ClinVar Miner

Variants from Clinical Genomics Laboratory, Washington University in St. Louis

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
296 264 1336 0 0 1896

Gene and significance breakdown #

Total genes and gene combinations: 828
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
FAT4 0 0 50 50
PIK3CA 26 20 3 49
PIEZO1 0 2 42 44
TEK 15 10 11 36
DCHS1 0 0 29 29
TTN 0 7 22 29
CELSR1 0 0 26 26
LZTR1 1 5 20 26
CCNH, RASA1 10 5 9 24
MTOR 6 2 16 24
TSC2 5 2 16 23
HSALR1, PIEZO1 0 0 19 19
FLT4 0 0 18 18
SMO 0 0 18 18
GNAS 2 1 14 17
NF1 7 0 9 16
EPHB4 1 4 10 15
PIK3R1 3 7 5 15
KRAS 6 7 1 14
OBSCN 0 0 14 14
PTEN 7 0 6 13
PTPN14 0 0 13 13
HRAS, LRRC56 2 9 1 12
KRIT1 3 0 9 12
GLMN 4 3 4 11
PDGFRB 1 0 10 11
TSC1 0 2 9 11
FGFR1 1 0 8 9
MAP2K1 4 3 2 9
MYBPC3 3 0 6 9
ADAMTS13 0 1 7 8
BRAF 4 0 4 8
MAP3K3 0 1 7 8
KEL 0 0 7 7
MED13 1 0 6 7
BRCA1 6 0 0 6
CLDN14 0 0 6 6
DEPDC5 1 0 5 6
FGFR2 1 0 5 6
IDH1 2 0 4 6
IDH2 0 1 5 6
KCNH2 2 2 2 6
KDR 0 0 6 6
PKD1 3 0 3 6
PTPN11 4 1 1 6
RYR1 2 3 1 6
ACTB 2 2 1 5
ADGRL1 0 0 5 5
ALMS1 0 0 5 5
BRCA2 4 1 0 5
CCBE1 0 0 5 5
CCM2 0 0 5 5
CHD8 0 0 5 5
GNA11 3 1 1 5
GNAQ 4 1 0 5
MYH7 0 3 2 5
NOTCH3 1 2 2 5
PIK3CD 0 0 5 5
PIK3R2 0 0 5 5
RYR2 2 0 3 5
TRRAP 0 0 5 5
ABCC8 1 0 3 4
AGTPBP1 0 0 4 4
ANKRD11 3 0 1 4
ARAF 0 0 4 4
CACNA1A 1 2 1 4
CCDST, FLG 4 0 0 4
CUBN 0 0 4 4
DSP 0 1 3 4
ENG 0 0 4 4
FAT1 0 0 4 4
FBN1 0 1 3 4
FLNC 2 0 2 4
HUWE1 0 0 4 4
KCNQ1 2 1 1 4
KIF11 0 0 4 4
LRBA 0 0 4 4
MET 0 0 4 4
MYLK 0 0 4 4
NRAS 1 3 0 4
POLR2A 0 0 4 4
PRKACA 0 0 4 4
SCN2A 0 0 4 4
SOS1 0 1 3 4
TET3 0 1 3 4
WFS1 0 1 3 4
ABCB4 1 0 2 3
ACE 0 0 3 3
ANK3 0 0 3 3
ANKRD17 0 1 2 3
APC 3 0 0 3
ATRX 0 0 3 3
BRPF1 2 0 1 3
CDKN1C 0 0 3 3
CEL 0 0 3 3
CFH 0 1 2 3
COL22A1 0 0 3 3
COL4A4 0 1 2 3
CPT2 0 1 2 3
CSNK2A1 0 2 1 3
DDX3X 0 2 1 3
DLG4 0 1 2 3
DLL1 0 1 2 3
DNAH11 0 1 2 3
DNAH14 0 0 3 3
DNASE1 0 0 3 3
EMP2 0 2 1 3
EPHB4, LOC126860124 0 0 3 3
FGFR3 2 0 1 3
FRYL 0 2 1 3
GAA 2 1 0 3
GJA4 0 0 3 3
GJC2 0 0 3 3
GNA14 0 0 3 3
HNF4A 0 1 2 3
KMT2A 2 0 1 3
KMT2B 0 0 3 3
KRT1 0 0 3 3
LDLR 2 1 0 3
LOC102724058, SCN1A 0 1 2 3
MC4R 1 0 2 3
NAA15 0 2 1 3
NF2 1 0 2 3
NIPBL 0 0 3 3
NLRC3 0 0 3 3
NSD1 1 1 1 3
PALB2 2 1 0 3
PIDD1 0 0 3 3
PKD1L1 0 1 2 3
PKP2 1 1 1 3
PLCE1 0 0 3 3
PLCG2 0 0 3 3
PMM2 2 0 1 3
PMS2 2 1 0 3
POGZ 1 1 1 3
POLRMT 0 0 3 3
SHOC2 1 1 1 3
SOX18 0 0 3 3
THBD 0 0 3 3
TNFRSF13B 2 0 1 3
TNRC6B 0 1 2 3
TRIO 0 0 3 3
TYR 2 1 0 3
WDR11 0 0 3 3
ABCA12 0 0 2 2
ADAMTS10 0 0 2 2
ADCY6 0 0 2 2
AGRN 0 0 2 2
AKAP9 0 0 2 2
AKT1 1 0 1 2
AKT2 0 0 2 2
ALOXE3 1 1 0 2
ALPL 1 1 0 2
ANK2 0 1 1 2
APOL1 0 0 2 2
ASH1L 0 0 2 2
ATM 0 0 2 2
ATP1A2 0 1 1 2
ATP2C1 0 0 2 2
ATP7A 1 0 1 2
BICRA 0 0 2 2
BSN 0 0 2 2
C3 0 1 1 2
CACNA1C 1 1 0 2
CAPN3 1 0 1 2
CC2D2A 0 0 2 2
CDC42BPB 0 1 1 2
CELSR1, LOC121627952 0 0 2 2
CFHR4 0 0 2 2
CFHR5 0 0 2 2
CFTR 1 0 1 2
CHD2 1 0 1 2
CHD5 0 0 2 2
CHD7 0 1 1 2
CLTC 0 1 1 2
COL10A1, NT5DC1 0 0 2 2
COL11A1 0 1 1 2
COL1A2 1 0 1 2
COL21A1 0 0 2 2
COL4A2 0 0 2 2
COL4A3, MFF-DT 0 1 1 2
CP 0 0 2 2
CRB2 0 0 2 2
CRMP1 0 0 2 2
CTNNB1, LOC126806658 0 1 1 2
CYP51A1 0 0 2 2
DEAF1 0 0 2 2
DGKE 0 1 1 2
DHCR7 2 0 0 2
DMD 0 0 2 2
DMXL2 0 0 2 2
DNAH5 0 0 2 2
DNMT3A 0 0 2 2
DOLK 0 0 2 2
DSG2 0 2 0 2
DYNC1H1 0 0 2 2
EHHADH 0 0 2 2
EHMT1 0 1 1 2
ELMO2 0 0 2 2
EP300 1 0 1 2
FBN3 0 0 2 2
FOXC2 0 0 2 2
FPGT-TNNI3K, TNNI3K 0 0 2 2
GATA2 0 0 2 2
GATA6 0 0 2 2
GCK 1 1 0 2
GJB2 2 0 0 2
GRIA1 0 0 2 2
HNF1A 0 0 2 2
HNRNPK 0 0 2 2
INF2 0 0 2 2
IQSEC2 0 0 2 2
IRAK1BP1, PHIP 0 0 2 2
ITGA3 0 0 2 2
JARID2 0 0 2 2
KANSL1 0 0 2 2
KAT5 0 0 2 2
KCNA2 0 0 2 2
KDM3B 0 0 2 2
KIF1A 0 0 2 2
KMT2C 0 0 2 2
KMT2D 1 1 0 2
KMT2E 0 1 1 2
KRT10 2 0 0 2
LMNA 1 0 1 2
LOC110121269, SCN5A 0 1 1 2
LRP2 0 1 1 2
LRRK2 1 0 1 2
MAGEL2 0 1 1 2
MAN2B2 0 0 2 2
MBD5 0 0 2 2
MED13L 0 0 2 2
MMP21 0 0 2 2
MSH2 2 0 0 2
MSH6 0 2 0 2
MYCBP2 0 0 2 2
MYO19, PIGW 0 1 1 2
MYOM1 0 0 2 2
NAV3 0 0 2 2
NEDD4L 0 0 2 2
OCA2 2 0 0 2
OGDHL 0 0 2 2
OTC 1 1 0 2
PEBP4 0 0 2 2
PKLR 0 0 2 2
PLXNA1 0 0 2 2
PLXNA3 0 0 2 2
PRICKLE2 0 0 2 2
RASA1 2 0 0 2
RBFOX2 0 0 2 2
RELN 0 0 2 2
RFX6 0 0 2 2
RHOA 0 0 2 2
SCN1A 1 0 1 2
SCN1A, SCN9A 0 0 2 2
SCN5A 1 1 0 2
SH2B1 0 0 2 2
SH3RF2 0 0 2 2
SHANK2 0 1 1 2
SHH 0 1 1 2
SLC12A2 0 0 2 2
SLC25A46 2 0 0 2
SMAD3 0 1 1 2
SMAD4 0 0 2 2
SMAD6 0 0 2 2
SNAPC4 0 0 2 2
SPEN 0 2 0 2
SPTAN1 0 1 1 2
SPTBN1 0 0 2 2
STK36 0 0 2 2
SYNGAP1 0 0 2 2
TBC1D15 0 0 2 2
TCF3 0 0 2 2
TCOF1 0 1 1 2
TERT 0 1 1 2
TGFBI 0 0 2 2
TRIP12 0 0 2 2
TRMT10A 0 0 2 2
TTC21B 0 0 2 2
TUBB3 0 2 0 2
TXNRD2 0 0 2 2
VPS13D 0 0 2 2
WDFY3 1 1 0 2
WDR24 0 0 2 2
WNT10A 1 0 1 2
ZFHX4 0 0 2 2
ZNF142 0 0 2 2
ABCA12, SNHG31 1 0 0 1
ABL1 0 0 1 1
ABTB3 0 0 1 1
ACAD8 0 1 0 1
ACADSB 0 1 0 1
ACADVL 0 0 1 1
ACBD6, LHX4 0 0 1 1
ACSS2, LOC126863018 0 0 1 1
ACTA2 0 1 0 1
ACTN4 0 0 1 1
ACVRL1 0 0 1 1
ADA2 0 1 0 1
ADAMTS19 0 0 1 1
ADAT3, SCAMP4 0 0 1 1
ADCY5 0 0 1 1
ADGRB1 0 0 1 1
ADGRB2 0 0 1 1
AEBP1 0 0 1 1
AFF2 0 0 1 1
AGL 0 0 1 1
AIRE 0 0 1 1
AIRE, LOC130066813 0 0 1 1
ALDH5A1 1 0 0 1
ALDH7A1 1 0 0 1
ALG12 0 0 1 1
ALG14 0 0 1 1
ANGPT1 0 0 1 1
ANKS1B 0 0 1 1
ANLN 0 0 1 1
AP1G1 0 0 1 1
APOB 0 1 0 1
APPL1 0 0 1 1
ARFGEF1 0 0 1 1
ARHGEF12 0 0 1 1
ARID1B 1 0 0 1
ARX 0 0 1 1
ASIC2 0 0 1 1
ASXL3 1 0 0 1
ATG4D 0 0 1 1
ATP11A 0 0 1 1
ATP13A3 0 0 1 1
ATP1A1 0 0 1 1
ATP1A3 0 0 1 1
ATP2A2 1 0 0 1
ATP2A2, LOC126861637 1 0 0 1
ATP2A2, LOC126861638 0 1 0 1
ATP6V1B2 0 0 1 1
BAZ1A 0 0 1 1
BAZ2B 0 0 1 1
BBS1, ZDHHC24 1 0 0 1
BCL10 0 0 1 1
BCL11A 0 0 1 1
BGN 0 0 1 1
BICD2 0 0 1 1
BMP8B 0 0 1 1
BNC2, LOC126860585 0 0 1 1
BPTF 0 1 0 1
BRAF, LOC126860202 0 0 1 1
BRWD3 0 1 0 1
C8B 1 0 0 1
CA12 1 0 0 1
CACNA1D 0 0 1 1
CACNA1E 0 0 1 1
CACNA1F 1 0 0 1
CACNA1F, LOC126863257 0 0 1 1
CACNA1S 1 0 0 1
CARD11 0 0 1 1
CARD14 0 0 1 1
CASQ2 0 0 1 1
CBS 0 0 1 1
CCND2 0 0 1 1
CD38 0 0 1 1
CD47, LOC129937199 0 0 1 1
CDC42 0 1 0 1
CDH9 0 0 1 1
CDK13 0 0 1 1
CDK8 0 0 1 1
CELSR1, LOC126863170 0 0 1 1
CERS1, GDF1, UPF1 0 1 0 1
CFAP74 0 1 0 1
CFI 0 0 1 1
CGN 0 0 1 1
CHD1 0 0 1 1
CHD3 0 0 1 1
CHD4 0 0 1 1
CHD6 0 0 1 1
CLN6 0 1 0 1
CLSTN3 0 0 1 1
CNPY3-GNMT, GNMT 0 0 1 1
CNTNAP1 0 0 1 1
COG1, VCF1 0 0 1 1
COG7 0 1 0 1
COL11A2 0 0 1 1
COL12A1 0 0 1 1
COL1A1 0 0 1 1
COL2A1 1 0 0 1
COL4A5 0 0 1 1
COL5A1 0 0 1 1
COL5A1, LOC101448202 0 0 1 1
COL9A1 0 0 1 1
COL9A2 1 0 0 1
COPA 0 0 1 1
COQ2 0 0 1 1
COQ8B 0 0 1 1
CPEB4 0 0 1 1
CPOX 0 1 0 1
CREBBP 0 1 0 1
CSF1R 0 0 1 1
CSF2RB 0 0 1 1
CSMD1 0 0 1 1
CSNK2B 0 0 1 1
CSTB 1 0 0 1
CTLA4 0 0 1 1
CTNNB1 1 0 0 1
CTNNB1, LOC126806659 0 0 1 1
CTR9, LOC126861140 0 0 1 1
CUBN, LOC129390143 0 0 1 1
DAGLA 0 0 1 1
DCC 0 1 0 1
DCHS1, LOC130005209 0 0 1 1
DCX 0 0 1 1
DENND5B 0 0 1 1
DGKI 0 0 1 1
DHTKD1 0 1 0 1
DHX30 0 0 1 1
DIAPH3 0 0 1 1
DIP2C 0 1 0 1
DISP1 0 0 1 1
DLL4 0 1 0 1
DNAH8 0 0 1 1
DOCK6 0 0 1 1
DPYD 0 1 0 1
DPYS 1 0 0 1
DPYSL2 0 0 1 1
DPYSL3 0 0 1 1
DRD4 0 0 1 1
DTNA 0 0 1 1
DUSP15 0 0 1 1
DVL1 0 0 1 1
EARS2 1 0 0 1
EBF1 0 0 1 1
EEF1A1 0 0 1 1
EFNB2, LOC126861841 0 0 1 1
EFTUD2 0 1 0 1
EIF2AK3 0 0 1 1
EIF3F 1 0 0 1
ELANE 0 0 1 1
ELN 1 0 0 1
EMC1 0 1 0 1
ENG, LOC102723566 0 1 0 1
EPHB4, SLC12A9 1 0 0 1
ERBB2 0 0 1 1
ERCC4 0 1 0 1
ERN1 0 0 1 1
ESCO2 1 0 0 1
ETF1 0 0 1 1
EXT1 1 0 0 1
EYA1 0 0 1 1
F11 1 0 0 1
F7 1 0 0 1
FAT1, LOC126807253 0 0 1 1
FBXW11 0 0 1 1
FDPS 0 0 1 1
FFAR4 0 0 1 1
FGD1, TSR2 0 1 0 1
FHOD3 0 0 1 1
FLNA 0 0 1 1
FLT4, LOC126807632 0 0 1 1
FN1, LOC126806498 0 0 1 1
FOXF1 1 0 0 1
FOXP4 0 0 1 1
FREM1 0 1 0 1
FRMD7 0 1 0 1
FZD2 0 0 1 1
GABBR1 0 0 1 1
GABBR2 0 0 1 1
GABRB3 1 0 0 1
GABRD 0 0 1 1
GAMT 0 1 0 1
GATA4 0 0 1 1
GATAD1, PEX1 1 0 0 1
GBA1, LOC106627981 0 1 0 1
GBF1 0 0 1 1
GDF2 0 0 1 1
GDF5 0 0 1 1
GFAP 0 0 1 1
GH-LCR, SCN4A 0 1 0 1
GHR 0 0 1 1
GHSR 0 0 1 1
GIGYF2, KCNJ13 0 0 1 1
GLI2 0 1 0 1
GLI3 0 1 0 1
GLIS3 0 0 1 1
GNB1 0 0 1 1
GPAA1 0 0 1 1
GPD2 0 0 1 1
GRHL2 0 1 0 1
GRHL3 0 0 1 1
GRIK5 0 0 1 1
GRIN2B 0 0 1 1
GRN 0 0 1 1
GUCY2D 0 0 1 1
H3-3A 0 0 1 1
HADH 0 0 1 1
HBB, LOC106099062, LOC107133510 1 0 0 1
HCFC1 0 0 1 1
HDAC1 0 0 1 1
HDAC4 0 0 1 1
HECW2 0 0 1 1
HERC1 0 1 0 1
HERC2 0 0 1 1
HFE 1 0 0 1
HGF 0 0 1 1
HMBS 0 0 1 1
HMGB1, USPL1 0 0 1 1
HMGCS2 1 0 0 1
HNRNPU 1 0 0 1
HOGA1 1 0 0 1
HOMER2 0 0 1 1
HSALR1, LOC130059751, PIEZO1 0 0 1 1
HSPD1 0 0 1 1
HTRA1 1 0 0 1
IDUA 1 0 0 1
IFIH1 0 0 1 1
IFITM3 0 0 1 1
IFT140, LOC105371046 0 1 0 1
IFT70B 0 0 1 1
IGF2, INS-IGF2 0 0 1 1
IL6ST 0 0 1 1
IL7, ZC2HC1A 0 0 1 1
IMMT 0 0 1 1
INSR 0 0 1 1
INTS11 0 1 0 1
INVS 0 0 1 1
IPO9, NAV1 0 0 1 1
IRAK3 0 0 1 1
ITGA2B 0 0 1 1
ITGB4 0 0 1 1
ITPR1 0 0 1 1
ITSN1 0 0 1 1
JMJD1C 0 0 1 1
JMJD8, STUB1 0 0 1 1
JUP 0 0 1 1
KANK1 0 0 1 1
KANK1, LOC126860554 0 0 1 1
KANK2 0 0 1 1
KANK4 0 0 1 1
KAT6B 0 0 1 1
KAT8 0 0 1 1
KCNA3 0 0 1 1
KCNC1 0 0 1 1
KCND2 0 0 1 1
KCNJ11 1 0 0 1
KCNQ5 0 0 1 1
KCNQ5, KCNQ5-DT 0 0 1 1
KDM4B 0 1 0 1
KDM5B 0 1 0 1
KDM5C 0 0 1 1
KDM6B 0 0 1 1
KIDINS220 0 1 0 1
KIF21A 1 0 0 1
KIF26A 0 0 1 1
KIF4A 0 0 1 1
KIF5A 0 0 1 1
KIF5B 0 0 1 1
KIT 0 0 1 1
KLF9-DT, TRPM3 0 0 1 1
KLHL15 0 0 1 1
KRT14 1 0 0 1
KRT2 1 0 0 1
KRT85 0 0 1 1
LAMA2 0 0 1 1
LAMA2, LOC126859784 0 0 1 1
LDB3 0 0 1 1
LEMD3 0 1 0 1
LIG4 0 0 1 1
LIPE, LOC101930071 0 0 1 1
LMNB2, LOC130063066 0 0 1 1
LOC100507346, PTCH1 1 0 0 1
LOC107652445, SHOX 0 0 1 1
LOC126806430, TTN 0 0 1 1
LOC126806878, TBL1XR1 0 1 0 1
LOC126807343, PDZD2 0 0 1 1
LOC126861887, SUPT16H 0 0 1 1
LOC126862264, MEFV 0 0 1 1
LOC129930446, MMACHC 1 0 0 1
LOC129935183, TTN 0 1 0 1
LOC129936665, SETD2 0 0 1 1
LOC129999303, SMO 0 0 1 1
LOC130004340, TNKS2 0 0 1 1
LOC130058479, SOCS1 0 0 1 1
LOC130061397, MAP3K3 0 0 1 1
LOC130063979, PIK3R2 0 0 1 1
LOC130066420, SOX18 0 0 1 1
LOC130068562, PAK3 0 0 1 1
LPL 0 0 1 1
LRRC37A2, NSF 0 0 1 1
LRSAM1 0 0 1 1
LYST 1 0 0 1
LZTR1, THAP7 1 0 0 1
MADD 0 1 0 1
MAOA 0 1 0 1
MAP1B 0 0 1 1
MAP2K1, SNAPC5 0 0 1 1
MAP2K2 0 0 1 1
MAP3K7 0 0 1 1
MAPK8IP3 0 0 1 1
MARK2 0 0 1 1
MASP2 0 0 1 1
MAST2 0 0 1 1
MDGA2 0 0 1 1
MED12L 0 0 1 1
MEFV 0 0 1 1
MEIS1 0 0 1 1
MEIS2 1 0 0 1
MID1 1 0 0 1
MKRN2 0 0 1 1
MSI2 0 0 1 1
MTMR2 0 0 1 1
MVD 0 0 1 1
MXRA5 0 0 1 1
MYCN 0 1 0 1
MYH10 0 0 1 1
MYH11, NDE1 0 0 1 1
MYH3 0 1 0 1
MYH6 0 0 1 1
MYLK2 0 0 1 1
MYLK3 0 0 1 1
MYO10 0 0 1 1
MYO7A 0 0 1 1
MYT1L 1 0 0 1
NAA10 0 1 0 1
NAGLU 0 1 0 1
NALCN 0 0 1 1
NARS2 0 1 0 1
NCOR1 0 0 1 1
NDUFA9 0 0 1 1
NEBL 0 0 1 1
NEFH 0 0 1 1
NEK8 0 0 1 1
NEK9 0 0 1 1
NETO1 0 0 1 1
NEUROD1 0 0 1 1
NEXMIF 1 0 0 1
NFIB 0 1 0 1
NKX2-1, SFTA3 1 0 0 1
NLRP12 0 0 1 1
NLRP3 0 0 1 1
NMNAT1 0 1 0 1
NODAL 0 0 1 1
NOTCH1 0 1 0 1
NOTCH2 0 0 1 1
NPR2 0 0 1 1
NRXN3 0 0 1 1
NSD2 0 1 0 1
NTRK3 0 0 1 1
NUP205 0 0 1 1
NYX 1 0 0 1
OFD1 0 0 1 1
OTOG 0 1 0 1
OTOGL 0 1 0 1
PACS1 0 0 1 1
PAX3 1 0 0 1
PCGF2 0 0 1 1
PCM1 0 0 1 1
PDE10A 0 0 1 1
PDE11A 0 0 1 1
PDE4D 0 0 1 1
PDX1 1 0 0 1
PEA15 0 0 1 1
PGAP2 0 0 1 1
PHF14 0 0 1 1
PHF21A 0 1 0 1
PHIP 0 1 0 1
PIEZO2 0 0 1 1
PIK3R4 0 0 1 1
PLEC 0 0 1 1
PLEKHM2 0 0 1 1
PLIN1 0 0 1 1
PLP1, RAB9B 0 0 1 1
PLXNB3 0 0 1 1
PLXND1 0 0 1 1
PMP2 0 1 0 1
PNPLA3 0 1 0 1
POGLUT1 0 1 0 1
POLA1 0 0 1 1
POLD1 0 0 1 1
POLR1A 0 0 1 1
POT1 0 1 0 1
PPARG 0 0 1 1
PPFIA3 0 0 1 1
PPM1D 0 1 0 1
PPP1CB 0 0 1 1
PPP1R3F 0 0 1 1
PPP2R1A 0 0 1 1
PPP2R5D 0 1 0 1
PQBP1 0 0 1 1
PRDM16 0 0 1 1
PRKAG2 0 0 1 1
PROKR2 0 0 1 1
PSMB11 0 0 1 1
PSMC5 0 0 1 1
PSMD13 0 0 1 1
PTCH1 1 0 0 1
PTF1A 0 0 1 1
PTPN4 0 1 0 1
PTPRO 0 0 1 1
PTPRT 0 0 1 1
PUF60 0 1 0 1
PURA 1 0 0 1
PYGM 0 0 1 1
RAB5A 0 0 1 1
RAB5C 0 0 1 1
RAF1 0 0 1 1
RAI1 0 0 1 1
RANBP2 0 0 1 1
RARB 0 0 1 1
RASA2 0 0 1 1
REEP1 0 1 0 1
RERE 0 0 1 1
RET 0 1 0 1
REV3L 0 0 1 1
RFX7 0 0 1 1
RHEB 1 0 0 1
RHOBTB2 0 0 1 1
RLIM 0 0 1 1
RNASEH2B 1 0 0 1
RNU4-1, RNU4-2, SIRT4 1 0 0 1
ROBO4 0 0 1 1
ROR2 0 0 1 1
RORA 0 1 0 1
RRAS 0 0 1 1
SALL1 0 0 1 1
SATB1 0 0 1 1
SCAF4 1 0 0 1
SCN10A 0 0 1 1
SCN1B 0 0 1 1
SCN8A 0 0 1 1
SCUBE3 0 0 1 1
SDHA 0 0 1 1
SEMA6D 0 0 1 1
SERPINA1 1 0 0 1
SERPINC1 0 1 0 1
SESTD1 0 0 1 1
SETD1A 0 0 1 1
SETD1B 0 0 1 1
SFTPA2 0 0 1 1
SFTPC 0 0 1 1
SHANK1 0 0 1 1
SHANK3 1 0 0 1
SIK1 0 0 1 1
SLC17A8 0 0 1 1
SLC1A2 0 0 1 1
SLC35F1 0 0 1 1
SLC37A4 0 1 0 1
SLC4A10 0 0 1 1
SLITRK2 0 0 1 1
SMARCC2 0 0 1 1
SMC3 0 0 1 1
SON 0 0 1 1
SOS2 0 0 1 1
SOX1, SOX1-OT 0 0 1 1
SPG11 1 0 0 1
SPG21 1 0 0 1
SPI1 0 1 0 1
SPNS2 0 0 1 1
SPOP 0 0 1 1
SPRED1 0 0 1 1
SPTA1 1 0 0 1
SPTLC1 0 0 1 1
STAG1 0 0 1 1
STAG2 0 0 1 1
STAMBP 0 0 1 1
STAT5B 0 0 1 1
STEEP1 0 0 1 1
STRC 0 1 0 1
STX8 0 0 1 1
SYNCRIP 0 0 1 1
SYNE2 0 0 1 1
SYP 0 0 1 1
TAMM41 0 0 1 1
TAOK1 0 0 1 1
TBX1 0 0 1 1
TBX5 0 1 0 1
TBXT 0 0 1 1
TCF20 0 0 1 1
TCF4 1 0 0 1
TFAP2B 0 0 1 1
TG 0 0 1 1
TGFBR1 0 0 1 1
TGM1 1 0 0 1
THOC1 0 0 1 1
THRB 0 0 1 1
THSD1 0 0 1 1
TIAM1 0 0 1 1
TIE1 0 0 1 1
TINF2 0 0 1 1
TJP1 0 0 1 1
TLK2 0 0 1 1
TLR8 0 1 0 1
TMC1 1 0 0 1
TNNT2 0 0 1 1
TOP2B 0 0 1 1
TOR1AIP1 0 0 1 1
TP53 0 0 1 1
TP63 0 0 1 1
TRAPPC10 0 1 0 1
TRIM63 0 0 1 1
TRPC6 0 0 1 1
TRPM7 0 0 1 1
TTR 1 0 0 1
TUBB 0 1 0 1
UBA2 0 0 1 1
UBR5 0 0 1 1
UBXN7 0 0 1 1
UCP3 0 0 1 1
ULK2 0 0 1 1
UMPS 0 0 1 1
UNC79 0 0 1 1
UPF2 0 0 1 1
USH2A 0 0 1 1
USP9X 0 0 1 1
VAX2 0 0 1 1
VEGFC 0 0 1 1
VHL 1 0 0 1
WAC 1 0 0 1
WASF1 0 0 1 1
WBP11 0 0 1 1
WWP1 0 0 1 1
XRCC4 1 0 0 1
ZBTB17 0 0 1 1
ZBTB20 0 0 1 1
ZFHX3 0 0 1 1
ZFP57 0 0 1 1
ZFPM1 0 0 1 1
ZNF462 0 0 1 1
ZNF469 0 1 0 1
ZNF532 0 0 1 1
ZNF827 0 0 1 1
ZNF865 0 0 1 1
ZSWIM6 1 0 0 1

Condition and significance breakdown #

Total conditions: 822
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
not provided 7 0 151 158
Lymphatic malformation 6 0 2 61 63
Vascular malformation 23 24 2 49
PIK3CA related overgrowth syndrome 26 20 2 48
Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 30 30
Lymphatic malformation 9 0 0 29 29
Van Maldergem syndrome 1 0 0 23 23
Tuberous sclerosis 2 5 2 13 20
Hereditary lymphedema type I 0 0 19 19
Multiple cutaneous and mucosal venous malformations 6 3 10 19
Capillary malformation-arteriovenous malformation 1 5 5 8 18
Congenital hypothalamic hamartoma syndrome 0 0 16 16
Neurofibromatosis, type 1 7 0 9 16
Dilated cardiomyopathy 1G 0 6 7 13
Lymphedema-posterior choanal atresia syndrome 0 0 13 13
Isolated focal cortical dysplasia type II 6 1 5 12
Noonan syndrome 2; Noonan syndrome 10 1 0 11 12
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 12 12
Cerebral cavernous malformation 3 0 8 11
Glomuvenous malformation 4 3 4 11
Tuberous sclerosis 1 0 2 9 11
Capillary malformation-arteriovenous malformation 2 1 2 7 10
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 1 1 8 10
Hypertrophic cardiomyopathy 4 3 0 6 9
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 0 0 8 8
Upshaw-Schulman syndrome 0 1 7 8
Van Maldergem syndrome 2 0 0 8 8
Intellectual developmental disorder 61 1 0 6 7
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 7 7
Noonan syndrome 2 1 3 3 7
Epidermal nevus 4 1 1 6
Epilepsy, familial focal, with variable foci 1 1 0 5 6
Hypertrophic cardiomyopathy 9 0 0 6 6
Lymphatic malformation 7 0 1 5 6
Lymphedema 0 0 6 6
PTEN hamartoma tumor syndrome 3 0 3 6
Pseudopseudohypoparathyroidism 0 0 6 6
Alstrom syndrome 0 0 5 5
Arteriovenous malformation 3 2 0 5
Breast-ovarian cancer, familial, susceptibility to, 2 4 1 0 5
Cerebral cavernous malformation 2 0 0 5 5
Cerebral cavernous malformations 5 0 0 5 5
Developmental delay with or without dysmorphic facies and autism 0 0 5 5
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 0 5 5
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 5 5
Intellectual developmental disorder with autism and macrocephaly 0 0 5 5
Long QT syndrome 2 2 2 1 5
Malignant hyperthermia, susceptibility to, 1 2 2 1 5
McCune-Albright syndrome 2 0 3 5
Noonan syndrome 1 4 0 1 5
Polycystic kidney disease, adult type 3 0 2 5
Primary dilated cardiomyopathy 0 0 5 5
Telangiectasia, hereditary hemorrhagic, type 1 0 1 4 5
Beck-Fahrner syndrome 0 1 3 4
Breast-ovarian cancer, familial, susceptibility to, 1 4 0 0 4
Capillary infantile hemangioma 0 0 4 4
Capillary malformation 3 0 1 4
Cardioacrofacial dysplasia 1 0 0 4 4
Cardiofaciocutaneous syndrome 1 0 0 4 4
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 2 2 4
Combined immunodeficiency due to LRBA deficiency 0 0 4 4
D-2-hydroxyglutaric aciduria 2 0 0 4 4
Ichthyosis vulgaris 4 0 0 4
Imerslund-Grasbeck syndrome type 1 0 0 4 4
Immunodeficiency 14 0 0 4 4
Intellectual disability, X-linked syndromic, Turner type 0 0 4 4
KBG syndrome 3 0 1 4
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 0 4 4
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 0 4 4
Neurodegeneration, childhood-onset, with cerebellar atrophy 0 0 4 4
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 4 4
Noonan syndrome 4 0 1 3 4
Overgrowth syndrome 0 2 2 4
Pfeiffer syndrome 0 0 4 4
Type 2 diabetes mellitus 0 0 4 4
Vein of Galen aneurysmal malformation 0 0 4 4
Venous malformation 2 2 0 4
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 0 3 3
Aortic aneurysm, familial thoracic 7 0 0 3 3
Arrhythmogenic right ventricular dysplasia 8 0 1 2 3
Arrhythmogenic right ventricular dysplasia 9 1 1 1 3
Autosomal recessive congenital ichthyosis 4B 1 0 2 3
Becker nevus syndrome 2 1 0 3
Cardiofaciocutaneous syndrome 3 0 0 3 3
Carnitine palmitoyl transferase II deficiency, myopathic form 0 1 2 3
Chopra-Amiel-Gordon syndrome 0 1 2 3
Combined oxidative phosphorylation deficiency 55 0 0 3 3
Cornelia de Lange syndrome 1 0 0 3 3
Cowden syndrome 1 1 0 2 3
Curry-Jones syndrome 0 0 3 3
DNAH14-related neurodevelopmental disorder 0 0 3 3
Episodic ataxia type 2 1 1 1 3
FGFR2-related disorder 0 0 3 3
Familial multiple nevi flammei 2 1 0 3
Global developmental delay with speech and behavioral abnormalities 0 1 2 3
Glycogen storage disease, type II 2 1 0 3
Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 1 2 3
Heterotaxy, visceral, 8, autosomal 0 1 2 3
Hypercholesterolemia, familial, 1 2 1 0 3
Hypertrophic cardiomyopathy 1 0 2 1 3
Immunodeficiency, common variable, 2 2 0 1 3
Intellectual developmental disorder 62 0 1 2 3
Intellectual developmental disorder with dysmorphic facies and ptosis 2 0 1 3
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 0 0 3 3
Intellectual disability, X-linked 102 0 2 1 3
Intellectual disability, autosomal dominant 50 0 2 1 3
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 1 1 3
Kabuki syndrome 1 2 1 0 3
Keratosis follicularis 2 1 0 3
Linear nevus sebaceous syndrome 1 2 0 3
Long QT syndrome 1 2 0 1 3
Lymphatic malformation 3 0 0 3 3
Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2 1 1 1 3
Lynch syndrome 4 1 2 0 3
Maffucci syndrome 1 1 1 3
Marfan syndrome 0 1 2 3
Maturity-onset diabetes of the young type 1 0 1 2 3
Maturity-onset diabetes of the young type 8 0 0 3 3
Nephrotic syndrome, type 10 0 2 1 3
Nephrotic syndrome, type 3 0 0 3 3
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 1 2 3
Neurofibromatosis, type 2 1 0 2 3
Noonan syndrome 0 0 3 3
Noonan syndrome 10 0 2 1 3
Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 0 0 3 3
Noonan syndrome-like disorder with loose anagen hair 1 1 1 1 3
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B 2 1 0 3
Okur-Chung neurodevelopmental syndrome 0 2 1 3
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 1 0 2 3
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 2 3
PMM2-congenital disorder of glycosylation 2 0 1 3
Pan-Chung-Bellen syndrome 0 2 1 3
Primary ciliary dyskinesia 7 0 1 2 3
Progressive familial intrahepatic cholestasis type 3 1 0 2 3
Renal tubular dysgenesis of genetic origin 0 0 3 3
SHORT syndrome 0 0 3 3
Sotos syndrome 1 1 1 3
Sturge-Weber syndrome 2 1 0 3
Systemic lupus erythematosus 0 0 3 3
Tufted angioma of skin 0 0 3 3
Van Maldergem syndrome 1; Mitral valve prolapse, myxomatous 2 0 0 3 3
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 3 3
Wiedemann-Steiner syndrome 2 0 1 3
ANK3-related disorder 0 0 2 2
APOL1-associated kidney disease 0 0 2 2
Adult hypophosphatasia; Childhood hypophosphatasia 1 1 0 2
Agammaglobulinemia 8, autosomal dominant; Agammaglobulinemia 8b, autosomal recessive 0 0 2 2
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 2 2
Arrhythmogenic right ventricular dysplasia 10 0 2 0 2
Ataxia-telangiectasia syndrome 0 0 2 2
Atrial conduction disease 0 0 2 2
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 0 0 2 2
Au-Kline syndrome 0 0 2 2
Autism 0 0 2 2
Autism, susceptibility to, 17 0 1 1 2
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 2 2
Autosomal dominant Parkinson disease 8 1 0 1 2
Autosomal recessive Alport syndrome 0 0 2 2
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 0 2 2
Autosomal recessive congenital ichthyosis 3 1 1 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 1 0 1 2
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 0 1 2
Basal cell carcinoma, susceptibility to, 1 2 0 0 2
Beckwith-Wiedemann syndrome; IMAGe syndrome 0 0 2 2
Brugada syndrome 1 1 1 0 2
CHARGE syndrome 0 1 1 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 2 2
Catecholaminergic polymorphic ventricular tachycardia 1 2 0 0 2
Cerebral arteriovenous malformation 2 0 0 2
Chilton-Okur-Chung neurodevelopmental syndrome 0 1 1 2
Ciliary dyskinesia, primary, 46 0 0 2 2
Clark-Baraitser syndrome 0 0 2 2
Coffin-Siris syndrome 12 0 0 2 2
Complex cortical dysplasia with other brain malformations 1 0 2 0 2
Complex neurodevelopmental disorder 0 1 1 2
Congenital disorder of glycosylation type 1EE with or without immunodeficiency 0 0 2 2
Congenital heart defect 0 0 2 2
Congenital heart disease 0 0 2 2
Congenital myasthenic syndrome 8 0 0 2 2
Cystic fibrosis 1 0 1 2
Deafness-lymphedema-leukemia syndrome 0 0 2 2
Deficiency of ferroxidase 0 0 2 2
Delpire-McNeill syndrome 0 0 2 2
Developmental and epileptic encephalopathy 94 1 0 1 2
Developmental and epileptic encephalopathy, 32 0 0 2 2
Developmental and epileptic encephalopathy, 5 0 1 1 2
Developmental and epileptic encephalopathy, 81 0 0 2 2
Developmental delay with variable intellectual disability and dysmorphic facies 0 0 2 2
Developmental delay, impaired speech, and behavioral abnormalities; Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 2 2
Diets-Jongmans syndrome 0 0 2 2
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 0 1 1 2
Distichiasis-lymphedema syndrome 0 0 2 2
Donnai-Barrow syndrome 0 1 1 2
Dworschak-Punetha neurodevelopmental syndrome 0 0 2 2
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 0 0 2 2
Ehlers-Danlos syndrome, classic type, 1 0 0 2 2
Enchondromatosis; Maffucci syndrome 0 0 2 2
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 0 0 2 2
Epidermolytic nevus 1 0 1 2
Extracranial arteriovenous malformation 2 0 0 2
Familial Mediterranean fever 0 0 2 2
Familial adenomatous polyposis 1 2 0 0 2
Familial benign pemphigus 0 0 2 2
Fanconi anemia, complementation group S 2 0 0 2
Fanconi renotubular syndrome 3 0 0 2 2
Focal segmental glomerulosclerosis 5 0 0 2 2
Focal segmental glomerulosclerosis 9 0 0 2 2
Hereditary breast ovarian cancer syndrome 1 1 0 2
Heterotaxy, visceral, 7, autosomal 0 0 2 2
Hyperphosphatasia with intellectual disability syndrome 5 0 1 1 2
Hypertrophic cardiomyopathy 26 0 0 2 2
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0 0 2 2
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome 0 0 2 2
Inherited obesity 0 0 2 2
Intellectual developmental disorder, autosomal dominant 67 0 0 2 2
Intellectual disability, X-linked 1 0 0 2 2
Intellectual disability, autosomal dominant 1 0 0 2 2
Intellectual disability, autosomal dominant 46 0 0 2 2
Intellectual disability, autosomal dominant 5 0 0 2 2
Intellectual disability, autosomal dominant 52 0 0 2 2
Intellectual disability, autosomal dominant 56 0 1 1 2
Joubert syndrome 9 0 0 2 2
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 0 2 2
Kleefstra syndrome 1 0 1 1 2
Kleefstra syndrome 2 0 0 2 2
Koolen-de Vries syndrome 0 0 2 2
LAMA2-related muscular dystrophy 0 0 2 2
Large congenital melanocytic nevus 0 2 0 2
Lethal congenital contracture syndrome 8 0 0 2 2
Lymphangiomyomatosis 0 0 2 2
Lynch syndrome 1 1 1 0 2
MYCBP2-related developmental delay with corpus callosum defects 0 0 2 2
Macrocephaly-autism syndrome 1 0 1 2
Marshall syndrome; Stickler syndrome type 2 0 1 1 2
Maturity-onset diabetes of the young type 2 1 1 0 2
Maturity-onset diabetes of the young type 3 0 0 2 2
Menkes kinky-hair syndrome 1 0 1 2
Metaphyseal chondrodysplasia, Schmid type 0 0 2 2
Microcephaly 18, primary, autosomal dominant 1 1 0 2
Microcephaly, short stature, and impaired glucose metabolism 1 0 0 2 2
Myofibromatosis, infantile, 1 1 0 1 2
Nephronophthisis 12 0 0 2 2
Nephrotic syndrome 0 0 2 2
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 0 0 2 2
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 1 1 0 2
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 0 2 2
Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities 0 0 2 2
Neuropathy, hereditary motor and sensory, type 6B; Pontocerebellar hypoplasia, type 1E 2 0 0 2
O'Donnell-Luria-Rodan syndrome 0 1 1 2
Ornithine carbamoyltransferase deficiency 1 1 0 2
Parenti-mignot neurodevelopmental syndrome 0 0 2 2
Periventricular nodular heterotopia 7 0 0 2 2
Polyglandular autoimmune syndrome, type 1 0 0 2 2
Primary ciliary dyskinesia 3 0 0 2 2
Primary intraosseous venous malformation 0 0 2 2
Proteus syndrome 1 0 1 2
Pyruvate kinase deficiency of red cells 0 0 2 2
Radio-Tartaglia syndrome 0 2 0 2
Schaaf-Yang syndrome 0 1 1 2
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 0 0 2 2
Severe intellectual disability-progressive spastic diplegia syndrome 0 0 2 2
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 1 0 1 2
Smith-Lemli-Opitz syndrome 2 0 0 2
Treacher Collins syndrome 1 0 1 1 2
Tyrosinase-positive oculocutaneous albinism 2 0 0 2
Vein of Galen arteriovenous malformations 0 0 2 2
Verrucous hemangioma 0 1 1 2
Weill-Marchesani syndrome 1 0 0 2 2
Wolfram syndrome 1 0 1 1 2
Yoon-Bellen neurodevelopmental syndrome 0 0 2 2
13q12.3 microdeletion 0 0 1 1
2-aminoadipic 2-oxoadipic aciduria 0 1 0 1
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 1 0 0 1
8q24.3 microdeletion syndrome 0 1 0 1
ACCES syndrome 0 0 1 1
ACTB Haploinsufficiency syndrome 0 1 0 1
ALG12-congenital disorder of glycosylation 0 0 1 1
ANKS1B-related neurodevelopmental disorder 0 0 1 1
ARAF-related disorder 0 0 1 1
Aarskog syndrome 0 1 0 1
Achondroplasia 1 0 0 1
Acrocephalosyndactyly type I 0 0 1 1
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Pfeiffer syndrome; Crouzon syndrome 0 0 1 1
Acrodysostosis 2 with or without hormone resistance 0 0 1 1
Acromelic frontonasal dysostosis 1 0 0 1
Acute intermittent porphyria; Leukoencephalopathy, porphyria-related 0 0 1 1
Adams-Oliver syndrome 2 0 0 1 1
Adams-Oliver syndrome 6 0 1 0 1
Agammaglobulinemia 10, autosomal dominant 0 1 0 1
Aicardi-Goutieres syndrome 2 1 0 0 1
Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 0 0 1 1
Aland island eye disease; X-linked cone-rod dystrophy 3; Congenital stationary night blindness 2A 0 0 1 1
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 1 1
Alexander disease 0 0 1 1
Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 1 1
Alpha-1-antitrypsin deficiency 1 0 0 1
Alport syndrome 3b, autosomal recessive 0 0 1 1
Alternating hemiplegia of childhood 2 0 0 1 1
Alveolar capillary dysplasia with pulmonary venous misalignment 1 0 0 1
Amyloidosis, hereditary systemic 1 1 0 0 1
Amyotrophic lateral sclerosis 27, juvenile 0 0 1 1
Amyotrophic lateral sclerosis type 1; Charcot-Marie-Tooth disease axonal type 2CC 0 0 1 1
Aneurysm-osteoarthritis syndrome 0 0 1 1
Ankyloblepharon filiforme adnatum-cleft palate syndrome 0 0 1 1
Aortic aneurysm, familial thoracic 4 0 0 1 1
Aortic aneurysm, familial thoracic 6 0 1 0 1
Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 0 0 1 1
Aortic valve disease 1; Adams-Oliver syndrome 5 0 1 0 1
Aortic valve disease 2 0 0 1 1
Aortic valve disease 3 0 0 1 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 0 0 1 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch 0 0 1 1
Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4 0 0 1 1
Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 0 0 1 1
Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency; C3 glomerulonephritis 0 1 0 1
Atypical hemolytic-uremic syndrome with DGKE deficiency 0 0 1 1
Atypical hemolytic-uremic syndrome with I factor anomaly 0 0 1 1
Autism; Seizures, benign familial infantile, 3; Episodic ataxia, type 9; Developmental and epileptic encephalopathy, 76 0 0 1 1
Autoimmune interstitial lung disease-arthritis syndrome 0 0 1 1
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 0 0 1 1
Autoinflammatory syndrome with immunodeficiency 0 0 1 1
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome 0 1 0 1
Autosomal dominant Robinow syndrome 2 0 0 1 1
Autosomal dominant auditory neuropathy 1 0 0 1 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O 0 0 1 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Intellectual disability, autosomal dominant 13 0 0 1 1
Autosomal dominant deafness - onychodystrophy syndrome 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 25 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 28 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 68 0 0 1 1
Autosomal dominant omodysplasia 0 0 1 1
Autosomal dominant polycystic kidney disease 0 0 1 1
Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 0 1 0 1
Autosomal recessive Robinow syndrome 0 0 1 1
Autosomal recessive congenital ichthyosis 1 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2R1 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2Y 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 16 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 18B 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 39 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 7 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 84B 0 1 0 1
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0 0 1 1
BAZ2B-associated neurodevelopmental disorder 0 0 1 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 0 0 1 1
Baraitser-Winter syndrome 1 0 0 1 1
Bardet-Biedl syndrome 1 1 0 0 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 1 1
Beckwith-Wiedemann syndrome 0 0 1 1
Bethlem myopathy 2 0 0 1 1
Brain abnormalities, neurodegeneration, and dysosteosclerosis; Leukoencephalopathy, diffuse hereditary, with spheroids 1 0 0 1 1
Brain small vessel disease 2A, autosomal dominant 0 0 1 1
Brain-lung-thyroid syndrome 1 0 0 1
Branchiootorenal syndrome 1 0 0 1 1
Brittle cornea syndrome 1 0 1 0 1
Brugada syndrome 1; Long QT syndrome 3; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10 0 1 0 1
Brugada syndrome 5 0 0 1 1
Brunner syndrome 0 1 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 1 0 0 1 1
C3 glomerulonephritis 0 0 1 1
CARASIL syndrome; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 1 0 0 1
CFHR5 deficiency 0 0 1 1
COG1 congenital disorder of glycosylation 0 0 1 1
COG7 congenital disorder of glycosylation 0 1 0 1
COL4A2-related cerebral small vessel disease 0 0 1 1
CRMP1-related neurodevelopmental disorder 0 0 1 1
CTNNB1-related disorder 1 0 0 1
CTR9-related neurodevelopmental disorder 0 0 1 1
Carcinoma of colon 0 0 1 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 1 0 0 1
Cardiac valvular dysplasia 2 0 0 1 1
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 0 0 1 1
Cardiofaciocutaneous syndrome 4 0 0 1 1
Cardiomyopathy, familial hypertrophic, 28 0 0 1 1
Cardiospondylocarpofacial syndrome; Frontometaphyseal dysplasia 2 0 0 1 1
Catecholaminergic polymorphic ventricular tachycardia 2 0 0 1 1
Cerebellar atrophy, visual impairment, and psychomotor retardation; 0 1 0 1
Ceroid lipofuscinosis, neuronal, 6A 0 1 0 1
Char syndrome 0 0 1 1
Charcot-Marie-Tooth Disease, axonal, type 2GG; Charcot-Marie-Tooth disease, dominant intermediate A 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2P 0 0 1 1
Charcot-Marie-Tooth disease type 4B1 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1G 0 1 0 1
Charcot-Marie-tooth disease, axonal, type 2DD; Hypomagnesemia, seizures, and intellectual disability 2 0 0 1 1
Chronic infantile neurological, cutaneous and articular syndrome 0 0 1 1
Chédiak-Higashi syndrome 1 0 0 1
Ciliary dyskinesia, primary, 49, without situs inversus 0 1 0 1
Classic homocystinuria 0 0 1 1
Cobalamin C disease 1 0 0 1
Coenzyme Q10 deficiency, primary, 1 0 0 1 1
Coffin-Siris syndrome 1 1 0 0 1
Coffin-Siris syndrome 8 0 0 1 1
Colorectal cancer 1 0 0 1
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome 0 0 1 1
Combined oxidative phosphorylation defect type 24; Hearing loss, autosomal recessive 94 0 1 0 1
Combined oxidative phosphorylation deficiency 56 0 0 1 1
Complex cortical dysplasia with other brain malformations 6 0 1 0 1
Congenital factor VII deficiency 1 0 0 1
Congenital fibrosis of extraocular muscles type 1 1 0 0 1
Congenital heart defects and skeletal malformations syndrome 0 0 1 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 0 1 1
Congenital heart defects, multiple types, 9 0 0 1 1
Congenital long QT syndrome 0 0 1 1
Congenital myopathy 0 1 0 1
Congenital stationary night blindness 1A 1 0 0 1
Congenital stationary night blindness 2A 1 0 0 1
Conotruncal heart malformations 0 0 1 1
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 0 1 0 1
Corneal dystrophy, lattice type 3A; Thiel-Behnke corneal dystrophy; Reis-Bucklers' corneal dystrophy; Avellino corneal dystrophy; Epithelial basement membrane dystrophy; Lattice corneal dystrophy Type I; Groenouw corneal dystrophy type I 0 0 1 1
Cornelia de Lange syndrome 3 0 0 1 1
Cortical dysplasia, complex, with other brain malformations 11 0 0 1 1
Craniosynostosis 7 0 0 1 1
Cyclical neutropenia 0 0 1 1
DENND5B-related neurodevelopmental disorder 0 0 1 1
DIP2C-related neurodevelopmental disorder 0 1 0 1
DK1-congenital disorder of glycosylation 0 0 1 1
DNA ligase IV deficiency 0 0 1 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 1
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 1 0 1
Deficiency of 3-hydroxyacyl-CoA dehydrogenase 0 0 1 1
Deficiency of adenosine deaminase 2 0 1 0 1
Deficiency of guanidinoacetate methyltransferase 0 1 0 1
Deficiency of isobutyryl-CoA dehydrogenase 0 1 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6 0 0 1 1
Dermatofibrosis lenticularis disseminata 0 1 0 1
Desmoid disease, hereditary 0 1 0 1
Developmental and epileptic encephalopathy 96 0 0 1 1
Developmental and epileptic encephalopathy 98 0 1 0 1
Developmental and epileptic encephalopathy, 1 0 0 1 1
Developmental and epileptic encephalopathy, 13 0 0 1 1
Developmental and epileptic encephalopathy, 30 0 0 1 1
Developmental and epileptic encephalopathy, 41 0 0 1 1
Developmental and epileptic encephalopathy, 43 1 0 0 1
Developmental and epileptic encephalopathy, 54 1 0 0 1
Developmental and epileptic encephalopathy, 64 0 0 1 1
Developmental and epileptic encephalopathy, 69 0 0 1 1
Developmental delay with autism spectrum disorder and gait instability 0 0 1 1
Developmental delay with dysmorphic facies and dental anomalies; Kohlschutter-Tonz syndrome-like 0 0 1 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 0 1 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 0 1 1
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 1 1
Diabetes mellitus, transient neonatal, 1 0 0 1 1
Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 0 0 1 1
Diabetes mellitus, transient neonatal, 3; Diabetes mellitus, permanent neonatal 2 1 0 0 1
Dias-Logan syndrome 0 0 1 1
Dihydropyrimidinase deficiency 1 0 0 1
Dihydropyrimidine dehydrogenase deficiency 0 1 0 1
Dilated cardiomyopathy 1A 1 0 0 1
Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 0 0 1 1
Dilated cardiomyopathy 1D 0 0 1 1
Dilated cardiomyopathy 1E 0 0 1 1
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3 0 0 1 1
Dilated cardiomyopathy 3B 0 0 1 1
Dominant beta-thalassemia 1 0 0 1
Dyskeratosis congenita, autosomal dominant 2 0 1 0 1
Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 0 1 1
Dyskeratosis congenita, autosomal dominant 3 0 0 1 1
Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68 0 0 1 1
EFNB2-related neurodevelopmental disorder 0 0 1 1
Ebstein anomaly 0 0 1 1
Ectodermal dysplasia 4, hair/nail type 0 0 1 1
Ehlers-Danlos syndrome, arthrochalasia type 0 0 1 1
Ehlers-Danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0 0 1 1
Ehlers-Danlos syndrome, classic-like, 2 0 0 1 1
Elliptocytosis 2; Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3 1 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 1
Encephalocraniocutaneous lipomatosis 1 0 0 1
Epidermolysis bullosa simplex 1A, generalized severe; Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex 1C, localized 1 0 0 1
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 1 1
Epidermolysis bullosa, junctional 5A, intermediate 0 0 1 1
Epidermolytic hyperkeratosis 1 0 0 1 1
Epidermolytic hyperkeratosis 2A, autosomal dominant 1 0 0 1
Epilepsy 0 0 1 1
Epilepsy, early-onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 1 1
Epilepsy, idiopathic generalized, susceptibility to, 10 0 0 1 1
Epilepsy, idiopathic generalized, susceptibility to, 5 0 0 1 1
Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4 0 0 1 1
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 0 1 0 1
Episodic pain syndrome, familial, 2 0 0 1 1
Exostoses, multiple, type 1 1 0 0 1
FOXP4-related neurodevelopmental disorder 0 0 1 1
FRAXE 0 0 1 1
Familial acute necrotizing encephalopathy 0 0 1 1
Familial cold autoinflammatory syndrome 2 0 0 1 1
Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 1 1
Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypocalcemia 2 0 0 1 1
Familial partial lipodystrophy, Dunnigan type 0 0 1 1
Familial thoracic aortic aneurysm and aortic dissection 0 1 0 1
Feingold syndrome type 1 0 1 0 1
Fliedner-Zweier syndrome 1 0 0 1
Focal segmental glomerulosclerosis 1 0 0 1 1
Focal segmental glomerulosclerosis 2 0 0 1 1
Focal segmental glomerulosclerosis 8 0 0 1 1
GNA14-related congenital vascular tumors 0 0 1 1
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 0 0 1 1
Generalized epilepsy with febrile seizures plus, type 2 0 0 1 1
Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 0 0 1 1
Glucocorticoid deficiency 5 0 0 1 1
Glycine N-methyltransferase deficiency 0 0 1 1
Glycogen storage disease type III 0 0 1 1
Glycogen storage disease, type V 0 0 1 1
Glycosylphosphatidylinositol biosynthesis defect 15 0 0 1 1
Greig cephalopolysyndactyly syndrome 0 1 0 1
Groenouw corneal dystrophy type I 0 0 1 1
Growth hormone insensitivity syndrome with immune dysregulation 0 0 1 1
Hearing loss, autosomal dominant 86 0 0 1 1
Hearing loss, autosomal recessive 115 0 0 1 1
Hemochromatosis type 1 1 0 0 1
Hepatic steatosis 0 1 0 1
Hereditary antithrombin deficiency 0 1 0 1
Hereditary attention deficit-hyperactivity disorder 0 0 1 1
Hereditary coproporphyria 0 1 0 1
Hereditary factor XI deficiency disease 1 0 0 1
Hereditary hemorrhagic telangiectasia 0 0 1 1
Hereditary orotic aciduria 0 0 1 1
Hereditary spastic paraplegia 11 1 0 0 1
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9; Spastic paraplegia 30B, autosomal recessive 0 0 1 1
Hereditary spastic paraplegia 31 0 1 0 1
Heterotaxy, visceral, 5, autosomal 0 0 1 1
Heyn-Sproul-Jackson syndrome 0 0 1 1
Holoprosencephaly 10 0 0 1 1
Holoprosencephaly 3 0 1 0 1
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 1 0 1
Holt-Oram syndrome 0 1 0 1
Houge-Janssens syndrome 1 0 1 0 1
Houge-Janssens syndrome 2 0 0 1 1
Hurler syndrome 1 0 0 1
Hyper-IgE recurrent infection syndrome 4, autosomal recessive; Stuve-Wiedemann syndrome 2; Hyper-IgE recurrent infection syndrome 4A, autosomal dominant 0 0 1 1
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 0 1 0 1
Hyperinsulinemic hypoglycemia, familial, 1 1 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1; Type 2 diabetes mellitus 0 0 1 1
Hyperinsulinism due to INSR deficiency 0 0 1 1
Hyperlipoproteinemia, type I 0 0 1 1
Hyperphosphatasia with intellectual disability syndrome 3 0 0 1 1
Hypertrophic cardiomyopathy 0 0 1 1
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 0 1 0 1
Hypertrophic cardiomyopathy 6; Wolff-Parkinson-White pattern 0 0 1 1
Hypogonadotropic hypogonadism 14 with or without anosmia; Intellectual developmental disorder, autosomal recessive 78 0 0 1 1
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome 0 0 1 1
Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 0 0 1 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 1 1
Hypoinsulinemic hypoglycemia and body hemihypertrophy 0 0 1 1
Hypomyelinating leukodystrophy 4; Hereditary spastic paraplegia 13 0 0 1 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1; Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 1 1
Hypotrichosis-lymphedema-telangiectasia syndrome 0 0 1 1
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 0 0 1 1
ITSN1-related neurodevelopmental disorders 0 0 1 1
Ichthyosis 0 0 1 1
Ichthyosis bullosa of Siemens 1 0 0 1
Immunodeficiency 11b with atopic dermatitis 0 0 1 1
Immunodeficiency 14b, autosomal recessive 0 0 1 1
Immunodeficiency 37 0 0 1 1
Immunodeficiency 95 0 0 1 1
Immunodeficiency 98 with autoinflammation, X-linked 0 1 0 1
Immunodeficiency due to MASP-2 deficiency 0 0 1 1
Immunoglobulin-mediated membranoproliferative glomerulonephritis 0 1 0 1
Infantile nephronophthisis 0 0 1 1
Infantile-onset generalized dyskinesia with orofacial involvement; Striatal degeneration, autosomal dominant 2 0 0 1 1
Influenza, severe, susceptibility to 0 0 1 1
Inherited neurodegenerative disorder 0 0 1 1
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0 1 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 1 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 0 1 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 1 0 1
Intellectual developmental disorder with seizures and language delay 0 0 1 1
Intellectual developmental disorder, X-linked 111 0 0 1 1
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 1 1
Intellectual developmental disorder, autosomal dominant 65 0 1 0 1
Intellectual developmental disorder, autosomal dominant 68 0 0 1 1
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0 0 1 1
Intellectual developmental disorder, autosomal recessive 67 1 0 0 1
Intellectual disability 0 0 1 1
Intellectual disability, X-linked 100 0 0 1 1
Intellectual disability, X-linked 103 0 0 1 1
Intellectual disability, X-linked 107 0 0 1 1
Intellectual disability, X-linked 30 0 0 1 1
Intellectual disability, X-linked 61 0 0 1 1
Intellectual disability, X-linked 93 0 1 0 1
Intellectual disability, X-linked 96 0 0 1 1
Intellectual disability, X-linked 99, syndromic, female-restricted 0 0 1 1
Intellectual disability, autosomal dominant 24 0 0 1 1
Intellectual disability, autosomal dominant 24; Intellectual disability-epilepsy-extrapyramidal syndrome 0 0 1 1
Intellectual disability, autosomal dominant 39 1 0 0 1
Intellectual disability, autosomal dominant 42 0 0 1 1
Intellectual disability, autosomal dominant 47 0 0 1 1
Intellectual disability, autosomal dominant 57 0 0 1 1
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 0 0 1 1
Intellectual disability, autosomal dominant 9 0 0 1 1
Intellectual disability, autosomal recessive 65 0 1 0 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 1 1
Intellectual disability-strabismus syndrome 0 0 1 1
Interstitial lung disease 2 0 0 1 1
Intramuscular hemangioma 0 1 0 1
Iodotyrosyl coupling defect 0 0 1 1
Isolated hyperchlorhidrosis 1 0 0 1
Juvenile myelomonocytic leukemia 0 1 0 1
KAT6B-related multiple congenital anomalies syndrome 0 0 1 1
KCNA3-related neurodevelopmental disorder 0 0 1 1
KCND2-related neurodevelopmental disorder 0 0 1 1
KIF5B-related disease 0 0 1 1
KRIT1-related disorder 0 0 1 1
LIPE-related familial partial lipodystrophy 0 0 1 1
Laron-type isolated somatotropin defect; Short stature due to partial GHR deficiency 0 0 1 1
Lateral meningocele syndrome 1 0 0 1
Leber congenital amaurosis 1 0 0 1 1
Leber congenital amaurosis 9 0 1 0 1
Left ventricular noncompaction 1 0 0 1 1
Left ventricular noncompaction 8 0 0 1 1
Legius syndrome 0 0 1 1
Leukodystrophy, hypomyelinating, 27 0 0 1 1
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 1 0 0 1
Lewy body dementia; Parkinson disease, late-onset 0 1 0 1
Li-Ghorbani-Weisz-Hubshman syndrome 0 0 1 1
Lissencephaly type 1 due to doublecortin gene mutation 0 0 1 1
Loeys-Dietz syndrome 1 0 0 1 1
Long QT syndrome 0 0 1 1
Long QT syndrome 11 0 0 1 1
Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1 0 1 0 1
Lymphatic anomaly 0 0 1 1
Lymphatic malformation 13 0 0 1 1
Lymphatic malformation 4 0 0 1 1
Lynch syndrome 5 0 1 0 1
MYH10-related neurodevelopmental disorder 0 0 1 1
Macrocephaly, acquired, with impaired intellectual development 0 1 0 1
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 1 0 1
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 1 0 1
Malignant hyperthermia, susceptibility to, 5 1 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 0 1 0 1
Marfan syndrome; Progeroid and marfanoid aspect-lipodystrophy syndrome 0 0 1 1
Mast syndrome 1 0 0 1
Maturity-onset diabetes of the young type 14 0 0 1 1
Maturity-onset diabetes of the young type 4 1 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 0 1 1
Microcephaly 27, primary, autosomal dominant 0 0 1 1
Microcephaly-capillary malformation syndrome 0 0 1 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 1 1
Microphthalmia, syndromic 12 0 0 1 1
Migraine, familial hemiplegic, 2; Developmental and epileptic encephalopathy 98 0 0 1 1
Mirror movements 1 0 1 0 1
Mucopolysaccharidosis, MPS-III-B 0 1 0 1
Mullegama-Klein-Martinez syndrome 0 0 1 1
Multiple cutaneous and mucosal venous malformations; Glaucoma 3, primary congenital, E 0 0 1 1
Myofibrillar myopathy 5 1 0 0 1
Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26 0 0 1 1
Myopathy, epilepsy, and progressive cerebral atrophy 0 0 1 1
NEK9-related lethal skeletal dysplasia 0 0 1 1
Naxos disease; Arrhythmogenic right ventricular dysplasia 12 0 0 1 1
Neonatal diabetes mellitus with congenital hypothyroidism 0 0 1 1
Nephrotic syndrome 16 0 0 1 1
Nephrotic syndrome, type 13 0 0 1 1
Nephrotic syndrome, type 6 0 0 1 1
Nephrotic syndrome, type 9 0 0 1 1
Neural tube defects, susceptibility to; Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 0 0 1 1
Neurodevelopmental disorder with absent language and variable seizures 0 0 1 1
Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0 0 1 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 1 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 1 0 1
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 1 1
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 1 0 1
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 0 0 1 1
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities 0 0 1 1
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 1 0 0 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0 0 1 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 1 1
Neurodevelopmental disorder with language delay and seizures 0 0 1 1
Neurodevelopmental disorder with language delay and variable cognitive abnormalities 0 0 1 1
Neurodevelopmental disorder with microcephaly and dysmorphic facies 0 0 1 1
Neurodevelopmental disorder with microcephaly, short stature, and speech delay 0 1 0 1
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 0 1 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 1 1
Neurodevelopmental disorder with poor language and loss of hand skills; Developmental and epileptic encephalopathy, 59 0 0 1 1
Neurodevelopmental disorder with severe motor impairment and absent language 0 0 1 1
Neurodevelopmental, jaw, eye, and digital syndrome 0 0 1 1
Neuropathy, congenital hypomyelinating, 3 0 0 1 1
Nizon-Isidor syndrome 0 0 1 1
Nonsyndromic Deafness 0 0 1 1
Noonan syndrome 9 0 0 1 1
Noonan syndrome-like disorder with loose anagen hair 2 0 0 1 1
Norman-Roberts syndrome 0 0 1 1
Nystagmus 1, congenital, X-linked 0 1 0 1
Obesity 0 0 1 1
Oculotrichoanal syndrome; BNAR syndrome 0 1 0 1
Odonto-onycho-dermal dysplasia 0 0 1 1
Ogden syndrome 0 1 0 1
Orofaciodigital syndrome I 0 0 1 1
Osteogenesis imperfecta with normal sclerae, dominant form 1 0 0 1
Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II 0 0 1 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive 0 0 1 1
Overgrowth syndrome and/or cerebral malformations 0 0 1 1
PIK3CA-Related Overgrowth Spectrum Disorders 1 0 0 1
PIK3CA-related disorder 0 0 1 1
PLIN1-related familial partial lipodystrophy 0 0 1 1
PLXNA3-related neurodevelopmental disorder 0 0 1 1
PPARG-related familial partial lipodystrophy; Type 2 diabetes mellitus 0 0 1 1
PPP1R3F Associated Neurodevelopmental Disorder 0 0 1 1
PSMC5-related neurodevelopmental disorder 0 0 1 1
PTPN4-related aberrant neurodevelopment and growth 0 1 0 1
PTPRT-associated neurodevelopmental disorder 0 0 1 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 1
Palmoplantar keratoderma, epidermolytic, 2 0 0 1 1
Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 1 0 0 1
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0 0 1 1
Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2 0 0 1 1
Periventricular nodular heterotopia 9 0 0 1 1
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome; Pancreatic agenesis 2 0 0 1 1
Peroxisome biogenesis disorder 1A (Zellweger) 1 0 0 1
Pfeiffer syndrome type 1 0 0 1 1
Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis 0 0 1 1
Phelan-McDermid syndrome 1 0 0 1
Pheochromocytoma; Familial medullary thyroid carcinoma 0 1 0 1
Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 0 1 0 1
Piebaldism 0 0 1 1
Pierpont syndrome; Intellectual disability, autosomal dominant 41 0 1 0 1
Pilarowski-Bjornsson syndrome 0 0 1 1
Pitt-Hopkins syndrome 1 0 0 1
Pityriasis rubra pilaris; Psoriasis 2 0 0 1 1
Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 1 0 0 1 1
Poirier-Bienvenu neurodevelopmental syndrome 0 0 1 1
Polycystic kidney disease 9, susceptibility to 0 1 0 1
Porokeratosis 7, multiple types 0 0 1 1
Porokeratotic adnexal ostial nevus 1 0 0 1
Primary erythromelalgia 0 0 1 1
Primary familial dilated cardiomyopathy 0 0 1 1
Primary hyperoxaluria type 3 1 0 0 1
Primrose syndrome 0 0 1 1
Progressive myoclonic epilepsy type 7 0 0 1 1
Proteinuria, chronic benign 0 0 1 1
Pseudohypoparathyroidism type 1B 0 0 1 1
Pseudohypoparathyroidism type 1B; Pseudohypoparathyroidism type I A 0 0 1 1
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A 0 0 1 1
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A 0 1 0 1
Pseudohypoparathyroidism type I A 0 0 1 1
Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A 0 0 1 1
Ptosis, hereditary congenital, 1 0 0 1 1
Pulmonary hypertension, primary, 5 0 0 1 1
Pyogenic granuloma 0 1 0 1
Pyridoxine-dependent epilepsy 1 0 0 1
RAB5C-related neurodevelopmental disorder 0 0 1 1
Rauch-Steindl syndrome 0 1 0 1
Renal-hepatic-pancreatic dysplasia 2 0 0 1 1
Renpenning syndrome 0 0 1 1
Rhabdomyolysis, susceptibility to, 1 0 0 1 1
Right atrial isomerism; Congenital heart defects, multiple types, 6 0 1 0 1
Roberts-SC phocomelia syndrome; Juberg-Hayward syndrome 1 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Menke-Hennekam syndrome 2 0 0 1 1
SCN9A-related neuropathic pain syndromes 0 0 1 1
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth 0 0 1 1
SHORT syndrome; Immunodeficiency 36 with lymphoproliferation 0 0 1 1
SHOX-related short stature 0 0 1 1
SYNCRIP-related neurodevelopmental disorder 0 0 1 1
Schuurs-Hoeijmakers syndrome 0 0 1 1
Seizures, benign familial infantile, 3 0 0 1 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 1
Severe myoclonic epilepsy in infancy 0 1 0 1
Severe myoclonic epilepsy in infancy; Developmental and epileptic encephalopathy 6B 0 0 1 1
Short stature due to growth hormone secretagogue receptor deficiency 0 0 1 1
Short stature with nonspecific skeletal abnormalities 0 0 1 1
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 0 0 1 1
Short stature, microcephaly, and endocrine dysfunction 1 0 0 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 0 1 1
Sifrim-Hitz-Weiss syndrome 0 0 1 1
Silver-Russell syndrome 3 0 0 1 1
Smith-Magenis syndrome 0 0 1 1
Snijders Blok-Campeau syndrome 0 0 1 1
Snowflake vitreoretinal degeneration; Leber congenital amaurosis 16 0 0 1 1
Solitary median maxillary central incisor syndrome 0 0 1 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 1 0 1
Spermatogenic failure 46 0 0 1 1
Spinocerebellar ataxia 48 0 0 1 1
Spinocerebellar ataxia type 29 0 0 1 1
Stickler syndrome type 1 1 0 0 1
Stickler syndrome, type 5 1 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 1 0 0 1
Supravalvar aortic stenosis 1 0 0 1
Surfactant metabolism dysfunction, pulmonary, 2 0 0 1 1
Surfactant metabolism dysfunction, pulmonary, 5 0 0 1 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 0 1 1
Synpolydactyly 0 0 1 1
TRPM7-associated neuropathological disorder 0 0 1 1
Tatton-Brown-Rahman overgrowth syndrome 0 0 1 1
Telangiectasia, hereditary hemorrhagic, type 5 0 0 1 1
Thrombomodulin-related bleeding disorder 0 0 1 1
Thyroid hormone resistance, generalized, autosomal dominant; Thyroid hormone resistance, generalized, autosomal recessive 0 0 1 1
Tooth agenesis, selective, 4 1 0 0 1
Townes-Brocks syndrome 1 0 0 1 1
Tuberous sclerosis syndrome 0 0 1 1
Tumor predisposition syndrome 3 0 1 0 1
Turnpenny-fry syndrome 0 0 1 1
Type A2 brachydactyly; Brachydactyly type C; Brachydactyly type A1C 0 0 1 1
Type II complement component 8 deficiency 1 0 0 1
UBR5-related neurodevelopmental disorder 0 0 1 1
UNC79-related neurodevelopmental disorder 0 0 1 1
Unverricht-Lundborg syndrome 1 0 0 1
Usher syndrome type 2A; Retinitis pigmentosa 39 0 0 1 1
Usmani-Riazuddin syndrome, autosomal dominant; Usmani-Riazuddin syndrome, autosomal recessive 0 0 1 1
Van der Woude syndrome 2 0 0 1 1
Vascular lesions 0 0 1 1
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0 0 1 1
Very long chain acyl-CoA dehydrogenase deficiency 0 0 1 1
Visceral neuropathy, familial, 2, autosomal recessive 0 0 1 1
Von Hippel-Lindau syndrome 1 0 0 1
Waardenburg syndrome type 1 1 0 0 1
Weill-Marchesani syndrome 0 0 1 1
Weiss-Kruszka syndrome 0 0 1 1
Wolcott-Rallison dysplasia 0 0 1 1
Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 0 0 1 1
Wolfram-like syndrome 0 0 1 1
X-linked Alport syndrome 0 0 1 1
X-linked Opitz G/BBB syndrome 1 0 0 1
X-linked intellectual disability 0 0 1 1
X-linked intellectual disability, Cantagrel type 1 0 0 1
X-linked intellectual disability, van Esch type 0 0 1 1
X-linked spondyloepimetaphyseal dysplasia; Meester-Loeys syndrome 0 0 1 1
Xeroderma pigmentosum, group F 0 1 0 1
ZTTK syndrome 0 0 1 1
response to aminobisphosphonates 0 0 1 1

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