, adult type 1 1 8 1 0 11
Alveolar capillary dysplasia with pulmonary venous misalignment 1 0 1 4 4 10
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 3 7 0 0 10
Neurofibromatosis, type 1 2 1 5 1 0 9
Pseudohypoparathyroidism 4 1 2 0 1 8
Surfactant metabolism dysfunction, pulmonary, 1 2 0 2 3 1 8
Brain-lung-thyroid syndrome 1 1 3 2 0 7
Marfan syndrome 1 1 4 1 0 7
Tuberous sclerosis 2 0 0 5 2 0 7
Wilson disease 3 1 3 0 0 7
Acute myeloid leukemia 0 1 5 0 0 6
Autosomal recessive pseudohypoaldosteronism type 1 0 1 4 0 1 6
Cerebroretinal microangiopathy with calcifications and cysts 1 0 1 3 2 0 6
Ciliary dyskinesia, primary, 37 0 2 4 0 0 6
Peroxisome biogenesis disorder 4A (Zellweger) 2 3 1 0 0 6
Treacher Collins syndrome 1 4 0 1 1 0 6
Ataxia-pancytopenia syndrome 0 0 5 0 0 5
Autosomal dominant Alport syndrome 0 0 5 0 0 5
Breast-ovarian cancer, familial, susceptibility to, 2 4 0 0 0 1 5
Bronchiectasis with or without elevated sweat chloride 3 0 0 5 0 0 5
Hermansky-Pudlak syndrome 4 0 0 2 2 1 5
Kartagener syndrome 1 0 4 0 0 5
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 0 4 0 0 5
Primary ciliary dyskinesia 15 2 1 2 0 0 5
Primary ciliary dyskinesia 5 0 0 5 0 0 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 0 1 4 0 0 5
Spermatogenic failure 46 0 0 5 0 0 5
Von Hippel-Lindau syndrome 3 1 1 0 0 5
Asphyxiating thoracic dystrophy 3 0 1 3 0 0 4
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 1 1 2 0 0 4
Breast-ovarian cancer, familial, susceptibility to, 1 3 0 1 0 0 4
Bronchiectasis with or without elevated sweat chloride 1 0 0 3 0 1 4
Bronchiectasis with or without elevated sweat chloride 2 0 0 4 0 0 4
Capillary malformation-arteriovenous malformation 1 0 0 3 1 0 4
Fanconi anemia complementation group A 2 0 2 0 0 4
Glomerulopathy with fibronectin deposits 2 0 0 3 1 0 4
Hermansky-Pudlak syndrome 2 0 0 0 1 3 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
Primary ciliary dyskinesia 13 0 0 4 0 0 4
Surfactant metabolism dysfunction, pulmonary, 5 0 0 3 1 0 4
Vasculitis due to ADA2 deficiency 4 0 0 0 0 4
Alstrom syndrome 1 0 2 0 0 3
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 2 0 0 0 3
Aortic valve disease 1 0 2 1 0 0 3
Atypical hemolytic-uremic syndrome with C3 anomaly 0 1 2 0 0 3
Autoimmune interstitial lung disease-arthritis syndrome 0 0 3 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
Chédiak-Higashi syndrome 2 0 0 1 0 3
Colorectal cancer, hereditary nonpolyposis, type 2 0 0 2 1 0 3
DDX41-related hematologic malignancy predisposition syndrome 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
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
Hermansky-Pudlak syndrome 1 1 0 2 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
Multiple congenital anomalies-hypotonia-seizures syndrome 1 1 0 2 0 0 3
PMM2-congenital disorder of glycosylation 3 0 0 0 0 3
Platelet-type bleeding disorder 20 0 0 2 1 0 3
Polycystic liver disease 4 with or without kidney cysts 0 0 3 0 0 3
Pseudopseudohypoparathyroidism 2 1 0 0 0 3
Renal dysplasia, cystic, susceptibility to 0 0 3 0 0 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
Surfactant metabolism dysfunction, pulmonary, 4 0 0 2 0 1 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
Vesicoureteral reflux 8 0 0 2 1 0 3
X-linked Alport syndrome 2 0 1 0 0 3
3-Methylglutaconic aciduria type 2 0 0 2 0 0 2
Alagille syndrome due to a NOTCH2 point mutation 0 0 0 2 0 2
Ataxia-telangiectasia syndrome 2 0 0 0 0 2
Autism spectrum disorder due to AUTS2 deficiency 0 0 2 0 0 2
Autosomal dominant pseudohypoaldosteronism type 1 1 0 1 0 0 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 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
Branchiootic syndrome 1 0 0 2 0 0 2
Bruck syndrome 2 0 0 2 0 0 2
CHARGE association 1 0 0 1 0 2
Childhood hypophosphatasia 2 0 0 0 0 2
Ciliary dyskinesia, primary, 40 0 1 1 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 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
Craniosynostosis 4 0 2 0 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 recessive 3 0 0 0 2 0 2
Ehlers-Danlos syndrome, classic type, 1 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
Focal segmental glomerulosclerosis 9 0 0 2 0 0 2
Gaucher disease type I 1 0 1 0 0 2
Glycogen storage disease, type II 2 0 0 0 0 2
Heterotaxy, visceral, 8, autosomal 0 0 1 1 0 2
Hurler syndrome 1 1 0 0 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
Joubert syndrome 17 1 1 0 0 0 2
Joubert syndrome 23 0 0 2 0 0 2
Joubert syndrome 33 1 1 0 0 0 2
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 1 1 0 0 0 2
Kleefstra syndrome 2 0 0 2 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
Mismatch repair cancer syndrome 2 2 0 0 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
Nephrotic syndrome, type 2 1 1 0 0 0 2
Neurodegeneration with brain iron accumulation 2B 0 1 1 0 0 2
Neutropenia, severe congenital, 1, autosomal dominant 0 0 2 0 0 2
Noonan syndrome 4 1 0 1 0 0 2
Oculocutaneous albinism type 1B 1 1 0 0 0 2
Osteogenesis imperfecta type I 0 0 2 0 0 2
Paget disease of bone 6 0 0 2 0 0 2
Polycystic kidney disease 2 0 0 0 2 0 2
Polycystic kidney disease 4 0 2 0 0 0 2
Primary ciliary dyskinesia 14 1 0 0 1 0 2
Primary ciliary dyskinesia 24 2 0 0 0 0 2
Primary ciliary dyskinesia 34 0 0 0 2 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 hypertension, primary, autosomal recessive 1 1 0 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
Rett syndrome 2 0 0 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 1 0 1 0 0 2
STAT3-related early-onset multisystem autoimmune disease 0 1 1 0 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
Thanatophoric dysplasia type 1 2 0 0 0 0 2
Thrombocythemia 1 0 0 2 0 0 2
Trichohepatoenteric syndrome 2 0 2 0 0 0 2
Tyrosinase-negative oculocutaneous albinism 1 1 0 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 1 0 0 0 1 0 1
Adams-Oliver syndrome 6 0 0 1 0 0 1
Adult hypophosphatasia 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
Aplasia cutis congenita 0 0 1 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
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
Autosomal dominant Robinow syndrome 1 0 0 1 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 Alport syndrome 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
Bardet-Biedl syndrome 5 1 0 0 0 0 1
Benign familial hematuria 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
Birt-Hogg-Dube syndrome 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
Brugada syndrome 1 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 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
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
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 94 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
Diabetes insipidus, nephrogenic, X-linked 0 0 1 0 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
Dilated cardiomyopathy 1A 0 0 1 0 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 dominant 3 0 0 1 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
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
Erythrocytosis, familial, 3 1 0 0 0 0 1
Erythrocytosis, familial, 4 0 0 1 0 0 1
Exudative vitreoretinopathy 4 0 0 1 0 0 1
Fabry disease 1 0 0 0 0 1
Familial Mediterranean fever, autosomal dominant 0 0 1 0 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 amyloid neuropathy 1 0 0 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 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
Familial renal glucosuria 0 0 1 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
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
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 4 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
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
Hypercholesterolemia, autosomal dominant, 3 0 1 0 0 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 0 0 1
Hypercholesterolemia, familial, 1 1 0 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
Hypoparathyroidism, deafness, renal disease syndrome 0 0 1 0 0 1
Hypophosphatemic nephrolithiasis/osteoporosis 1 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
Immunodeficiency, common variable, 7 0 0 1 0 0 1
Inflammatory bowel disease 13 0 0 1 0 0 1
Inflammatory bowel disease 29 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 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 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
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 0 0 0 1 0 1
Ischemic stroke 0 0 1 0 0 1
Isolated hyperchlorhidrosis 0 0 0 0 1 1
Joubert syndrome 10 0 0 1 0 0 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
Lowe syndrome 1 0 0 0 0 1
Luscan-Lumish syndrome 1 0 0 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
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 1 deficiency, nuclear type 30 0 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 4 0 1 0 0 0 1
Mowat-Wilson syndrome 1 0 0 0 0 1
Mucopolysaccharidosis 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-IV-B 1 0 0 0 0 1
Muenke syndrome 1 0 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
Nephropathic cystinosis 1 0 0 0 0 1
Neural tube defect 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
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 0 1 0 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
Paragangliomas 4 1 0 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
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
Porencephaly 2 0 0 1 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 12 1 0 0 0 0 1
Primary ciliary dyskinesia 18 0 1 0 0 0 1
Primary ciliary dyskinesia 2 0 1 0 0 0 1
Primary ciliary dyskinesia 20 0 0 1 0 0 1
Primary ciliary dyskinesia 21 1 0 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 26 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