ClinVar Miner

Variants from Variantyx, Inc.

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
1318 1393 0 0 0 2710

Gene and significance breakdown #

Total genes and gene combinations: 1141
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Gene or gene combination pathogenic likely pathogenic total
BRCA2 46 1 47
PKD1 18 17 35
RYR1 12 18 30
LDLR 12 16 28
NF1 17 11 28
PTPN11 24 2 26
ABCA4 15 6 21
GJB2 13 8 21
ALPL 14 6 20
ANKRD11 16 4 20
BRCA1 17 1 18
CCDST, FLG 6 12 18
CHD7 15 3 18
PAH 15 2 17
MYBPC3 13 3 16
COL2A1 7 8 15
ABCC6 7 7 14
G6PD 9 4 13
MYO7A 7 6 13
PALB2 12 0 12
CLCN1 5 6 11
COL1A1 6 5 11
KMT2D 8 3 11
MECP2 9 2 11
POLG 3 8 11
PTEN 7 4 11
ATP7B 5 5 10
CEP290 8 2 10
F8 5 5 10
FBN1 5 5 10
GAA 7 3 10
PMM2 7 3 10
SPG11 6 4 10
CACNA1A 2 7 9
COL4A1 2 7 9
GBA1, LOC106627981 4 5 9
HBB, LOC106099062, LOC107133510 9 0 9
KCNQ1 7 2 9
COL4A5 2 6 8
DMD 1 7 8
MYH7 3 5 8
MYO15A 4 4 8
SPG7 5 3 8
WFS1 4 4 8
ASPM 7 0 7
COL11A1 3 4 7
CPT2 3 4 7
DDX3X 4 3 7
DNAH5 3 4 7
DYSF 6 1 7
F11 3 4 7
MFN2 2 5 7
NOTCH3 1 6 7
OBSCN 0 7 7
POLR3A 5 2 7
SCN8A 2 5 7
SETX 3 4 7
SGSH 4 3 7
TUBA1A 2 5 7
USH2A 4 3 7
ACADM 5 1 6
ATM 5 1 6
CC2D2A 4 2 6
CUBN 1 5 6
DSG2 2 4 6
EFTUD2 5 1 6
FGFR2 5 1 6
HRAS, LRRC56 5 1 6
LRP5 2 4 6
MT-ND1 1 5 6
OTOG 2 4 6
PKP2 4 2 6
PYGM 3 3 6
SACS 2 4 6
SMAD6 0 6 6
SPAST 1 5 6
SPTAN1 1 5 6
TSC1 4 2 6
ABCC8 2 3 5
ACADVL 2 3 5
ANO5 3 2 5
APOB 1 4 5
CD46 0 5 5
CDH23 4 1 5
CHD2 3 2 5
COQ8A 1 4 5
DCC 2 3 5
DYNC2H1 3 2 5
EMC1 2 3 5
ETFDH 1 4 5
FGFR3 5 0 5
FRAS1 2 3 5
GDAP1 3 2 5
HNF1A 2 3 5
IGHMBP2 4 1 5
KCNH2 1 4 5
KDM5B 1 4 5
KMT2A 4 1 5
LMNA 3 2 5
MADD 0 5 5
MED13L 4 1 5
MT-ATP6 2 3 5
MT-ND5 2 4 5
MT-TL1 3 2 5
NALCN 2 3 5
NEK1 1 4 5
NPC1 4 1 5
OCA2 3 2 5
PDHA1 3 2 5
SIN3A 3 2 5
SPEN 1 4 5
VPS13A 1 4 5
VWF 2 3 5
WDFY3 1 4 5
ABCA1 3 1 4
ABCA7 1 3 4
ACADS 3 1 4
AFG2A 2 2 4
AGL 4 0 4
AHDC1 3 1 4
ASAH1 2 2 4
ATM, C11orf65 4 0 4
BLTP1 2 2 4
CDKL5 3 1 4
CEP164 1 3 4
CFTR 4 0 4
CHD5 2 2 4
CLCNKB, LOC106501713 2 2 4
CLTC 1 3 4
CREBBP 0 4 4
DHCR7 1 3 4
ECHS1 2 2 4
FLNA 2 2 4
G6PC1 2 2 4
GATA3 4 0 4
GH-LCR, SCN4A 0 4 4
GLA, RPL36A-HNRNPH2 1 3 4
GLMN 0 4 4
GNB1 2 2 4
GRIN2B 1 3 4
GUCY2D 1 3 4
HOGA1 1 3 4
KAT6A 3 1 4
KCNQ4 0 4 4
MED13 3 1 4
MIB1 0 4 4
MPZ 1 3 4
MPZL2 3 1 4
MT-ND3 1 3 4
MT-TK 2 2 4
MT-TW 0 4 4
MTHFR 1 3 4
MUTYH 3 1 4
NAA15 2 2 4
NAGLU 3 1 4
NPHP4 1 3 4
NPHS2 4 0 4
NSD2 2 2 4
OTC 2 2 4
OTOGL 1 3 4
PINK1 3 1 4
PNPT1 1 3 4
PPM1D 2 2 4
RIT1 3 1 4
RRM2B 1 3 4
SLC12A3 2 2 4
SLC2A1 2 2 4
SPTBN1 0 4 4
SPTBN2 2 2 4
STRC 2 2 4
STUB1 0 4 4
TBC1D24 2 2 4
TCF12 1 3 4
TLK2 1 3 4
TMC1 1 3 4
TRIO 2 2 4
TSC2 4 0 4
VPS13B 2 2 4
VPS13D 0 4 4
WAC 4 0 4
AAAS 2 1 3
ABCD1 0 3 3
ADAMTS13 0 3 3
ADAR 1 2 3
AP3B2, CPEB1 1 2 3
ARX 1 2 3
ASS1 2 1 3
ASXL3 1 2 3
ATL1 2 1 3
ATP1A3 3 0 3
BBS2 1 2 3
BCHE 0 3 3
BEST1 1 2 3
BRCA1, LOC126862571 3 0 3
CACNA1S 1 2 3
CAPN3 1 2 3
CASK 2 1 3
CBL 2 1 3
CHD8 2 1 3
CHRNB1 1 2 3
CNGA1, LOC101927157 2 1 3
COL4A2 0 3 3
CYP2R1, PDE3B 0 3 3
CYP7B1 1 2 3
DHDDS 3 0 3
DHPS 1 2 3
DICER1 0 3 3
DNAI1 1 2 3
DNMT3A 0 3 3
DPYD 3 0 3
EHMT1 2 1 3
ELP2 0 3 3
EMC10 1 2 3
EVC2 3 0 3
EXT2 2 1 3
FKRP 1 2 3
FOXG1 1 2 3
FRYL 0 3 3
GALT 2 1 3
GANAB 1 2 3
GLDC 1 2 3
GNE 1 2 3
GREB1L 1 2 3
HEXA 2 1 3
HSPG2 1 2 3
HTRA1 2 1 3
IVD 0 3 3
KDM6B 2 1 3
KIAA0753 0 3 3
KMT2C 1 2 3
KRAS 2 1 3
LAMA1 1 2 3
LOC126861898, MYH7 1 2 3
LOC129930446, MMACHC 2 1 3
MAN2B1 1 2 3
MAP2K1 2 1 3
MC4R 2 1 3
MCOLN1 2 1 3
MKS1 1 2 3
MSTO1 2 1 3
MT-ND6 1 2 3
MYH3 2 1 3
MYRF 1 2 3
MYT1L 1 2 3
NDUFAF6 1 2 3
NFIA 2 1 3
NKX2-1, SFTA3 1 2 3
NOTCH2 1 2 3
NPHS1 0 3 3
PAX6 2 1 3
PDZD7 1 2 3
PGM1 1 2 3
PHGDH 1 2 3
PIEZO2 0 3 3
PKD2 2 1 3
PORCN 2 1 3
PSEN1 1 2 3
RAI1 2 1 3
RAPSN 3 0 3
RB1 3 0 3
RNU4-2, SIRT4 0 3 3
RPGR 0 3 3
SDHB 1 2 3
SERPINA1 3 0 3
SLC6A8 1 2 3
SMAD2 1 2 3
SNHG14, UBE3A 3 0 3
SOX11 0 3 3
SRRM2 1 2 3
TMEM67 1 2 3
TNFRSF13B 1 2 3
TNNI3 2 1 3
TOR1A 2 1 3
TP53 3 0 3
TTR 1 2 3
TUBB3 2 1 3
TYR 2 1 3
WDR45 3 0 3
ZMPSTE24 1 2 3
ACAN 0 2 2
ACSF3 0 2 2
ACTC1, GJD2-DT 0 2 2
ACTG1 1 1 2
ADPRS 2 0 2
ALDOB 2 0 2
AP1G1 1 1 2
AP4B1 1 1 2
APOL1 2 0 2
AR 0 2 2
ARCN1 2 0 2
ARFGEF1 1 1 2
ARID1B 1 1 2
ARSL 0 2 2
ASH1L 0 2 2
ATP13A2 1 1 2
ATP2A1 1 1 2
ATP6V1B1 2 0 2
AXIN2 0 2 2
BBS1, ZDHHC24 1 1 2
BCL11B 1 1 2
BCOR 1 1 2
BICD2 0 2 2
BPTF 1 1 2
BRIP1 1 1 2
BTD 1 1 2
BTK 0 2 2
CACNA1F 2 0 2
CAD 0 2 2
CAMTA1 2 0 2
CAPRIN1 1 1 2
CCDC88C 1 1 2
CDC42BPB 0 2 2
CDK10 0 2 2
CDKN2A 1 1 2
CEP104 0 2 2
CEP135 2 0 2
CHD3 1 1 2
CHD4 0 2 2
CIC 0 2 2
CIROP 0 2 2
CLN3 1 1 2
CLRN1 2 0 2
CNOT3 1 1 2
COG6 0 2 2
COL1A1, LOC126862586 2 0 2
COL1A2 0 2 2
COL9A2 0 2 2
CREB3L3 0 2 2
CTCF 1 1 2
CTNS 1 1 2
CTRC 1 1 2
CYP11A1 1 1 2
CYP1B1 2 0 2
DBT 1 1 2
DEAF1 1 1 2
DOK7 0 2 2
DPAGT1 0 2 2
DUOX2 1 1 2
EBF3 1 1 2
EDA 1 1 2
EFNB1 1 1 2
ERCC2 1 1 2
EXOSC9 1 1 2
EYA1 2 0 2
F9 0 2 2
FAM161A 2 0 2
FANCC 1 1 2
FANCI 1 1 2
FGA 0 2 2
FGG 0 2 2
FLVCR1 1 1 2
FMN2 0 2 2
FREM2 1 1 2
GALC 2 0 2
GALE 0 2 2
GALNS 1 1 2
GATA6 2 0 2
GBE1 1 1 2
GCDH 2 0 2
GJB1 0 2 2
GLI1 0 2 2
HMGCS2 0 2 2
HNF1B 0 2 2
IARS1 0 2 2
IFT140, LOC105371046 1 1 2
IRF6 1 1 2
KAT6B 2 0 2
KCNA2 1 1 2
KCNJ1 1 1 2
KCNV2 1 1 2
KDM6B, LOC121587574 1 1 2
KIAA0586 1 1 2
KIF11 2 0 2
KIT 1 1 2
KMT5B 2 0 2
L1CAM 1 1 2
LAMC3 1 1 2
LARP7, MIR302CHG 0 2 2
LEMD3 0 2 2
LIX1L, LOC126805851, RBM8A 2 0 2
LOC126862264, MEFV 2 0 2
LOC129992813, PKD2 2 0 2
LRPPRC 1 1 2
MAGEL2 1 1 2
MED17 0 2 2
MMACHC 2 0 2
MRE11 0 2 2
MSH2 2 0 2
MT-CYB 0 2 2
MT-TE 0 2 2
MT-TH 0 2 2
MT-TN 0 2 2
MT-TS1 1 1 2
MTM1 0 2 2
MVK 0 2 2
MYH2, MYHAS 0 2 2
MYMK 2 0 2
MYO3A 0 2 2
MYORG 1 1 2
NARS1 1 1 2
NBEA 0 2 2
NBN 1 1 2
NF2 2 0 2
NHS 1 1 2
NIPBL 2 0 2
NMNAT1 2 0 2
NR2E3 2 0 2
NRXN1 1 1 2
NUBPL 1 1 2
OAT 0 2 2
OPA1 2 0 2
OPHN1 0 2 2
OTOF 0 2 2
PADI3 0 2 2
PAX2 1 1 2
PBX1 1 1 2
PC 0 2 2
PDSS1 0 2 2
PEX1 2 0 2
PIGB 1 1 2
PIGN 1 1 2
PIGO 0 2 2
PIGT 0 2 2
PKHD1L1 0 2 2
PLEC 1 1 2
PLOD1 2 0 2
PNKP 2 0 2
PNPLA6 2 0 2
POLR3B 0 2 2
POMGNT1, TSPAN1 2 0 2
PPP3CA 0 2 2
PPT1 2 0 2
PRR12 1 1 2
PRX 0 2 2
PTPRQ 1 1 2
PUF60 1 1 2
RAD21 1 1 2
RAD51D, RAD51L3-RFFL 1 1 2
RECQL4 0 2 2
RET 2 0 2
RORA 0 2 2
RP1L1 0 2 2
RPE65 2 0 2
RPGRIP1 1 1 2
RPGRIP1L 2 0 2
SCN1B 1 1 2
SDHA 1 1 2
SDHAF2 0 2 2
SEC24D 1 1 2
SELENON 2 0 2
SERPING1 1 1 2
SETD1A 1 1 2
SGCA 1 1 2
SHANK2 1 1 2
SHANK3 2 0 2
SLC16A2 1 1 2
SLC24A1 0 2 2
SLC34A3 1 1 2
SLC45A2 1 1 2
SLC5A2 0 2 2
SLC7A9 1 1 2
SMAD4 0 2 2
SMAD9 1 1 2
SMARCA4 1 1 2
SMARCC2 2 0 2
SOS1 2 0 2
SPATA7 2 0 2
SPRED1 2 0 2
SPTA1 1 1 2
SRCAP 1 1 2
SRD5A2 0 2 2
SRD5A3 1 1 2
SURF1 2 0 2
SUZ12 0 2 2
SYNGAP1 1 1 2
SZT2 0 2 2
TANC2 0 2 2
TAPBPL, VAMP1 1 1 2
TARDBP 2 0 2
TBCD 0 2 2
TBCK 1 1 2
TCF4 2 0 2
TERT 0 2 2
TGFB3 0 2 2
TMCO1 1 1 2
TMPRSS3 2 0 2
TNNI2 2 0 2
TNNT2 0 2 2
TOE1 0 2 2
TPP1 2 0 2
TRAPPC11 0 2 2
TRIM8 2 0 2
TRPC6 0 2 2
TSEN54 1 1 2
TTN 1 1 2
TTPA 1 1 2
TUSC3 0 2 2
UBE3B 1 1 2
USP7 1 1 2
USP9X 1 1 2
VPS51 0 2 2
VWA1 2 0 2
WARS2 0 2 2
WWOX 0 2 2
ZMYM2 0 2 2
ZMYND11 0 2 2
ZNHIT3 0 2 2
AARS1 0 1 1
ABCB4 1 0 1
ABCC9 0 1 1
ABCD1, PLXNB3 0 1 1
ABL1 1 0 1
ACADSB 1 0 1
ACTA2 0 1 1
ACVRL1 0 1 1
ADAMTS17, LOC130058037 0 1 1
ADAT3, SCAMP4 0 1 1
ADGRG1 0 1 1
ADGRL1 0 1 1
ADSS1 0 1 1
AEBP1 0 1 1
AGA 1 0 1
AGO1 1 0 1
AGRN 0 1 1
AIMP1 0 1 1
AIPL1 1 0 1
AKT1 1 0 1
ALDH18A1 0 1 1
ALDH1A3 1 0 1
ALDH3A2 0 1 1
ALDH5A1 1 0 1
ALDH7A1 1 0 1
ALG11, ATP7B 1 0 1
ALG6 1 0 1
ALG8 1 0 1
ALOXE3 0 1 1
ALPK3 0 1 1
ALPK3, LOC111718493 1 0 1
AMACR, C1QTNF3-AMACR 0 1 1
AMMECR1 0 1 1
AMPD1 1 0 1
ANK1 1 0 1
ANO10 1 0 1
APBB1, SMPD1 1 0 1
APC 1 0 1
APOA5 0 1 1
APTX 1 0 1
ARHGEF9 1 0 1
ARID1A 0 1 1
ARID1A, LOC129929837 1 0 1
ARV1 1 0 1
ASTN2, TRIM32 0 1 1
ATG7 0 1 1
ATP2B1 0 1 1
ATP7A 0 1 1
ATP8A2 0 1 1
ATRX 0 1 1
AVIL 0 1 1
AVPR2 0 1 1
AXDND1, NPHS2 1 0 1
B3GALNT2 0 1 1
B3GALT6 0 1 1
B3GLCT 0 1 1
B4GALNT1 0 1 1
BAG3 1 0 1
BARD1 1 0 1
BBS10 1 0 1
BBS4 0 1 1
BCAS3 0 1 1
BCAT2 0 1 1
BCS1L 1 0 1
BICRA 1 0 1
BIVM-ERCC5, ERCC5 0 1 1
BLM 0 1 1
BLOC1S1-RDH5, CD63, RDH5 1 0 1
BLOC1S1-RDH5, RDH5 0 1 1
BMP4 0 1 1
BMPR1A 1 0 1
BRF1 0 1 1
C12orf57 0 1 1
C12orf57, RNU7-1 1 0 1
C19orf12 1 0 1
C6 1 0 1
C9 1 0 1
CACNA1C 1 0 1
CACNA1G 0 1 1
CACNA2D4 0 1 1
CAPN15 0 1 1
CAPRIN1, LOC101929918 0 1 1
CARD14, SGSH 1 0 1
CASQ2 0 1 1
CCDC40 1 0 1
CDH1 1 0 1
CDH2 0 1 1
CDK8 0 1 1
CDKL5, RS1 1 0 1
CDKN1C 0 1 1
CEP128, TSHR 0 1 1
CEP295 0 1 1
CEP57 1 0 1
CERS1, GDF1, UPF1 0 1 1
CETP 0 1 1
CFAP43 1 0 1
CFAP53 1 0 1
CFAP74 0 1 1
CFI 1 0 1
CFTR, LOC111674472 0 1 1
CHAT 1 0 1
CHD7, LOC126860403 0 1 1
CHMP1A 1 0 1
CHRNE 1 0 1
CIROZ 0 1 1
CLN5 1 0 1
CLPB 0 1 1
CLPB, LOC126861258 0 1 1
CLTC, LOC125177523 0 1 1
CNGB1 0 1 1
CNKSR2 1 0 1
CNOT1 0 1 1
CNTN1 0 1 1
CNTN2 0 1 1
CNTNAP2 1 0 1
COASY 0 1 1
COCH 1 0 1
COG4 1 0 1
COL4A4 0 1 1
COL5A1, LOC101448202 1 0 1
COL6A2 1 0 1
COL7A1 1 0 1
COMP 0 1 1
COQ2 1 0 1
COQ6 1 0 1
COQ9 0 1 1
COX20, LOC129932912 1 0 1
CPA6 0 1 1
CPAP 0 1 1
CPAP, RNF17 0 1 1
CPT1A 0 1 1
CPT2, LOC129930561 0 1 1
CR2 0 1 1
CRADD 0 1 1
CRB1 0 1 1
CRB2 1 0 1
CSF3R 1 0 1
CTC1 0 1 1
CTDP1 0 1 1
CTH 0 1 1
CWF19L1 0 1 1
CYLD, NOD2 0 1 1
CYP1B1, LOC128772254 1 0 1
CYP27A1 1 0 1
DBH 1 0 1
DDHD2 0 1 1
DDX11 1 0 1
DDX59 1 0 1
DGUOK 0 1 1
DHODH 0 1 1
DHTKD1 1 0 1
DLG4 1 0 1
DLL4 0 1 1
DMP1, DSPP 0 1 1
DNA2 0 1 1
DNAAF19 1 0 1
DNAH9 0 1 1
DNAJB6 1 0 1
DNAJC12 1 0 1
DNM1 1 0 1
DOCK6 0 1 1
DOCK8 0 1 1
DPF2 0 1 1
DPYS 0 1 1
DSC2 0 1 1
DSG1 1 0 1
DYNC2I2 0 1 1
EARS2 1 0 1
EBP 1 0 1
ECEL1 1 0 1
EFEMP1 0 1 1
EFEMP2 0 1 1
EIF2B1 1 0 1
EIF2B2 1 0 1
EIF2B3 0 1 1
EIF3F 1 0 1
ELANE 1 0 1
ELP4, PAX6 1 0 1
ENG 0 1 1
ENG, LOC102723566 0 1 1
ENPP1 1 0 1
EPG5 1 0 1
ERCC4 1 0 1
ERCC6 1 0 1
ERCC6, PGBD3 0 1 1
ERCC8 1 0 1
ERF 1 0 1
ETFA 1 0 1
ETHE1 1 0 1
EXOSC2 0 1 1
EXT1 0 1 1
F2 1 0 1
F5 1 0 1
FA2H 0 1 1
FA2H, LOC130059394 1 0 1
FAH 1 0 1
FANCA, LOC112486223 1 0 1
FAR1 1 0 1
FAT4 0 1 1
FBN1, LOC126862124 1 0 1
FBXO11 1 0 1
FBXO11, LOC100506235 0 1 1
FCN3 0 1 1
FDX2, FDX2-ZGLP1, LOC130063486 0 1 1
FDXR 0 1 1
FERRY3 0 1 1
FGB 1 0 1
FGFR1 0 1 1
FH 1 0 1
FIG4 1 0 1
FKTN 0 1 1
FLAD1 0 1 1
FLCN 1 0 1
FOXC2 0 1 1
FOXE3, LINC01389 1 0 1
FOXJ1 0 1 1
FOXN1 0 1 1
FOXP1 1 0 1
FOXRED1 1 0 1
FRMD7 1 0 1
FRRS1L 1 0 1
FUS 0 1 1
FXN 1 0 1
G6PD, IKBKG 0 1 1
GABBR2 1 0 1
GABRA5 0 1 1
GALNT2 0 1 1
GATA1 1 0 1
GATAD2B 0 1 1
GATB 0 1 1
GBF1, PITX3 0 1 1
GCH1 1 0 1
GEMIN5 0 1 1
GFAP 0 1 1
GJA8 0 1 1
GLUL 1 0 1
GMPPB 0 1 1
GNAI1 1 0 1
GNAO1 0 1 1
GNG12, WLS 0 1 1
GOSR2, LRRC37A2 1 0 1
GPC3 0 1 1
GPD1 0 1 1
GPSM2 1 0 1
GRHL2 0 1 1
GRIA2 1 0 1
GRIN2A 0 1 1
GRN 1 0 1
GUCY2C 0 1 1
HADHB 0 1 1
HBA1, LOC106804613 0 1 1
HERC1 0 1 1
HGSNAT 1 0 1
HMBS 1 0 1
HNF1B, LOC126862549 0 1 1
HNRNPH2, RPL36A-HNRNPH2 1 0 1
HPD 0 1 1
HPDL, LOC129930440 0 1 1
HPS1 1 0 1
HPSE2 1 0 1
HSD17B3, SLC35D2-HSD17B3 1 0 1
HSPB1 1 0 1
IARS2 0 1 1
IDS 0 1 1
IDS, LOC106050102 0 1 1
IDUA 1 0 1
IFIH1 0 1 1
IFITM5 1 0 1
IFT140 1 0 1
IFT81 0 1 1
IGF1R 0 1 1
IL10RA 1 0 1
IL2RG, LOC126863274 1 0 1
INF2 0 1 1
INSL6, JAK2 0 1 1
IRF2BPL 0 1 1
ISCA2 1 0 1
ITGA2B 1 0 1
ITGA7 0 1 1
ITGA7, LOC126861535 0 1 1
ITPR1 0 1 1
JARID2 1 0 1
KANK2 0 1 1
KANSL1 0 1 1
KATNIP 0 1 1
KCNA1 1 0 1
KCNJ2 0 1 1
KCNK4, KCNK4-CATSPERZ 0 1 1
KCNMA1 0 1 1
KCNQ3 0 1 1
KDM4B 0 1 1
KDM5A 0 1 1
KDM5C 1 0 1
KDM6A 1 0 1
KIF1C, LOC126862472 0 1 1
KIF7 1 0 1
KL 0 1 1
KLF1 1 0 1
KLF1, LOC117125591 1 0 1
KLF1, LOC130063673 0 1 1
KLHL40 0 1 1
KLKB1 1 0 1
KMT2B 1 0 1
KRT14 0 1 1
L2HGDH 0 1 1
LAMA2 1 0 1
LBR 0 1 1
LEMD3, LOC130008225 0 1 1
LGI1 1 0 1
LIAS 0 1 1
LINS1 0 1 1
LIPA 0 1 1
LMBRD2 1 0 1
LMX1A 0 1 1
LMX1B 1 0 1
LOC101928008, SBF2 0 1 1
LOC102724058, SCN1A 1 0 1
LOC112577517, TOR1AIP1 0 1 1
LOC114827850, MYL2 0 1 1
LOC122756382, LPIN1 0 1 1
LOC123956210, SLC26A4 0 1 1
LOC126806068, RYR2 0 1 1
LOC126861615, PAH 1 0 1
LOC126862481, POLR2A 0 1 1
LOC126862500, MYH2, MYHAS 0 1 1
LOC126863330, RBMX 0 1 1
LOC128772343, SOX6 1 0 1
LOC129388857, LRPPRC 0 1 1
LOC129391064, MAN2B1 1 0 1
LOC129931299, WARS2 1 0 1
LOC129931382, SF3B4 1 0 1
LOC129992137, MSX1 0 1 1
LOC129992585, SGCB 0 1 1
LOC130004408, TCTN3 1 0 1
LOC130009747, SUCLA2 0 1 1
LOC130056519, TECPR2 0 1 1
LOC130056936, UBR1 0 1 1
LOC130056973, SPG11 0 1 1
LOC130059818, SPG7 1 0 1
LOC130060903, NAGLU 0 1 1
LOC130063256, MICOS13 0 1 1
LOC130064280, SDHAF1 0 1 1
LOXHD1 1 0 1
LRP4 0 1 1
LRRC32 0 1 1
LRRK2 1 0 1
LURAP1L, TYRP1 1 0 1
LYST 0 1 1
MAF 0 1 1
MAGT1 0 1 1
MAN1B1 0 1 1
MANBA 0 1 1
MAP2K2 1 0 1
MAPK1 0 1 1
MASP2, TARDBP 1 0 1
MBOAT7 0 1 1
MED12 0 1 1
MED25 0 1 1
MEFV 0 1 1
MEGF8 0 1 1
MICU1 1 0 1
MIR6084, PINK1 0 1 1
MMAB 1 0 1
MME 1 0 1
MMP20 1 0 1
MPDZ 0 1 1
MPL 0 1 1
MPV17 0 1 1
MRPS34 0 1 1
MSH6 1 0 1
MT-ATP6, MT-ATP8 0 1 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TF, MT-TI, MT-TK, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TS1, MT-TV, MT-TW, MT-TY 0 1 1
MT-ATP8 0 1 1
MT-CO3 0 1 1
MT-ND1, MT-RNR1 1 0 1
MT-ND1, MT-TL1 0 1 1
MT-ND4 1 0 1
MT-ND5, MT-ND6 1 0 1
MT-RNR1, MT-TS1 0 1 1
MT-TA 0 1 1
MT-TF 0 1 1
MT-TL2 0 1 1
MT-TM 0 1 1
MT-TP 0 1 1
MT-TT 0 1 1
MT-TV 0 1 1
MTFMT 1 0 1
MTOR 0 1 1
MTRFR 0 1 1
MUSK 0 1 1
MVP-DT, PRRT2 1 0 1
MYBPC1 1 0 1
MYCL, TRIT1 0 1 1
MYH10 1 0 1
MYH11 0 1 1
MYH11, NDE1 0 1 1
MYH6 0 1 1
MYL2 0 1 1
MYL4 0 1 1
MYO18B 1 0 1
MYOCD 0 1 1
MYSM1 0 1 1
NBAS 0 1 1
NDUFAF8 1 0 1
NEFH 0 1 1
NEFL 1 0 1
NEK2 0 1 1
NEU1 0 1 1
NEXN 0 1 1
NFIB 1 0 1
NFIX 0 1 1
NFKB1 0 1 1
NFKB2 0 1 1
NFU1 0 1 1
NHLRC2 1 0 1
NODAL 0 1 1
NOTCH1 0 1 1
NPHP3-ACAD11, UBA5 1 0 1
NPTX1 0 1 1
NR0B1 1 0 1
NR2F2 1 0 1
NR3C2 0 1 1
NR5A1 0 1 1
NSUN6 0 1 1
NTHL1, TSC2 1 0 1
NTRK1 1 0 1
NUP133 0 1 1
NUS1 0 1 1
ODAPH 0 1 1
OPLAH 0 1 1
ORC1 1 0 1
ORC6 0 1 1
P2RX2 0 1 1
P3H1 1 0 1
PACS1 1 0 1
PAFAH1B1 1 0 1
PAK1 0 1 1
PANK2 1 0 1
PARK7 0 1 1
PARN 0 1 1
PARS2 0 1 1
PCCA 0 1 1
PCDH19 1 0 1
PCSK9 0 1 1
PDP1 1 0 1
PEX10 0 1 1
PEX12 1 0 1
PEX19 0 1 1
PEX6 0 1 1
PGM2L1 0 1 1
PHF6 1 0 1
PHKA1 0 1 1
PHKA2 0 1 1
PHKG2 0 1 1
PHYH 0 1 1
PIBF1 0 1 1
PIEZO1 1 0 1
PIGG 1 0 1
PIGS 0 1 1
PITRM1 0 1 1
PITX2 0 1 1
PKHD1 1 0 1
PLEKHG5 0 1 1
PLG 1 0 1
PMP22 0 1 1
PNLIP 0 1 1
PNP 1 0 1
POGZ 1 0 1
POLG, POLGARF 0 1 1
POLR2A 0 1 1
POLRMT 0 1 1
POT1 1 0 1
PPFIBP1 0 1 1
PPP1CB 1 0 1
PPP1R12A 1 0 1
PQBP1 1 0 1
PRDM5 0 1 1
PRG4 1 0 1
PRKCG 0 1 1
PRKCSH 1 0 1
PRKDC 0 1 1
PROK2 0 1 1
PSAP 0 1 1
PSENEN 1 0 1
PSMD12 0 1 1
PTCH1 1 0 1
PTS 0 1 1
PUM1 0 1 1
PXDN 0 1 1
PYCR2 0 1 1
RAD51 0 1 1
RAD51C 0 1 1
RAF1 1 0 1
RAG1 1 0 1
RBM8A 1 0 1
RBP3 0 1 1
RELA 0 1 1
RELN 1 0 1
RHOBTB2 1 0 1
RNASEH2B 1 0 1
RNF170 1 0 1
RNF213 1 0 1
RNU2-2, WDR74 0 1 1
RNU4-1, RNU4-2, SIRT4 1 0 1
RRAS2 0 1 1
RYR2 0 1 1
SCNN1A 0 1 1
SDHD 1 0 1
SEMA6B 0 1 1
SERPINC1 0 1 1
SETBP1 1 0 1
SETD1B 1 0 1
SF3B4 1 0 1
SFXN4 0 1 1
SH3BP2 0 1 1
SH3TC2 1 0 1
SHOC2 1 0 1
SHOX 1 0 1
SIX1 0 1 1
SLC12A1 0 1 1
SLC12A2 0 1 1
SLC25A10 0 1 1
SLC25A24 1 0 1
SLC26A4 1 0 1
SLC34A1 0 1 1
SLC37A4 1 0 1
SLC3A1 0 1 1
SLC4A1 0 1 1
SLC5A5 1 0 1
SLC5A6 1 0 1
SLC6A19 1 0 1
SLC6A3 0 1 1
SLC6A5 0 1 1
SLC7A7 0 1 1
SLITRK2 0 1 1
SLX4 0 1 1
SMAD3 0 1 1
SMCHD1 1 0 1
SMPX 0 1 1
SORD 1 0 1
SOS2 1 0 1
SOX9 1 0 1
SPART 0 1 1
SPG21 1 0 1
SPNS2 0 1 1
SPTB 0 1 1
SPTBN4 0 1 1
SPTLC1 0 1 1
SPTLC2 0 1 1
SQSTM1 1 0 1
SRP54 1 0 1
SRY 0 1 1
STAG2 0 1 1
STIL 1 0 1
STX1B 1 0 1
SV2A 0 1 1
SYNE4 0 1 1
TAF8 1 0 1
TBCEL-TECTA, TECTA 0 1 1
TBX3 0 1 1
TBX5 0 1 1
TCF7L2 0 1 1
TCTN1 0 1 1
TCTN2 0 1 1
TCTN3 0 1 1
TEK 0 1 1
TGFB2 0 1 1
TGM1 1 0 1
TGM5 1 0 1
TH 0 1 1
THOC6 0 1 1
THRA 1 0 1
TINF2 1 0 1
TK2 0 1 1
TLR7 0 1 1
TMEM126B 0 1 1
TMEM147 0 1 1
TMEM216 1 0 1
TMEM240 1 0 1
TMEM94 0 1 1
TP53BP1, TUBGCP4 1 0 1
TP63 1 0 1
TPM1 0 1 1
TPO 1 0 1
TPRN 1 0 1
TRAF3 0 1 1
TRAF7 1 0 1
TRAPPC12 0 1 1
TRAPPC4 1 0 1
TRIM2 0 1 1
TRIOBP 1 0 1
TRPM1 0 1 1
TRPM6 0 1 1
TRPS1 1 0 1
TRPV4 1 0 1
TSFM 0 1 1
TSHR 0 1 1
TSPOAP1 0 1 1
TUBB1 0 1 1
TUBB2A 0 1 1
TUBB4A 1 0 1
TULP1 0 1 1
UBAP1 0 1 1
UBE4A 0 1 1
UCHL1 0 1 1
UNC13A 0 1 1
UROD 1 0 1
VARS1 0 1 1
VPS13C 0 1 1
VPS33B 0 1 1
VRK1 0 1 1
WARS1 0 1 1
WBP11 1 0 1
WDR11 0 1 1
WDR19 0 1 1
WDR35 1 0 1
WDR37 1 0 1
WNK1 1 0 1
WNT10A 1 0 1
XIAP 1 0 1
XYLT1 0 1 1
ZBTB18 1 0 1
ZDHHC9 0 1 1
ZFHX3 0 1 1
ZFHX4 1 0 1
ZFX 1 0 1
ZFYVE26 0 1 1
ZIC2 0 1 1
ZIC3 0 1 1
ZNF423 0 1 1
ZNF462 1 0 1
ZNF469 0 1 1
ZSCAN10 0 1 1

Condition and significance breakdown #

Total conditions: 1280
Download table as spreadsheet
Condition pathogenic likely pathogenic total
Primary Mitochondrial Disorders 15 46 61
Breast-ovarian cancer, familial, susceptibility to, 2 37 1 38
Polycystic kidney disease, adult type 18 17 35
Hypercholesterolemia, familial, 1 12 15 27
CHD7-related CHARGE syndrome 17 7 24
Neurofibromatosis, type 1 15 8 23
Breast-ovarian cancer, familial, susceptibility to, 1 20 1 21
KBG syndrome 16 4 20
Autosomal recessive nonsyndromic hearing loss 1A 12 7 19
Malignant hyperthermia, susceptibility to, 1 6 9 15
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 9 5 14
Autosomal dominant PTPN11-related disorders 13 1 14
Hypertrophic cardiomyopathy 4 11 3 14
Hypertrophic cardiomyopathy 1 5 7 12
Noonan syndrome 1 11 1 12
Kabuki syndrome 1 8 3 11
Severe early-childhood-onset retinal dystrophy 6 5 11
Wilson disease 6 5 11
autosomal dominant PALB2-related cancer predisposition 11 0 11
Autosomal dominant COL2A1-related disorders 4 6 10
Autosomal recessive CEP290-related disorders 8 2 10
Autosomal recessive POLG-related disorders 2 8 10
Autosomal recessive inherited pseudoxanthoma elasticum 5 5 10
Congenital multicore myopathy with external ophthalmoplegia 6 4 10
Glycogen storage disease, type II 7 3 10
Hereditary factor VIII deficiency disease 5 5 10
PMM2-congenital disorder of glycosylation 7 3 10
Phenylketonuria 8 2 10
Semidominant ALPL-related disorders 7 3 10
Hereditary spastic paraplegia 7 6 3 9
Ichthyosis vulgaris 4 5 9
Long QT syndrome 1 7 2 9
Marfan syndrome 5 4 9
autosomal dominant COL1A1-related osteogenesis imperfecta 6 3 9
Ataxia-telangiectasia syndrome 8 0 8
Autosomal recessive PAH-related disorders 8 0 8
Autosomal recessive nonsyndromic hearing loss 3 4 4 8
Beta-thalassemia HBB/LCRB 8 0 8
Developmental and epileptic encephalopathy 116 8 0 8
Mucopolysaccharidosis, MPS-III-A 5 3 8
X-linked Alport syndrome 2 6 8
Autosomal dominant COL4A1-related disorders 2 5 7
Autosomal dominant PTEN-related disorders 4 3 7
Autosomal recessive nonsyndromic hearing loss 18B 3 4 7
Carnitine palmitoyl transferase II deficiency, severe infantile form 3 4 7
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 6 7
Hereditary factor XI deficiency disease 3 4 7
Intellectual disability, X-linked 102 4 3 7
Lissencephaly due to TUBA1A mutation 2 5 7
Primary ciliary dyskinesia 3 3 4 7
Rhabdomyolysis, susceptibility to, 1 0 7 7
Arrhythmogenic right ventricular dysplasia 10 2 4 6
Arrhythmogenic right ventricular dysplasia 9 4 2 6
Autosomal dominant CACNA1A-related disorders 1 5 6
Autosomal recessive ABCA4-related disorders 5 1 6
Autosomal recessive USH2A-related disorders 3 3 6
Charlevoix-Saguenay spastic ataxia 2 4 6
Congenital myotonia, autosomal recessive form 5 1 6
Costello syndrome 5 1 6
Glycogen storage disease, type V 3 3 6
Hereditary spastic paraplegia 11 4 2 6
Hereditary spastic paraplegia 4 1 5 6
Mandibulofacial dysostosis-microcephaly syndrome 5 1 6
Medium-chain acyl-coenzyme A dehydrogenase deficiency 5 1 6
Multiple acyl-CoA dehydrogenase deficiency 2 4 6
Rett syndrome 5 1 6
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 3 3 6
Tuberous sclerosis 1 4 2 6
Wolfram syndrome 1 3 3 6
Asphyxiating thoracic dystrophy 3 3 2 5
Autosomal dominant BRCA2-related cancer types 5 0 5
Autosomal dominant WDFY3-related disorders 1 4 5
Autosomal recessive ALPL-related disorders 3 2 5
Autosomal recessive POLR3A-related disorders 4 1 5
Autosomal recessive SPG11-related disorders 2 3 5
Autosomal recessive ataxia due to ubiquinone deficiency 1 4 5
Autosomal recessive early-onset Parkinson disease 6 3 2 5
Autosomal recessive nonsyndromic hearing loss 7 1 4 5
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 4 1 5
Cerebellar atrophy, visual impairment, and psychomotor retardation; 2 3 5
Cobalamin C disease 4 1 5
Congenital myotonia, autosomal dominant form 0 5 5
Cystic fibrosis 4 1 5
Developmental and epileptic encephalopathy 94 3 2 5
Fraser syndrome 1 2 3 5
Intellectual disability, autosomal dominant 56 1 4 5
Intellectual disability, autosomal recessive 65 1 4 5
Long QT syndrome 2 1 4 5
Nephrotic syndrome, type 2 5 0 5
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 3 2 5
Polycystic kidney disease 2 4 1 5
Pyruvate dehydrogenase E1-alpha deficiency 3 2 5
Radio-Tartaglia syndrome 1 4 5
SIN3A-related intellectual disability syndrome due to a point mutation 3 2 5
Short-rib thoracic dysplasia 6 with or without polydactyly 1 4 5
Usher syndrome type 1 3 2 5
VPS13A-related neurodegenerative disease 1 4 5
Very long chain acyl-CoA dehydrogenase deficiency 2 3 5
Wiedemann-Steiner syndrome 4 1 5
X-linked MECP2-related disorders 4 1 5
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 3 1 4
Adrenoleukodystrophy 0 4 4
Alkuraya-Kucinskas syndrome 2 2 4
Alzheimer disease 9 1 3 4
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 0 4 4
Autosomal dominant NF1-related disorders 2 2 4
Autosomal dominant SCN8A-related disorders 2 2 4
Autosomal dominant and autosomal recessive FLG-related disorders 1 3 4
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 3 1 4
Autosomal dominant nonsyndromic hearing loss 2A 0 4 4
Autosomal recessive ABCC6-related disorders 2 2 4
Autosomal recessive CC2D2A-related disorders 4 0 4
Autosomal recessive DYSF-related disorders 4 0 4
Autosomal recessive MADD-related disorders 0 4 4
Autosomal recessive nonsyndromic hearing loss 16 2 2 4
Autosomal recessive nonsyndromic hearing loss 84B 1 3 4
Becker muscular dystrophy 0 4 4
Charcot-Marie-Tooth disease type 4A 3 1 4
Cohen syndrome 2 2 4
Cowden syndrome 1 3 1 4
DeSanto-Shinawi syndrome due to WAC point mutation 4 0 4
Deficiency of alpha-mannosidase 2 2 4
Deficiency of butyryl-CoA dehydrogenase 3 1 4
Developmental and epileptic encephalopathy, 2 3 1 4
Developmental delay, impaired speech, and behavioral abnormalities 0 4 4
Fabry disease 1 3 4
Familial hypokalemia-hypomagnesemia 2 2 4
Glomuvenous malformation 0 4 4
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2 2 4
Hearing loss, autosomal recessive 111 3 1 4
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 3 4
Hypoparathyroidism, deafness, renal disease syndrome 4 0 4
Intellectual developmental disorder 61 3 1 4
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2 2 4
Intellectual disability, autosomal dominant 42 2 2 4
Intellectual disability, autosomal dominant 50 2 2 4
Intellectual disability, autosomal dominant 57 1 3 4
Left ventricular noncompaction 7 0 4 4
Maturity-onset diabetes of the young type 3 2 2 4
Mirror movements 1 1 3 4
Mitochondrial DNA depletion syndrome 8a 1 3 4
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2 2 4
Mucopolysaccharidosis, MPS-III-B 3 1 4
Nephronophthisis 15 1 3 4
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 1 3 4
Noonan syndrome 8 3 1 4
Ornithine carbamoyltransferase deficiency 2 2 4
Parenti-mignot neurodevelopmental syndrome 2 2 4
Primary hyperoxaluria type 3 1 3 4
Rauch-Steindl syndrome 2 2 4
Smith-Lemli-Opitz syndrome 1 3 4
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 2 2 4
Spinocerebellar ataxia type 5 2 2 4
TCF12-related craniosynostosis 1 3 4
Tuberous sclerosis 2 4 0 4
Tyrosinase-positive oculocutaneous albinism 2 2 4
X-linked DMD-related disorders 1 3 4
autosomal recessive ABCA4-related retinopathy 4 0 4
Adult hypophosphatasia 2 1 3
Amyloidosis, hereditary systemic 1 1 2 3
Amyotrophic lateral sclerosis type 10 3 0 3
Anemia, congenital dyserythropoietic, type IVb 2 1 3
Angelman syndrome 3 0 3
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 1 2 3
Autosomal dominant COL11A1-related disorders 1 2 3
Autosomal dominant DICER1-related disorders 0 3 3
Autosomal dominant SMAD6-related disorders 0 3 3
Autosomal dominant nonsyndromic hearing loss 11 1 2 3
Autosomal recessive ANO5-related disorders 1 2 3
Autosomal recessive CUBN-related disorders 1 2 3
Autosomal recessive KIAA0753-related disorders 0 3 3
Autosomal recessive MKS1-related disorders 1 2 3
Autosomal recessive MYO7A-related disorders 1 2 3
Autosomal recessive PHGDH-related disorders 1 2 3
Autosomal recessive TYR-related disorders 2 1 3
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 3 3
Autosomal recessive limb-girdle muscular dystrophy type 2B 2 1 3
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 2 1 3
Bartter disease type 3 1 2 3
Brain malformations with or without urinary tract defects 2 1 3
Brain small vessel disease 2A, autosomal dominant 0 3 3
CBL-related disorder 2 1 3
Cardiac-urogenital syndrome 1 2 3
Cardiofaciocutaneous syndrome 3 2 1 3
Central core myopathy 0 3 3
Charcot-Marie-Tooth disease type 1B 1 2 3
Charcot-Marie-Tooth disease type 2A2 1 2 3
Childhood onset GLUT1 deficiency syndrome 2 1 2 3
Citrullinemia type I 2 1 3
Congenital contractures of the limbs and face, hypotonia, and developmental delay 1 2 3
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 1 2 3
Creatine transporter deficiency 1 2 3
Cystinuria 1 2 3
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2 1 3
Developmental and epileptic encephalopathy, 42 1 2 3
Developmental and epileptic encephalopathy, 48 1 2 3
Dihydropyrimidine dehydrogenase deficiency 3 0 3
Ehlers-Danlos syndrome, kyphoscoliotic type 1 2 1 3
Ellis-van Creveld syndrome 3 0 3
FOXG1 disorder 1 2 3
Familial adenomatous polyposis 2 3 0 3
Finnish congenital nephrotic syndrome 0 3 3
Focal dermal hypoplasia 2 1 3
Glaucoma 3A 3 0 3
Glucocorticoid deficiency with achalasia 2 1 3
Glycine encephalopathy 1 1 2 3
Hereditary spastic paraplegia 3A 2 1 3
Hyperinsulinemic hypoglycemia, familial, 1 1 2 3
Immunodeficiency, common variable, 2 1 2 3
Intellectual developmental disorder with autism and macrocephaly 2 1 3
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 3 3
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 3 3
Intellectual developmental disorder, autosomal dominant 72 1 2 3
Intellectual disability, autosomal dominant 39 1 2 3
Intellectual disability, autosomal dominant 6 1 2 3
Intellectual disability, autosomal recessive 58 0 3 3
Isovaleryl-CoA dehydrogenase deficiency 0 3 3
Kartagener syndrome 1 2 3
Kleefstra syndrome 1 2 1 3
Kleefstra syndrome 2 1 2 3
Li-Fraumeni syndrome 1 3 0 3
Loeys-Dietz syndrome 6 1 2 3
Meckel syndrome, type 3 1 2 3
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 1 2 3
Mitochondrial complex I deficiency, nuclear type 17 1 2 3
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 2 1 3
Nephronophthisis 4 0 3 3
Neurodegeneration with brain iron accumulation 5 3 0 3
Neurodevelopmental disorder with dysmorphic facies and variable seizures 1 2 3
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder 1 2 3
Neurodevelopmental disorder with seizures and speech and walking impairment 1 2 3
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 1 2 3
Niemann-Pick disease, type C1 2 1 3
PGM1-congenital disorder of glycosylation 1 2 3
Pan-Chung-Bellen syndrome 0 3 3
Pheochromocytoma/paraganglioma syndrome 4 1 2 3
Polycystic kidney disease 3 with or without polycystic liver disease 1 2 3
Radial aplasia-thrombocytopenia syndrome 3 0 3
Renal hypodysplasia/aplasia 3 1 2 3
Retinitis pigmentosa 49 2 1 3
Retinoblastoma 3 0 3
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 2 3
Smith-Magenis syndrome 2 1 3
Stickler syndrome type 1 2 1 3
Syndromic X-linked intellectual disability Najm type 2 1 3
Tangier disease 3 0 3
Upshaw-Schulman syndrome 0 3 3
Vitamin D hydroxylation-deficient rickets, type 1B 0 3 3
X-linked ARX-related disorders 1 2 3
X-linked RPGR-related disorders 0 3 3
autosomal recessive CDH23-related disorders 2 1 3
von Willebrand disease type 2 1 2 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 2 2
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 2 2
8q24.3 microdeletion syndrome 1 1 2
Acrocephalosyndactyly type I 2 0 2
Aicardi-Goutieres syndrome 6 0 2 2
Al Kaissi syndrome 0 2 2
Allan-Herndon-Dudley syndrome 1 1 2
Androgen resistance syndrome 0 2 2
Arthrogryposis multiplex congenita 5 1 1 2
Arthrogryposis, distal, with impaired proprioception and touch 0 2 2
Ataxia-telangiectasia-like disorder 1 0 2 2
Autosomal dominant ACAN-related disorders 0 2 2
Autosomal dominant COL1A1-related disorders 0 2 2
Autosomal dominant CREBBP-related disorders 0 2 2
Autosomal dominant DNMT3A-related disorders 0 2 2
Autosomal dominant FGFR2-related disorders 1 1 2
Autosomal dominant FGG-related disorders 0 2 2
Autosomal dominant GATA6-related disorders 2 0 2
Autosomal dominant KAT6B-related disorders 2 0 2
Autosomal dominant LRP5-related disorders 1 1 2
Autosomal dominant MPZ-related disorders 1 1 2
Autosomal dominant MYBPC3-related disorders 2 0 2
Autosomal dominant PAX2-related disorders 1 1 2
Autosomal dominant PAX6-related disorders 2 0 2
Autosomal dominant PSEN1-related disorders 1 1 2
Autosomal dominant TRIO-related disorders 0 2 2
Autosomal dominant and autosomal recessive MFN2-related disorders 0 2 2
Autosomal dominant and autosomal recessive STUB1-related disorders 0 2 2
Autosomal dominant and autosomal recessive WFS1-related disorders 1 1 2
Autosomal dominant nonsyndromic hearing loss 20 1 1 2
Autosomal recessive AGL-related disorders 2 0 2
Autosomal recessive BCHE-related disorders 0 2 2
Autosomal recessive CEP104-related disorders 0 2 2
Autosomal recessive ERCC2-related disorders 1 1 2
Autosomal recessive GBA1-related disorders 0 2 2
Autosomal recessive GLI1-related disorders 0 2 2
Autosomal recessive GUCY2D-related disorders 1 1 2
Autosomal recessive IGHMBP2-related disorders 1 1 2
Autosomal recessive NPC1-related disorders 2 0 2
Autosomal recessive NPHP4-related disorders 0 2 2
Autosomal recessive PDZD7-related disorders 0 2 2
Autosomal recessive PNKP-related disorders 2 0 2
Autosomal recessive PNPLA6-related disorders 2 0 2
Autosomal recessive RPE65-related disorders 2 0 2
Autosomal recessive RPGRIP1-related disorders 1 1 2
Autosomal recessive RPGRIP1L-related disorders 2 0 2
Autosomal recessive SPATA7-related disorders 2 0 2
Autosomal recessive SRD5A3-related disorders 1 1 2
Autosomal recessive TCTN3-related disorders 1 1 2
Autosomal recessive distal spinal muscular atrophy 1 2 0 2
Autosomal recessive hypophosphatemic bone disease 1 1 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 1 2
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 1 2
Autosomal recessive limb-girdle muscular dystrophy type 2I 1 1 2
Autosomal recessive limb-girdle muscular dystrophy type 2L 2 0 2
Autosomal recessive limb-girdle muscular dystrophy type R18 0 2 2
Autosomal recessive nonsyndromic hearing loss 12 2 0 2
Autosomal recessive nonsyndromic hearing loss 124 0 2 2
Autosomal recessive nonsyndromic hearing loss 2 2 0 2
Autosomal recessive nonsyndromic hearing loss 30 0 2 2
Autosomal recessive nonsyndromic hearing loss 8 2 0 2
Autosomal recessive nonsyndromic hearing loss 84A 1 1 2
Autosomal recessive spastic paraplegia type 78 1 1 2
Bardet-Biedl syndrome 2 1 1 2
Bartter disease type 2 1 1 2
Basal ganglia calcification, idiopathic, 7, autosomal recessive 1 1 2
Biotinidase deficiency 1 1 2
Brain small vessel disease 1 with or without ocular anomalies 0 2 2
Branchiootorenal syndrome 1 2 0 2
Breast-ovarian cancer, familial, susceptibility to, 4 1 1 2
Brody myopathy 1 1 2
COG6-congenital disorder of glycosylation 0 2 2
Cardiomyopathy, familial hypertrophic 27 1 1 2
Carey-Fineman-Ziter syndrome 1 2 0 2
Catecholaminergic polymorphic ventricular tachycardia 1 0 2 2
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2 0 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 2 0 2
Charcot-Marie-Tooth disease X-linked dominant 1 0 2 2
Charcot-Marie-Tooth disease type 4F 0 2 2
Chilton-Okur-Chung neurodevelopmental syndrome 0 2 2
Coffin-Siris syndrome 8 2 0 2
Cole-Carpenter syndrome 2 1 1 2
Combined malonic and methylmalonic acidemia 0 2 2
Complex cortical dysplasia with other brain malformations 1 2 0 2
Cone dystrophy with supernormal rod response 1 1 2
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 1 1 2
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1 1 2
Congenital muscular dystrophy due to integrin alpha-7 deficiency 0 2 2
Congenital myasthenic syndrome 11 2 0 2
Congenital myasthenic syndrome 13 0 2 2
Congenital myasthenic syndrome 2C 1 1 2
Congenital stationary night blindness 1D 0 2 2
Cornelia de Lange syndrome 1 2 0 2
Cornelia de Lange syndrome 4 1 1 2
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 1 1 2
Craniofrontonasal syndrome 1 1 2
Craniosynostosis 7 0 2 2
DOORS syndrome 1 1 2
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 0 2 2
Dermatitis, atopic, 2 0 2 2
Dermatofibrosis lenticularis disseminata 0 2 2
Developmental and epileptic encephalopathy 91 0 2 2
Developmental and epileptic encephalopathy, 32 1 1 2
Developmental and epileptic encephalopathy, 50 0 2 2
Developmental and epileptic encephalopathy, 80 1 1 2
Developmental delay and seizures with or without movement abnormalities 2 0 2
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 1 1 2
Dilated cardiomyopathy 1A 1 1 2
Distal arthrogryposis type 2B1 2 0 2
Dystonia 12 2 0 2
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 2 2
Eichsfeld type congenital muscular dystrophy 2 0 2
Epidermolysis bullosa simplex 5B, with muscular dystrophy 1 1 2
Exostoses, multiple, type 2 2 0 2
Exudative vitreoretinopathy 4 0 2 2
Familial Mediterranean fever, autosomal dominant 2 0 2
Familial cancer of breast 1 1 2
Familial hypobetalipoproteinemia 1 0 2 2
Familial medullary thyroid carcinoma 2 0 2
Familial prostate cancer 2 0 2
Familial renal glucosuria 0 2 2
Fanconi anemia complementation group C 1 1 2
Fanconi anemia complementation group I 1 1 2
Focal segmental glomerulosclerosis 2 0 2 2
Focal segmental glomerulosclerosis 4, susceptibility to 2 0 2
Focal segmental glomerulosclerosis and neurodevelopmental syndrome 2 0 2
GNE myopathy 1 1 2
Galactosylceramide beta-galactosidase deficiency 2 0 2
Gaucher disease type I 2 0 2
Glutaric aciduria, type 1 2 0 2
Glycogen storage disease type III 2 0 2
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 2 2
Hajdu-Cheney syndrome 1 1 2
Hao-Fountain syndrome due to USP7 mutation 1 1 2
Hereditary angioedema type 1 1 1 2
Hereditary factor IX deficiency disease 0 2 2
Hereditary fructosuria 2 0 2
Hereditary pancreatitis 1 1 2
Hereditary spastic paraplegia 35 1 1 2
Hereditary spastic paraplegia 47 1 1 2
Heterotaxy, visceral, 12, autosomal 0 2 2
Heterotopia, periventricular, X-linked dominant 1 1 2
Hydrocephalus, nonsyndromic, autosomal recessive 1 1 1 2
Hypercholesterolemia, autosomal dominant, type B 1 1 2
Hyperphosphatasia with intellectual disability syndrome 2 0 2 2
Hypertriglyceridemia 2 0 2 2
Hypertrophic cardiomyopathy 2 0 2 2
Hypertrophic cardiomyopathy 7 1 1 2
Hypochondroplasia 2 0 2
Hypohidrotic X-linked ectodermal dysplasia 1 1 2
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 2 2
Hypotonia, ataxia, and delayed development syndrome 1 1 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 1 1 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 1 2
Imagawa-Matsumoto syndrome 0 2 2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 2 2
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 2 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1 1 2
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 1 2
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 1 1 2
Intellectual disability, autosomal dominant 14 1 1 2
Intellectual disability, autosomal dominant 24 1 1 2
Intellectual disability, autosomal dominant 30 0 2 2
Intellectual disability, autosomal dominant 45 0 2 2
Intellectual disability, autosomal dominant 5 1 1 2
Intellectual disability, autosomal dominant 51 2 0 2
Intellectual disability, autosomal dominant 52 0 2 2
Intellectual disability, autosomal recessive 47 0 2 2
Intellectual disability, autosomal recessive 7 0 2 2
Isolated cryptophthalmia 1 1 2
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 2 2
Leber congenital amaurosis 1 0 2 2
Leber congenital amaurosis 9 2 0 2
Legius syndrome 2 0 2
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 1 1 2
Lynch syndrome 1 2 0 2
Malignant hyperthermia, susceptibility to, 5 0 2 2
Mandibuloacral dysplasia with type B lipodystrophy 0 2 2
Meckel syndrome, type 6 0 2 2
Meier-Gorlin syndrome 1 1 1 2
Melanoma, cutaneous malignant, susceptibility to, 2 1 1 2
Microcephalic primordial dwarfism, Alazami type 0 2 2
Microcephaly 6, primary, autosomal recessive 0 2 2
Microcephaly 8, primary, autosomal recessive 2 0 2
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2 0 2
Microcephaly, normal intelligence and immunodeficiency 1 1 2
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2 0 2
Mitochondrial complex I deficiency, nuclear type 21 1 1 2
Mitochondrial complex IV deficiency, nuclear type 1 2 0 2
Mucolipidosis type IV 1 1 2
Mucopolysaccharidosis, MPS-II 0 2 2
Mucopolysaccharidosis, MPS-IV-A 1 1 2
Multiple congenital anomalies-hypotonia-seizures syndrome 1 1 1 2
Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 2 2
Myasthenic syndrome, congenital, 25, presynaptic 1 1 2
Myopathy, proximal, and ophthalmoplegia 0 2 2
Nager syndrome 2 0 2
Nephropathic cystinosis 1 1 2
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2 0 2
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 1 2
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 2 2
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 2 2
Neurodevelopmental disorder with speech impairment and dysmorphic facies 1 1 2
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 2 2
Neurofibromatosis, type 2 2 0 2
Neuronal ceroid lipofuscinosis 1 2 0 2
Neuronal ceroid lipofuscinosis 3 1 1 2
Neuronopathy, distal hereditary motor, autosomal recessive 7 2 0 2
Neuroocular syndrome 1 1 1 2
Noonan syndrome 3 1 1 2
Noonan syndrome 4 2 0 2
Occipital pachygyria and polymicrogyria 1 1 2
Oculocerebrofacial syndrome, Kaufman type 1 1 2
Oculocutaneous albinism type 4 1 1 2
Oligodontia-cancer predisposition syndrome 0 2 2
Ornithine aminotransferase deficiency 0 2 2
Osteogenesis imperfecta, perinatal lethal 2 0 2
PEHO syndrome 0 2 2
POLR3A-related disorder 2 0 2
Phelan-McDermid syndrome 2 0 2
Pheochromocytoma/paraganglioma syndrome 2 0 2 2
Pitt-Hopkins syndrome 2 0 2
Polycystic kidney disease 9, susceptibility to 2 0 2
Pontocerebellar hypoplasia type 2A 1 1 2
Pontocerebellar hypoplasia type 7 0 2 2
Pontocerebellar hypoplasia, type 13 0 2 2
Pontocerebellar hypoplasia, type 1D 1 1 2
Proteinuria, chronic benign 0 2 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 2 2
Pulmonary hypertension, primary, 2 1 1 2
Pyruvate carboxylase deficiency 0 2 2
Renal cysts and diabetes syndrome 0 2 2
Renal tubular acidosis with progressive nerve deafness 2 0 2
Retinitis pigmentosa 28 2 0 2
Retinitis pigmentosa 37 2 0 2
Rienhoff syndrome 0 2 2
Rubinstein-Taybi syndrome due to CREBBP mutations 0 2 2
Schaaf-Yang syndrome 1 1 2
Severe X-linked myotubular myopathy 0 2 2
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 2 0 2
Sifrim-Hitz-Weiss syndrome 0 2 2
Snijders Blok-Campeau syndrome 1 1 2
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 0 2 2
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 0 2 2
Spinocerebellar ataxia 48 0 2 2
Spinocerebellar ataxia type 25 1 1 2
Stickler syndrome type 2 0 2 2
Tay-Sachs disease 1 1 2
Telangiectasia, hereditary hemorrhagic, type 1 0 2 2
Thyroid dyshormonogenesis 6 1 1 2
UDPglucose-4-epimerase deficiency 0 2 2
Uncombable hair syndrome 1 0 2 2
Usher syndrome type 3A 2 0 2
Usmani-Riazuddin syndrome, autosomal dominant 1 1 2
Van der Woude syndrome 1 1 1 2
X-linked CACNA1F-related disorders 2 0 2
X-linked FLNA-related disorders 1 1 2
X-linked L1CAM-related disorders 1 1 2
X-linked agammaglobulinemia 0 2 2
X-linked chondrodysplasia punctata 1 0 2 2
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 2 2
autosomal recessive MVK-related disorders 0 2 2
2-aminoadipic 2-oxoadipic aciduria 1 0 1
3-methylglutaconic aciduria, type VIIA 0 1 1
46,XY sex reversal 1 0 1 1
5-Oxoprolinase deficiency 0 1 1
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 0 1 1
ABCA4-related disorder 1 0 1
ABCA4-related retinopathy 1 0 1
ALDH18A1-related de Barsy syndrome 0 1 1
ALG6-congenital disorder of glycosylation 1C 1 0 1
ALG8 congenital disorder of glycosylation 1 0 1
Abortive cerebellar ataxia 1 0 1
Achondroplasia 1 0 1
Acne inversa, familial, 2 1 0 1
Acral peeling skin syndrome 1 0 1
Acrocallosal syndrome 1 0 1
Acute intermittent porphyria 1 0 1
Adams-Oliver syndrome 2 0 1 1
Adams-Oliver syndrome 6 0 1 1
Age related macular degeneration 13 1 0 1
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 0 1 1
Aicardi-Goutieres syndrome 2 1 0 1
Aicardi-Goutieres syndrome 9 1 0 1
Alagille syndrome due to a NOTCH2 point mutation 0 1 1
Alexander disease 0 1 1
Alpha-1-antitrypsin deficiency 1 0 1
Alzheimer disease 3 0 1 1
Amelogenesis imperfecta hypomaturation type 2A2 1 0 1
Amelogenesis imperfecta hypomaturation type 2A4 0 1 1
Amyotrophic lateral sclerosis 27, juvenile 0 1 1
Amyotrophic lateral sclerosis type 4 0 1 1
Andersen Tawil syndrome 0 1 1
Aneurysm-osteoarthritis syndrome 0 1 1
Aniridia 1 0 1 1
Anterior segment dysgenesis 7 0 1 1
Aortic aneurysm, familial thoracic 4 0 1 1
Aortic aneurysm, familial thoracic 6 0 1 1
Arrhythmogenic right ventricular dysplasia 11 0 1 1
Aspartylglucosaminuria 1 0 1
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 1 0 1
Atrial fibrillation, familial, 18 0 1 1
Autism, susceptibility to, 17 1 0 1
Autosomal Dominant TRPV4-Related Disorders 1 0 1
Autosomal dominant ABCC8-related disorders 0 1 1
Autosomal dominant ACTC1-related disorders 0 1 1
Autosomal dominant ALPL-related disorders 1 0 1
Autosomal dominant APOA5-related disorders 0 1 1
Autosomal dominant ARID1B-related disorders 1 0 1
Autosomal dominant ATP1A3-related disorders 1 0 1
Autosomal dominant BARD1-related disorders 1 0 1
Autosomal dominant BEST1-related disorders 0 1 1
Autosomal dominant BMP4-related disorders 0 1 1
Autosomal dominant C19orf12-related disorders 1 0 1
Autosomal dominant CACNA1G-related disorders 0 1 1
Autosomal dominant COL1A2-related disorders 0 1 1
Autosomal dominant COL4A4-related disorders 0 1 1
Autosomal dominant CTCF-related disorders 0 1 1
Autosomal dominant DSPP-related disorders 0 1 1
Autosomal dominant ERF-related disorders 1 0 1
Autosomal dominant FBN1-related disorders 1 0 1
Autosomal dominant FLG-related disorders 0 1 1
Autosomal dominant GABBR2-related disorders 1 0 1
Autosomal dominant GJB2-related disorders 1 0 1
Autosomal dominant GRIN2B-related disorders 0 1 1
Autosomal dominant HNF1A-related disorders 0 1 1
Autosomal dominant HNF1B-related disorders 0 1 1
Autosomal dominant INF2-related disorders 0 1 1
Autosomal dominant KCNMA1-related disorders 0 1 1
Autosomal dominant KIT-related disorders 1 0 1
Autosomal dominant KRAS-related disorders 1 0 1
Autosomal dominant LDLR-related disorders 0 1 1
Autosomal dominant LEMD3-related disorders 0 1 1
Autosomal dominant MYH3-related disorders 0 1 1
Autosomal dominant MYH6-related disorders 0 1 1
Autosomal dominant NKX2-1-related disorders 0 1 1
Autosomal dominant NOTCH1-related disorders 0 1 1
Autosomal dominant NR5A1-related disorders 0 1 1
Autosomal dominant PAFAH1B1-related disorders 1 0 1
Autosomal dominant PRRT2-related disorders 1 0 1
Autosomal dominant Parkinson disease 8 1 0 1
Autosomal dominant SCN1A-related disorders 1 0 1
Autosomal dominant SCN4A-related disorders 0 1 1
Autosomal dominant SIX1-related disorders 0 1 1
Autosomal dominant SLC4A1-related disorders 0 1 1
Autosomal dominant SPTAN1-related disorders 0 1 1
Autosomal dominant TCF7L2-related disorders 0 1 1
Autosomal dominant TPM1-related disorders 0 1 1
Autosomal dominant TRAF3-related disorders 0 1 1
Autosomal dominant TSHR-related disorders 0 1 1
Autosomal dominant ZFHX3-related disorders 0 1 1
Autosomal dominant ZFHX4-related disorders 1 0 1
Autosomal dominant and autosomal recessive ABCA1-related disorders 0 1 1
Autosomal dominant and autosomal recessive ALPL-related disorders 1 0 1
Autosomal dominant and autosomal recessive CD46-related disorders 0 1 1
Autosomal dominant and autosomal recessive NAGLU-related disorders 0 1 1
Autosomal dominant and autosomal recessive PIEZO2-related disorders 0 1 1
Autosomal dominant and autosomal recessive RYR1-related disorders 0 1 1
Autosomal dominant and autosomal recessive SCN4A-related disorders 0 1 1
Autosomal dominant cancer predisposition 0 1 1
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 1 0 1
Autosomal dominant nonsyndromic hearing loss 28 0 1 1
Autosomal dominant nonsyndromic hearing loss 3A 0 1 1
Autosomal dominant nonsyndromic hearing loss 41 0 1 1
Autosomal dominant nonsyndromic hearing loss 7 0 1 1
Autosomal dominant nonsyndromic hearing loss 9 1 0 1
Autosomal dominant osteopetrosis 1 1 0 1
Autosomal dominant pseudohypoaldosteronism type 1 0 1 1
Autosomal dominant sensory ataxia 1 1 0 1
Autosomal recessive ABCB4-related disorders 1 0 1
Autosomal recessive AIPL1-related disorders 1 0 1
Autosomal recessive AMACR-related disorders 0 1 1
Autosomal recessive BBS1-related disorders 0 1 1
Autosomal recessive BBS2-related disorders 0 1 1
Autosomal recessive BCS1L-related disorders 1 0 1
Autosomal recessive CHRNB1-related disorders 0 1 1
Autosomal recessive CHRNE-related disorders 1 0 1
Autosomal recessive CLCNKB-related disorders 1 0 1
Autosomal recessive CLPB-related disorders 0 1 1
Autosomal recessive COASY-related disorders 0 1 1
Autosomal recessive COQ2-related disorders 1 0 1
Autosomal recessive CPT2-related disorders 0 1 1
Autosomal recessive CR2-related disorders 0 1 1
Autosomal recessive CRB1-related disorders 0 1 1
Autosomal recessive CRB2-related disorders 1 0 1
Autosomal recessive DGUOK-related disorders 0 1 1
Autosomal recessive DNA2-related disorders 0 1 1
Autosomal recessive DOK7-related disorders 0 1 1
Autosomal recessive DOPA responsive dystonia 0 1 1
Autosomal recessive EFEMP2-related disorders 0 1 1
Autosomal recessive ENPP1-related disorders 1 0 1
Autosomal recessive EPG5-related disorders 1 0 1
Autosomal recessive ERCC4-related disorders 1 0 1
Autosomal recessive ERCC6-related disorders 0 1 1
Autosomal recessive FAT4-related disorders 0 1 1
Autosomal recessive FGFR1-related disorders 0 1 1
Autosomal recessive FKRP-related disorders 0 1 1
Autosomal recessive FLG-related disorders 0 1 1
Autosomal recessive GBA-related disorders 0 1 1
Autosomal recessive GBE1-related disorders 0 1 1
Autosomal recessive GMPPB-related disorders 0 1 1
Autosomal recessive GOSR2-related disorders 1 0 1
Autosomal recessive HEXA-related disorders 1 0 1
Autosomal recessive HSPG2-related disorders 1 0 1
Autosomal recessive IDUA-related disorders 1 0 1
Autosomal recessive IFT140-related disorders 0 1 1
Autosomal recessive KIAA0586-related disorders 0 1 1
Autosomal recessive LRP4-related disorders 0 1 1
Autosomal recessive LRP5-related disorders 0 1 1
Autosomal recessive MPV17-related disorders 0 1 1
Autosomal recessive MTFMT-related disorders 1 0 1
Autosomal recessive MUSK-related disorders 0 1 1
Autosomal recessive MUTYH-related disorders 0 1 1
Autosomal recessive MYH2-related disorders 0 1 1
Autosomal recessive NBAS-related disorders 0 1 1
Autosomal recessive NEU1-related disorders 0 1 1
Autosomal recessive NMNAT1-related disorders 1 0 1
Autosomal recessive NUP133-related disorders 0 1 1
Autosomal recessive OCA2-related disorders 1 0 1
Autosomal recessive OTOF-related disorders 0 1 1
Autosomal recessive PEX1-related disorders 1 0 1
Autosomal recessive PEX12-related disorders 1 0 1
Autosomal recessive PEX6-related disorders 0 1 1
Autosomal recessive PLEKHG5-related disorders 0 1 1
Autosomal recessive PNPT1-related disorders 0 1 1
Autosomal recessive POMGNT1-related disorders 1 0 1
Autosomal recessive RAG1-related disorders 1 0 1
Autosomal recessive RAPSN-related disorders 1 0 1
Autosomal recessive RDH5-related disorders 1 0 1
Autosomal recessive SERPINA1-related disorders 1 0 1
Autosomal recessive SLC26A4-related disorders 1 0 1
Autosomal recessive SPTA1-related disorders 1 0 1
Autosomal recessive TBC1D24-related disorders 0 1 1
Autosomal recessive TK2-related disorders 0 1 1
Autosomal recessive TMEM216-related disorders 1 0 1
Autosomal recessive TOR1AIP1-related disorders 0 1 1
Autosomal recessive TPP1-related disorders 1 0 1
Autosomal recessive TRIM32-related disorders 0 1 1
Autosomal recessive VPS33B-related disorders 0 1 1
Autosomal recessive WDR35-related disorders 1 0 1
Autosomal recessive WWOX-related disorders 0 1 1
Autosomal recessive XYLT1-related disorders 0 1 1
Autosomal recessive ZMPSTE24-related disorders 1 0 1
Autosomal recessive ZNF423-related disorders 0 1 1
Autosomal recessive bestrophinopathy 0 1 1
Autosomal recessive congenital ichthyosis 1 1 0 1
Autosomal recessive congenital ichthyosis 3 0 1 1
Autosomal recessive early-onset Parkinson disease 7 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2E 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 1 1
Autosomal recessive nonsyndromic hearing loss 21 0 1 1
Autosomal recessive nonsyndromic hearing loss 28 1 0 1
Autosomal recessive nonsyndromic hearing loss 4 0 1 1
Autosomal recessive nonsyndromic hearing loss 76 0 1 1
Autosomal recessive nonsyndromic hearing loss 77 1 0 1
Autosomal recessive nonsyndromic hearing loss 79 1 0 1
Autosomal recessive nonsyndromic hearing loss 86 1 0 1
Autosomal recessive nonsyndromic hearing loss 9 0 1 1
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 1 0 1
Autosomal recessive spinocerebellar ataxia 10 1 0 1
Autosomal recessive spinocerebellar ataxia 17 0 1 1
Autosomal recessive spinocerebellar ataxia 7 1 0 1
Autosomal semidominant ABCC8-related disorders 1 0 1
Autosomal semidominant APOB-related disorders 0 1 1
Autosomal semidominant CFAP43-related disorders 1 0 1
Autosomal semidominant RYR1-related disorders 0 1 1
Autosomal. recessive NPHP4-related disorders 1 0 1
Axenfeld-Rieger syndrome type 1 0 1 1
Baller-Gerold syndrome 0 1 1
Bardet-Biedl syndrome 1 1 0 1
Bardet-Biedl syndrome 10 1 0 1
Bardet-Biedl syndrome 4 0 1 1
Bartter disease type 1 0 1 1
Basal cell nevus syndrome 1 1 0 1
Beare-Stevenson cutis gyrata syndrome 1 0 1
Beckwith-Wiedemann syndrome 0 1 1
Benign hereditary chorea 0 1 1
Beta-D-mannosidosis 0 1 1
Bilateral frontoparietal polymicrogyria 0 1 1
Birt-Hogg-Dube syndrome 1 1 0 1
Blau syndrome 0 1 1
Bloom syndrome 0 1 1
Bone marrow failure syndrome 4 0 1 1
Borjeson-Forssman-Lehmann syndrome 1 0 1
Brain-lung-thyroid syndrome 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 3 0 1 1
Breast-ovarian cancer, familial, susceptibility to, 5 1 0 1
Brittle cornea syndrome 1 0 1 1
Brittle cornea syndrome 2 0 1 1
CARASIL syndrome 0 1 1
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1 0 1
CTCF-related neurodevelopmental disorder 1 0 1
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 1 0 1
Camptomelic dysplasia 1 0 1
Cardiac, facial, and digital anomalies with developmental delay 1 0 1
Cardiofaciocutaneous syndrome 4 1 0 1
Cardiomyopathy, familial restrictive, 1 1 0 1
Carnitine palmitoyl transferase 1A deficiency 0 1 1
Cataract 1 multiple types 0 1 1
Cataract 11 multiple types 0 1 1
Cataract 21 multiple types 0 1 1
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 1 1
Catecholaminergic polymorphic ventricular tachycardia 2 0 1 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0 1 1
Cerebellar-facial-dental syndrome 0 1 1
Cerebroretinal microangiopathy with calcifications and cysts 1 0 1 1
Charcot-Marie-Tooth disease axonal type 2CC 0 1 1
Charcot-Marie-Tooth disease axonal type 2F 1 0 1
Charcot-Marie-Tooth disease axonal type 2K 0 1 1
Charcot-Marie-Tooth disease axonal type 2S 1 0 1
Charcot-Marie-Tooth disease axonal type 2T 1 0 1
Charcot-Marie-Tooth disease type 2B1 1 0 1
Charcot-Marie-Tooth disease type 2E 1 0 1
Charcot-Marie-Tooth disease type 2R 0 1 1
Charcot-Marie-Tooth disease type 4B2 0 1 1
Charcot-Marie-Tooth disease type 4C 1 0 1
Charcot-Marie-Tooth disease type 4J 1 0 1
Cholestanol storage disease 1 0 1
Cholesteryl ester storage disease 0 1 1
Chondrodysplasia punctata 2 X-linked dominant 1 0 1
Chudley-McCullough syndrome 1 0 1
Chédiak-Higashi syndrome 0 1 1
Ciliary dyskinesia, primary, 37 1 0 1
Ciliary dyskinesia, primary, 40 0 1 1
Ciliary dyskinesia, primary, 43 0 1 1
Ciliary dyskinesia, primary, 49, without situs inversus 0 1 1
Classic dopamine transporter deficiency syndrome 0 1 1
Cleft palate, proliferative retinopathy, and developmental delay 0 1 1
Cockayne syndrome type 1 1 0 1
Cockayne syndrome type 2 1 0 1
Coffin-Siris syndrome 1 0 1 1
Coffin-Siris syndrome 12 1 0 1
Coffin-Siris syndrome 7 0 1 1
Cognitive impairment with or without cerebellar ataxia 0 1 1
Combined immunodeficiency due to DOCK8 deficiency 0 1 1
Combined oxidative phosphorylation defect type 13 0 1 1
Combined oxidative phosphorylation deficiency 32 0 1 1
Combined oxidative phosphorylation deficiency 35 0 1 1
Combined oxidative phosphorylation deficiency 37 0 1 1
Combined oxidative phosphorylation deficiency 41 0 1 1
Combined oxidative phosphorylation deficiency 55 0 1 1
Complement component 6 deficiency 1 0 1
Complement component 9 deficiency 1 0 1
Complex cortical dysplasia with other brain malformations 5 0 1 1
Compton-North congenital myopathy 0 1 1
Congenital adrenal hypoplasia, X-linked 1 0 1
Congenital afibrinogenemia 0 1 1
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 1 1
Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 1 1
Congenital disorder of glycosylation, type iit 0 1 1
Congenital heart defects and skeletal malformations syndrome 1 0 1
Congenital heart defects, multiple types, 4 1 0 1
Congenital myasthenic syndrome 10 0 1 1
Congenital myasthenic syndrome 8 0 1 1
Congenital nongoitrous hypothyroidism 6 1 0 1
Congenital primary aphakia 1 0 1
Congenital stationary night blindness 1C 0 1 1
Contractures, pterygia, and variable skeletal fusions syndrome 1B 1 0 1
Cortical dysplasia-focal epilepsy syndrome 1 0 1
Cowden syndrome 4 1 0 1
Cutaneous mastocytosis 0 1 1
Cyclical neutropenia 1 0 1
Cystathioninuria 0 1 1
Deficiency of 2-methylbutyryl-CoA dehydrogenase 1 0 1
Deficiency of butyrylcholinesterase 0 1 1
Deficiency of iodide peroxidase 1 0 1
Dejerine-Sottas disease 0 1 1
Developmental and epileptic encephalopathy 113 0 1 1
Developmental and epileptic encephalopathy, 13 0 1 1
Developmental and epileptic encephalopathy, 17 0 1 1
Developmental and epileptic encephalopathy, 18 0 1 1
Developmental and epileptic encephalopathy, 28 0 1 1
Developmental and epileptic encephalopathy, 29 0 1 1
Developmental and epileptic encephalopathy, 31A 1 0 1
Developmental and epileptic encephalopathy, 37 1 0 1
Developmental and epileptic encephalopathy, 38 1 0 1
Developmental and epileptic encephalopathy, 44 1 0 1
Developmental and epileptic encephalopathy, 5 1 0 1
Developmental and epileptic encephalopathy, 52 0 1 1
Developmental and epileptic encephalopathy, 64 1 0 1
Developmental and epileptic encephalopathy, 75 0 1 1
Developmental and epileptic encephalopathy, 79 0 1 1
Developmental and epileptic encephalopathy, 8 1 0 1
Developmental and epileptic encephalopathy, 9 1 0 1
Developmental delay with or without epilepsy 0 1 1
Developmental delay with variable intellectual disability and dysmorphic facies 1 0 1
Developmental delay with variable neurologic and brain abnormalities 1 0 1
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 1 1
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 1 1
Diabetes insipidus, nephrogenic, X-linked 0 1 1
Dihydropyrimidinase deficiency 0 1 1
Dilated cardiomyopathy 1CC 0 1 1
Dilated cardiomyopathy 1G 1 0 1
Dilated cardiomyopathy 1HH 1 0 1
Distal arthrogryposis type 5D 1 0 1
Distichiasis-lymphedema syndrome 0 1 1
Dystonia 22, adult-onset 0 1 1
Dystonia 28, childhood-onset 1 0 1
Dystonia 5 1 0 1
Early-onset generalized limb-onset dystonia 1 0 1
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 1 1
Ectopia lentis 1, isolated, autosomal dominant 0 1 1
Ehlers-Danlos syndrome, arthrochalasia type, 2 0 1 1
Ehlers-Danlos syndrome, classic type, 1 1 0 1
Ehlers-Danlos syndrome, classic-like, 2 0 1 1
El Hayek-Chahrour neurodevelopmental disorder 0 1 1
Elliptocytosis 2 0 1 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 0 1
Encephalopathy due to GLUT1 deficiency 1 0 1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 0 1 1
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 0 1 1
Epilepsy, familial adult myoclonic, 5 0 1 1
Epilepsy, familial temporal lobe, 1 1 0 1
Epilepsy, progressive myoclonic, 11 0 1 1
Epiphyseal dysplasia, multiple, 2 0 1 1
Episodic ataxia type 1 1 0 1
Ethylmalonic encephalopathy 1 0 1
Exostoses, multiple, type 1 0 1 1
FLG-related disorder 1 0 1
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 0 1 1
Facioscapulohumeral muscular dystrophy 2 1 0 1
Familial Mediterranean fever 0 1 1
Familial adenomatous polyposis 1 1 0 1
Familial adenomatous polyposis 3 1 0 1
Familial dysfibrinogenemia 1 0 1
Familial infantile myasthenia 1 0 1
Familial porphyria cutanea tarda 1 0 1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 1 0 1
Familial visceral amyloidosis, Ostertag type 0 1 1
Fanconi anemia complementation group A 1 0 1
Fanconi anemia complementation group D1 1 0 1
Fanconi anemia complementation group J 1 0 1
Fanconi anemia complementation group P 0 1 1
Fanconi anemia complementation group R 0 1 1
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 0 1 1
Febrile seizures, familial, 11 0 1 1
Fibrochondrogenesis 1 1 0 1
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement 0 1 1
Fibrosis, neurodegeneration, and cerebral angiomatosis 1 0 1
Fibrous dysplasia of jaw 0 1 1
Floating-Harbor syndrome 1 0 1
Focal segmental glomerulosclerosis 9 1 0 1
Fontaine progeroid syndrome 1 0 1
Freeman-Sheldon syndrome 1 0 1
Friedreich ataxia 1 1 0 1
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 1 0 1
Gaucher disease type II 0 1 1
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 1 0 1
Gaze palsy, familial horizontal, with progressive scoliosis, 2 1 0 1
Generalized epilepsy with febrile seizures plus, type 1 1 0 1
Generalized epilepsy with febrile seizures plus, type 9 1 0 1
Genitourinary and/or brain malformation syndrome 1 0 1
Gillespie syndrome 0 1 1
Glanzmann thrombasthenia 1 1 0 1
Glaucoma 1, open angle, H 0 1 1
Glaucoma 3, primary congenital, E 0 1 1
Glucose-6-phosphate transport defect 1 0 1
Glycogen storage disease IXc 0 1 1
Glycogen storage disease IXd 0 1 1
Glycogen storage disease, type IV 1 0 1
Glycosylphosphatidylinositol biosynthesis defect 18 0 1 1
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 0 1 1
Growth delay due to insulin-like growth factor I resistance 0 1 1
Hb SS disease 1 0 1
Hearing loss, X-linked 4 0 1 1
Hearing loss, autosomal recessive 115 0 1 1
Hearing loss, autosomal recessive 57 1 0 1
Hengel-Maroofian-Schols syndrome 0 1 1
Hereditary antithrombin deficiency 0 1 1
Hereditary breast ovarian cancer syndrome 1 0 1
Hereditary diffuse gastric adenocarcinoma 1 0 1
Hereditary insensitivity to pain with anhidrosis 1 0 1
Hereditary leiomyomatosis and renal cell cancer 1 0 1
Hereditary spastic paraplegia 15 0 1 1
Hereditary spastic paraplegia 26 0 1 1
Hereditary spastic paraplegia 49 0 1 1
Hereditary spastic paraplegia 54 0 1 1
Hereditary spastic paraplegia 55 0 1 1
Hereditary spastic paraplegia 5A 0 1 1
Hereditary spherocytosis type 1 1 0 1
Hereditary spherocytosis type 2 0 1 1
Hermansky-Pudlak syndrome 1 1 0 1
Heterotaxy, visceral, 14, autosomal 0 1 1
Heterotaxy, visceral, 5, autosomal 0 1 1
Heterotaxy, visceral, 6, autosomal 1 0 1
Holoprosencephaly 5 0 1 1
Holt-Oram syndrome 0 1 1
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 1 1
Hyperalphalipoproteinemia 1 0 1 1
Hypercalcemia, infantile, 2 0 1 1
Hypercholesterolemia, autosomal dominant, 3 0 1 1
Hyperekplexia 3 0 1 1
Hyperkalemic periodic paralysis 0 1 1
Hyperphenylalaninemia due to DNAJC12 deficiency 1 0 1
Hypertrophic cardiomyopathy 10 0 1 1
Hypertrophic cardiomyopathy 11 0 1 1
Hypervalinemia and hyperleucine-isoleucinemia 0 1 1
Hypogonadotropic hypogonadism 4 with or without anosmia 0 1 1
Hypokalemic periodic paralysis, type 1 1 0 1
Hypokalemic periodic paralysis, type 2 0 1 1
Hypomyelinating leukodystrophy 10 0 1 1
Hypomyelinating leukodystrophy 3 0 1 1
Hypomyelinating leukodystrophy 6 1 0 1
Hypothyroidism due to TSH receptor mutations 0 1 1
Imerslund-Grasbeck syndrome type 1 0 1 1
Immunodeficiency 74, COVID-19-related, X-linked 0 1 1
Immunodeficiency 95 0 1 1
Immunodeficiency due to ficolin3 deficiency 0 1 1
Immunodeficiency, common variable, 10 0 1 1
Immunodeficiency, common variable, 12 0 1 1
Inflammatory bowel disease 1 0 1 1
Inflammatory bowel disease 28 1 0 1
Inherited prekallikrein deficiency 1 0 1
Intellectual developmental disorder 62 1 0 1
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 1 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 1 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 1 1
Intellectual developmental disorder with seizures and language delay 1 0 1
Intellectual developmental disorder, X-linked 111 0 1 1
Intellectual developmental disorder, X-linked, syndromic 37 1 0 1
Intellectual developmental disorder, autosomal dominant 65 0 1 1
Intellectual developmental disorder, autosomal dominant 66 0 1 1
Intellectual developmental disorder, autosomal recessive 67 1 0 1
Intellectual developmental disorder, autosomal recessive 78 0 1 1
Intellectual developmental disorder, autosomal recessive 82 0 1 1
Intellectual disability and myopathy syndrome 0 1 1
Intellectual disability, X-linked 99 0 1 1
Intellectual disability, X-linked 99, syndromic, female-restricted 1 0 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 1
Intellectual disability, X-linked, syndromic, Houge type 1 0 1
Intellectual disability, autosomal dominant 16 0 1 1
Intellectual disability, autosomal dominant 22 1 0 1
Intellectual disability, autosomal dominant 29 1 0 1
Intellectual disability, autosomal dominant 55, with seizures 0 1 1
Intellectual disability, autosomal recessive 27 0 1 1
Intellectual disability, autosomal recessive 34 0 1 1
Intellectual disability, autosomal recessive 53 1 0 1
Intellectual disability, autosomal recessive 57 0 1 1
Intellectual disability, autosomal recessive 66 0 1 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 1
Intellectual disability-strabismus syndrome 0 1 1
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 0 1 1
Isolated microphthalmia 8 1 0 1
Johanson-Blizzard syndrome 0 1 1
Joubert syndrome 13 0 1 1
Joubert syndrome 23 1 0 1
Joubert syndrome 24 0 1 1
Joubert syndrome 26 0 1 1
Joubert syndrome 33 0 1 1
Juvenile polyposis syndrome 1 0 1
Juvenile retinoschisis 1 0 1
Kabuki syndrome 2 1 0 1
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 1 0 1
Koolen-de Vries syndrome 0 1 1
L-2-hydroxyglutaric aciduria 0 1 1
LAMA2-related disorder 1 0 1
Landau-Kleffner syndrome 0 1 1
Leri-Weill dyschondrosteosis 1 0 1
Lethal Kniest-like syndrome 0 1 1
Leukoencephalopathy with vanishing white matter 1 1 0 1
Leukoencephalopathy with vanishing white matter 2 1 0 1
Leukoencephalopathy with vanishing white matter 3 0 1 1
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 1 0 1
Lewy body dementia 0 1 1
Lipoic acid synthetase deficiency 0 1 1
Lisch epithelial corneal dystrophy 1 0 1
Loeys-Dietz syndrome 4 0 1 1
Lymphatic malformation 6 1 0 1
Lynch syndrome 5 1 0 1
Lysinuric protein intolerance 0 1 1
MEGF8-related Carpenter syndrome 0 1 1
MFN2-related disorder 1 0 1
MT-ND4-related disorders 1 0 1
MT-ND5-related disorders 0 1 1
MT-TH-related disorders 0 1 1
MT-TK-related disorder 1 0 1
MT-TL1-related disorders 1 0 1
MYH10-related disorder 1 0 1
Macrocephaly, acquired, with impaired intellectual development 1 0 1
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 1 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 1 1
Macrothrombocytopenia, isolated, 1, autosomal dominant 0 1 1
Malan overgrowth syndrome 0 1 1
Mandibuloacral dysplasia with type A lipodystrophy 0 1 1
Maple syrup urine disease type 1A 1 0 1
Maple syrup urine disease type 2 0 1 1
Marshall syndrome 1 0 1
Mast syndrome 1 0 1
Megabladder, congenital 0 1 1
Meier-Gorlin syndrome 3 0 1 1
Menkes kinky-hair syndrome 0 1 1
Methemoglobinemia, alpha type 0 1 1
Methylmalonic aciduria, cblB type 1 0 1
Microcephalic osteodysplastic dysplasia, Saul-Wilson type 1 0 1
Microcephaly 7, primary, autosomal recessive 1 0 1
Microcephaly and chorioretinopathy 3 1 0 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 1 1
Miller syndrome 0 1 1
Mitochondrial DNA depletion syndrome 19 0 1 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 1 1
Mitochondrial complex 2 deficiency, nuclear type 2 0 1 1
Mitochondrial complex I deficiency, nuclear type 19 1 0 1
Mitochondrial complex I deficiency, nuclear type 29 0 1 1
Mitochondrial complex I deficiency, nuclear type 34 1 0 1
Mitochondrial complex II deficiency, nuclear type 1 0 1 1
Mitochondrial complex IV deficiency, nuclear type 11 1 0 1
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 0 1 1
Mitochondrial trifunctional protein deficiency 2 0 1 1
Mosaic variegated aneuploidy syndrome 2 1 0 1
Moyamoya disease 2 1 0 1
Mucocutaneous ulceration, chronic 0 1 1
Mucopolysaccharidosis, MPS-III-C 1 0 1
Multiple endocrine neoplasia type 2B 1 0 1
Multiple epiphyseal dysplasia type 1 0 1 1
Multiple epiphyseal dysplasia, Beighton type 1 0 1
Multiple mitochondrial dysfunctions syndrome 1 0 1 1
Multiple mitochondrial dysfunctions syndrome 4 1 0 1
Multiple mitochondrial dysfunctions syndrome 9b 0 1 1
Muscle AMP deaminase deficiency 1 0 1
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 1 1
Myoglobinuria, acute recurrent, autosomal recessive 0 1 1
Myopathy with abnormal lipid metabolism 0 1 1
Myopathy, congenital, with tremor 1 0 1
Myopathy, distal, 5 0 1 1
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 0 1 1
Nail-patella syndrome 1 0 1
Nance-Horan syndrome 1 0 1
Nemaline myopathy 8 0 1 1
Nephronophthisis 13 0 1 1
Nephrotic syndrome 16 0 1 1
Nephrotic syndrome, type 21 0 1 1
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0 1 1
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 1 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 1 0 1
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly 0 1 1
Neurodevelopmental disorder with hypotonia and gross motor and speech delay 0 1 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities 0 1 1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 1 0 1
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 1 1
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 1 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 1 0 1
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities 0 1 1
Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia 0 1 1
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 0 1 1
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 1 0 1
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 1 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 1 1
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities 0 1 1
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy 1 0 1
Neurofibromatosis-Noonan syndrome 0 1 1
Neuronal ceroid lipofuscinosis 5 1 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 11 0 1 1
Neuronopathy, distal hereditary motor, autosomal recessive 10 0 1 1
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 0 1
Neurooculocardiogenitourinary syndrome 1 0 1
Neuropathy, hereditary motor and sensory, type 6A 0 1 1
Neuropathy, hereditary sensory and autonomic, type 1C 0 1 1
Neuropathy, hereditary sensory and autonomic, type 2A 1 0 1
Neutral 1 amino acid transport defect 1 0 1
Neutropenia, severe congenital, 8, autosomal dominant 1 0 1
Noonan syndrome 12 0 1 1
Noonan syndrome 13 0 1 1
Noonan syndrome 5 1 0 1
Noonan syndrome 9 1 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 1
Noonan syndrome-like disorder with loose anagen hair 2 1 0 1
Norman-Roberts syndrome 1 0 1
Nystagmus 1, congenital, X-linked 1 0 1
Occult macular dystrophy 0 1 1
Oculocutaneous albinism type 3 1 0 1
Oculofaciocardiodental syndrome 1 0 1
Oculogastrointestinal-neurodevelopmental syndrome 0 1 1
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 1 0 1
Orofaciodigital syndrome V 1 0 1
Orthostatic hypotension 1 1 0 1
Osteogenesis imperfecta type 5 1 0 1
Osteogenesis imperfecta type 8 1 0 1
Otofacial neurodevelopmental syndrome 0 1 1
POLG-related disorder 1 0 1
POMGNT1-related disorder 1 0 1
Paget disease of bone 3 1 0 1
Palmoplantar keratoderma i, striate, focal, or diffuse 1 0 1
Pancreatic triacylglycerol lipase deficiency 0 1 1
Parkinson disease 24, autosomal dominant, susceptibility to 0 1 1
Parkinson disease, late-onset 1 0 1
Peripheral motor neuropathy, childhood-onset, biotin-responsive 1 0 1
Peroxisome biogenesis disorder 12A (Zellweger) 0 1 1
Peroxisome biogenesis disorder 1A (Zellweger) 1 0 1
Peroxisome biogenesis disorder 6A (Zellweger) 0 1 1
Peters plus syndrome 0 1 1
Pfeiffer syndrome 1 0 1
Pheochromocytoma/paraganglioma syndrome 1 1 0 1
Pheochromocytoma/paraganglioma syndrome 5 1 0 1
Phytanic acid storage disease 0 1 1
Pigmentary pallidal degeneration 1 0 1
Pigmentary retinal dystrophy 0 1 1
Pitt-Hopkins-like syndrome 2 0 1 1
Plasminogen deficiency, type I 1 0 1
Polycystic kidney disease 4 1 0 1
Polycystic liver disease 1 1 0 1
Pontocerebellar hypoplasia type 8 1 0 1
Posterior column ataxia-retinitis pigmentosa syndrome 1 0 1
Primary ciliary dyskinesia 15 1 0 1
Primary ciliary dyskinesia 17 1 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 0 1 1
Propionic acidemia 0 1 1
Proteus syndrome 1 0 1
Proximal myopathy with extrapyramidal signs 1 0 1
Pseudohypoaldosteronism, type IB1, autosomal recessive 0 1 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 0 1 1
Purine-nucleoside phosphorylase deficiency 1 0 1
Pyridoxine-dependent epilepsy 1 0 1
Pyruvate dehydrogenase phosphatase deficiency 1 0 1
RNU2-2P-related disorders 0 1 1
RPE65-related retinopathy 1 0 1
Radioulnar synostosis, nonsyndromic, susceptibility to 0 1 1
Rafiq syndrome 0 1 1
Rapp-Hodgkin syndrome 1 0 1
Recessive dystrophic epidermolysis bullosa 1 0 1
Regressive spondylometaphyseal dysplasia 0 1 1
Renpenning syndrome 1 0 1
Retinal cone dystrophy 4 0 1 1
Retinitis pigmentosa 45 0 1 1
Retinitis pigmentosa 59 1 0 1
Retinitis pigmentosa 66 0 1 1
Retinitis pigmentosa 67 0 1 1
Retinitis pigmentosa 88 0 1 1
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 0 1 1
Rhabdoid tumor predisposition syndrome 2 1 0 1
Right atrial isomerism 0 1 1
Rothmund-Thomson syndrome type 2 0 1 1
SCN8A-related disorder 0 1 1
SERPINA1-related disorder 1 0 1
SHANK2-related disorder 0 1 1
SLC12A2-related disorder 0 1 1
Schuurs-Hoeijmakers syndrome 1 0 1
Schwartz-Jampel syndrome type 1 0 1 1
Seckel syndrome 11 0 1 1
Seizures, benign familial neonatal, 2 0 1 1
Seizures-scoliosis-macrocephaly syndrome 0 1 1
Semidominant FLG-related disorders 1 0 1
Semidominant MFN2-related disorders 1 0 1
Severe X-linked intellectual disability, Gustavson type 0 1 1
Severe combined immunodeficiency due to DNA-PKcs deficiency 0 1 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 1
Short-rib thoracic dysplasia 11 with or without polydactyly 0 1 1
Short-rib thoracic dysplasia 19 with or without polydactyly 0 1 1
Simpson-Golabi-Behmel syndrome type 1 0 1 1
Sjögren-Larsson syndrome 0 1 1
Spastic ataxia 2 0 1 1
Spastic paraplegia 79A, autosomal dominant, with ataxia 0 1 1
Spastic paraplegia 80, autosomal dominant 0 1 1
Spastic paraplegia 83, autosomal recessive 0 1 1
Spinocerebellar ataxia 47 0 1 1
Spinocerebellar ataxia 50 0 1 1
Spinocerebellar ataxia type 14 0 1 1
Spinocerebellar ataxia type 21 1 0 1
Spinocerebellar ataxia, autosomal recessive 30 0 1 1
Spinocerebellar ataxia, autosomal recessive 31 0 1 1
Stankiewicz-Isidor syndrome 0 1 1
Stickler syndrome, type 5 0 1 1
Stickler syndrome, type I, nonsyndromic ocular 0 1 1
Succinate-semialdehyde dehydrogenase deficiency 1 0 1
Symmetrical dyschromatosis of extremities 1 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 1
Syndromic X-linked intellectual disability Raymond type 0 1 1
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 0 1 1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 1 1
TULP1-related disorder 0 1 1
Tatton-Brown-Rahman overgrowth syndrome 0 1 1
Telangiectasia, hereditary hemorrhagic, type 2 0 1 1
Temtamy syndrome 0 1 1
Testosterone 17-beta-dehydrogenase deficiency 1 0 1
Thanatophoric dysplasia type 1 1 0 1
Thanatophoric dysplasia, type 2 1 0 1
Thrombocythemia 2 0 1 1
Thrombocythemia 3 0 1 1
Thrombocytopenia 12 with or without myopathy 0 1 1
Thrombophilia due to activated protein C resistance 1 0 1
Thrombophilia due to thrombin defect 1 0 1
Thyroid dyshormonogenesis 1 1 0 1
Timothy syndrome 1 0 1
Tolchin-Le Caignec syndrome 1 0 1
Tooth agenesis, selective, 1 0 1 1
Tooth agenesis, selective, 4 1 0 1
Transient infantile hypertriglyceridemia and hepatosteatosis 0 1 1
Tremor, hereditary essential, 4 0 1 1
Trichorhinophalangeal dysplasia type I 1 0 1
Troyer syndrome 0 1 1
Tumor predisposition syndrome 3 1 0 1
Tumoral calcinosis, hyperphosphatemic, familial, 3 0 1 1
Tyrosinemia type I 1 0 1
Tyrosinemia type III 0 1 1
UNC13A-related disorder 0 1 1
USH2A-related disorder 1 0 1
Ullrich congenital muscular dystrophy 1B 1 0 1
Ulnar-mammary syndrome 0 1 1
Undefined NRXN1-related disorders 1 0 1
Urofacial syndrome type 1 1 0 1
VACTERL association, X-linked, with or without hydrocephalus 0 1 1
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 1 0 1
Visceral myopathy 2 0 1 1
Vissers-Bodmer syndrome 0 1 1
Vitelliform macular dystrophy 2 1 0 1
Warsaw breakage syndrome 1 0 1
Weill-Marchesani 4 syndrome, recessive 0 1 1
Weiss-Kruszka syndrome 1 0 1
X-linked ATRX-related disorders 0 1 1
X-linked BCOR-related disorders 0 1 1
X-linked GATA1-related disorders 1 0 1
X-linked MED12-related disorders 0 1 1
X-linked NHS-related disorders 0 1 1
X-linked PHKA2-related disorders 0 1 1
X-linked STAG2-related disorders 0 1 1
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 0 1 1
X-linked lymphoproliferative disease due to XIAP deficiency 1 0 1
X-linked severe combined immunodeficiency 1 0 1
Xeroderma pigmentosum, group G 0 1 1
Zaki syndrome 0 1 1
autosomal recessive B3GALT6-related disorders 0 1 1
autosomal recessive NMNAT1-related disorders. 1 0 1
autosomal recessive SMPD1-related disorders 1 0 1
von Willebrand disease type 2N 1 0 1
von Willebrand disease type 3 0 1 1

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