ClinVar Miner

Variants from Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Location: India  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 association total
84 345 370 0 0 1 800

Gene and significance breakdown #

Total genes and gene combinations: 602
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance association total
DMD 4 9 1 0 14
TTN 0 7 2 0 9
FKRP 0 0 6 0 6
GNE 0 3 3 0 6
SCN1A 2 2 1 0 5
ATP7B 0 3 1 0 4
COL6A2 2 2 0 0 4
DYSF 3 1 0 0 4
LOC102724058, SCN1A 1 3 0 0 4
PKD1 2 1 1 0 4
ABCC8 1 1 1 0 3
CACNA1G 0 0 3 0 3
CFTR 0 2 1 0 3
CLN6 0 3 0 0 3
COL7A1 0 3 0 0 3
FGFR1 0 0 3 0 3
FHOD3 0 0 3 0 3
HPS1 1 1 1 0 3
KCNJ11 0 2 1 0 3
KCNN2 0 0 3 0 3
LRBA 0 1 2 0 3
MYBPC3 0 1 2 0 3
OCA2 0 1 2 0 3
PDHA1 0 1 2 0 3
PIGN 0 2 1 0 3
PKHD1 0 0 3 0 3
RYR2 0 0 3 0 3
SAMD9 0 1 2 0 3
SCN2A 1 1 1 0 3
SETX 1 2 0 0 3
SH3TC2 0 1 2 0 3
SLC19A3 0 2 1 0 3
TRPM6 2 1 0 0 3
TUBB4A 0 0 3 0 3
TYK2 0 1 2 0 3
WFS1 0 1 2 0 3
AAAS 0 2 0 0 2
ABCC2 0 1 1 0 2
ALDH3A2 1 0 1 0 2
ANK1 0 1 1 0 2
AP5Z1 0 0 2 0 2
ASAH1 0 2 0 0 2
ATP13A2 0 1 1 0 2
ATP8B1 0 0 2 0 2
AVIL 0 0 2 0 2
BCKDHB 0 1 1 0 2
CACNA1A 0 0 2 0 2
CAPN3 0 1 1 0 2
CDH1 0 0 2 0 2
CEL 0 1 1 0 2
CFAP74 0 2 0 0 2
CHD7 0 1 1 0 2
CIAO1 0 0 2 0 2
CLCN1 0 2 0 0 2
COX15 0 1 1 0 2
CPS1 0 1 1 0 2
CTSK 0 1 1 0 2
CYP11A1 0 1 1 0 2
CYP11B1, LOC106799833 0 0 2 0 2
CYP27B1 1 0 1 0 2
DEPDC5 0 0 2 0 2
DNAH7 0 2 0 0 2
DOCK7 0 0 2 0 2
DOCK8 0 0 2 0 2
EDNRB 0 0 2 0 2
EPRS1 0 0 2 0 2
ERCC6 1 1 0 0 2
EXT1 2 0 0 0 2
F13A1 0 2 0 0 2
F7 1 1 0 0 2
FDFT1 0 1 1 0 2
FERMT1 1 1 0 0 2
FGD4 0 1 1 0 2
FPGT-TNNI3K, TNNI3K 0 1 1 0 2
GABBR2 0 1 1 0 2
GALK1, ITGB4 0 1 1 0 2
GFM1 0 0 2 0 2
GHR 0 0 2 0 2
GPT2 0 1 1 0 2
GUCY2C 0 2 0 0 2
HPS4 0 2 0 0 2
HSD17B4 0 0 2 0 2
HYDIN 0 2 0 0 2
IQSEC2 0 1 1 0 2
IRF2BPL 0 2 0 0 2
LAMA2 1 1 0 0 2
LDB3 0 0 2 0 2
LMAN1 1 0 1 0 2
LOC126861897, MHRT, MYH7 0 0 2 0 2
MACF1 0 0 2 0 2
MECP2 0 2 0 0 2
MFN2 0 0 2 0 2
MFSD8 1 1 0 0 2
MT-ND5 0 0 2 0 2
MYH7B 0 1 1 0 2
MYO15A 1 0 1 0 2
NAGLU 0 0 2 0 2
NBEA 0 1 1 0 2
NCR1, NLRP7 0 1 1 0 2
NEB, RIF1 0 1 1 0 2
NF1 1 1 0 0 2
NHLRC1 0 2 0 0 2
NOTCH2 0 1 1 0 2
OGDHL 0 0 2 0 2
OPA1 0 2 0 0 2
PCYT2 0 0 2 0 2
PKLR 0 1 1 0 2
PLAA 0 1 1 0 2
PLEC 0 2 0 0 2
PLEKHG2 0 0 2 0 2
POLR1A 0 0 2 0 2
RP9 0 1 1 0 2
RPGR 0 2 0 0 2
RYR1 0 0 2 0 2
SARS1 0 1 1 0 2
SGCA 0 0 2 0 2
SGCG 1 1 0 0 2
SLC16A2 1 1 0 0 2
SLC2A1 1 1 0 0 2
SLC2A9 0 1 1 0 2
SNHG14, UBE3A 0 2 0 0 2
SPTBN2 0 1 1 0 2
SPTBN4 0 0 2 0 2
SRD5A2 2 0 0 0 2
STK36 0 0 2 0 2
SYNE2 0 2 0 0 2
SZT2 0 0 2 0 2
TCIRG1 1 1 0 0 2
TP53 0 2 0 0 2
TRRAP 0 0 2 0 2
TSC2 0 2 0 0 2
TUBA1A 0 0 2 0 2
ABCA12, SNHG31 0 0 1 0 1
ABCA4 0 1 0 0 1
ABCB11 0 0 1 0 1
ABCD1 1 0 0 0 1
ABL1 0 0 1 0 1
ACE 0 0 1 0 1
ACOX1 1 0 0 0 1
ACTL6B 0 1 0 0 1
ACTN2 1 0 0 0 1
ADAMTS9 0 0 1 0 1
ADGRG1 0 0 1 0 1
ADGRV1 0 0 1 0 1
ADPRS 0 1 0 0 1
ADSL 0 1 0 0 1
AFG2B 0 0 1 0 1
AFG3L2 0 1 0 0 1
AGL 0 1 0 0 1
AGTPBP1 0 1 0 0 1
AHI1 0 0 1 0 1
ALG13 0 0 1 0 1
ALMS1 0 1 0 0 1
ALOX12B 0 0 1 0 1
ALOXE3, LOC126862485 0 0 1 0 1
ALPL 0 0 1 0 1
ALS2 0 1 0 0 1
AMH 0 0 1 0 1
AMN 0 1 0 0 1
AMPD2 0 1 0 0 1
ANK3 0 0 1 0 1
ANO3 0 0 1 0 1
ANTXR1 0 0 1 0 1
ARFGEF1 0 1 0 0 1
ARHGEF10 0 0 1 0 1
ARID1B 0 1 0 0 1
ARSA 0 1 0 0 1
ARSG 0 1 0 0 1
ARSL 0 1 0 0 1
ARX, LOC109610631 0 0 1 0 1
ASNS, CZ1P-ASNS 0 0 1 0 1
ASPH 1 0 0 0 1
ASS1 0 1 0 0 1
ASXL1 0 0 1 0 1
ASXL3 0 1 0 0 1
ATM 0 1 0 0 1
ATP1A2 0 1 0 0 1
ATP1A3 0 0 1 0 1
ATP6V0A4 1 0 0 0 1
ATP6V1A 0 0 1 0 1
AUTS2 0 1 0 0 1
B3GALT6 0 0 1 0 1
BBS2 0 0 1 0 1
BBS9 0 1 0 0 1
BEST1 0 0 1 0 1
BMP15 0 1 0 0 1
BMP6 0 0 1 0 1
BSCL2, HNRNPUL2-BSCL2 0 0 1 0 1
C14orf39, SIX6 0 1 0 0 1
C17orf107, CHRNE 0 0 1 0 1
C2orf69 0 0 1 0 1
CA1 0 0 1 0 1
CACNA1H 0 0 1 0 1
CACNB2 0 1 0 0 1
CAD 0 0 1 0 1
CAPN1 1 0 0 0 1
CAPN10 0 1 0 0 1
CASD1, SGCE 1 0 0 0 1
CASK 0 1 0 0 1
CASQ1 0 1 0 0 1
CATIP, PNKD 0 0 1 0 1
CDK10 1 0 0 0 1
CDK8 0 0 1 0 1
CDKL5 0 1 0 0 1
CELF2 0 0 1 0 1
CENPF 0 0 1 0 1
CEP290 0 0 1 0 1
CFAP96, UFSP2 0 1 0 0 1
CFH 0 1 0 0 1
CFTR, LOC111674472 1 0 0 0 1
CHD4 0 1 0 0 1
CHFR 0 1 0 0 1
CHKB, CHKB-CPT1B 0 0 1 0 1
CHRNA1 0 0 1 0 1
CHRNA4 0 1 0 0 1
CHRNB2 0 0 1 0 1
CLCN7 0 1 0 0 1
CLDN10 0 0 1 0 1
CLEC7A 0 0 1 0 1
CNGB1 0 0 1 0 1
CNGB3 0 0 1 0 1
CNOT1 0 1 0 0 1
CNTN6 0 1 0 0 1
CNTNAP1 0 1 0 0 1
COL11A1 0 1 0 0 1
COL18A1 0 0 1 0 1
COL1A1 0 1 0 0 1
COL25A1 0 1 0 0 1
COL27A1 0 1 0 0 1
COL4A4 0 1 0 0 1
COL6A1 0 1 0 0 1
COL6A3, LOC122889011 1 0 0 0 1
CORIN 0 1 0 0 1
CPE 0 1 0 0 1
CPT1C 0 1 0 0 1
CPT2 0 0 1 0 1
CR1 0 0 1 0 1
CREBBP 0 0 1 0 1
CSF1R 1 0 0 0 1
CTCF 0 1 0 0 1
CTNNA3 0 1 0 0 1
CTNS 0 1 0 0 1
CUBN 0 1 0 0 1
CUL7 0 1 0 0 1
CYP11B1 0 0 1 0 1
CYP21A2, LOC106780800 0 1 0 0 1
CYP27A1 0 1 0 0 1
DARS2 0 0 1 0 1
DBT 0 1 0 0 1
DEAF1 0 1 0 0 1
DES 0 0 1 0 1
DGKE 0 1 0 0 1
DHODH 0 0 1 0 1
DHX37 0 0 1 0 1
DISP1 0 1 0 0 1
DKC1 0 1 0 0 1
DLL4 0 1 0 0 1
DNAH11 0 0 1 0 1
DNAH14 0 1 0 0 1
DNAJB6 0 1 0 0 1
DNAJC30 0 0 1 0 1
DNAJC6 0 1 0 0 1
DNM1L 0 0 1 0 1
DNM2 0 0 1 0 1
DOK7 1 0 0 0 1
DPH2 0 0 1 0 1
DPH2, LOC126805726 0 1 0 0 1
DRP2 0 0 1 0 1
DSC2 0 1 0 0 1
ECEL1 0 1 0 0 1
EDA 0 1 0 0 1
EDEM3 0 1 0 0 1
EFHC1 0 0 1 0 1
EFNB1 1 0 0 0 1
EGR2 0 1 0 0 1
EIF2B3 0 1 0 0 1
EPCAM 0 0 1 0 1
ERCC2 0 1 0 0 1
ERMARD 0 1 0 0 1
EYA1 0 1 0 0 1
FA2H 0 1 0 0 1
FAM20A, PRKAR1A 0 1 0 0 1
FBLN5 1 0 0 0 1
FBN1 1 0 0 0 1
FGD1 0 1 0 0 1
FGF13 0 0 1 0 1
FGFR3 0 0 1 0 1
FH 0 1 0 0 1
FIG4 0 1 0 0 1
FLCN 0 0 1 0 1
FLNA 0 0 1 0 1
FLNB 0 0 1 0 1
FLNC 0 1 0 0 1
FLVCR1 0 1 0 0 1
FOXG1 1 0 0 0 1
FUZ 0 0 0 1 1
FXN 0 1 0 0 1
GABRA1 0 0 1 0 1
GABRB2 0 0 1 0 1
GAN 0 0 1 0 1
GANAB 0 1 0 0 1
GBA1, LOC106627981 0 0 1 0 1
GBA2 0 1 0 0 1
GCDH 0 0 1 0 1
GEMIN5 0 1 0 0 1
GFPT1 0 1 0 0 1
GJB1 0 1 0 0 1
GJC2 0 0 1 0 1
GLA, RPL36A-HNRNPH2 0 1 0 0 1
GLUD1 0 1 0 0 1
GNAS 0 1 0 0 1
GORAB 0 1 0 0 1
GRIA4 0 0 1 0 1
GRM1 0 0 1 0 1
GUCA1A, GUCA1ANB-GUCA1A 0 0 1 0 1
GUSB 0 1 0 0 1
HADH 0 0 1 0 1
HADHB 0 0 1 0 1
HBA-LCR, NPRL3 0 1 0 0 1
HCFC1 0 0 1 0 1
HGF 0 0 1 0 1
HGSNAT 0 1 0 0 1
HK1 0 1 0 0 1
HMCN1 0 0 1 0 1
HMMR 0 0 1 0 1
HNF1A 0 1 0 0 1
HNF1B 0 0 1 0 1
HOXD13 0 0 1 0 1
HPDL 0 0 1 0 1
HSD3B2 0 0 1 0 1
HSPG2 0 1 0 0 1
HTRA1 0 1 0 0 1
IDH3A 0 0 1 0 1
IDUA 0 1 0 0 1
IFIH1 0 0 1 0 1
IFT88 0 0 1 0 1
IGF2R 0 0 1 0 1
IGF2R, LOC129997612 0 0 1 0 1
IGFALS 0 0 1 0 1
IHH 0 0 1 0 1
IRF2BPL, LOC107984638 0 1 0 0 1
IRF6 1 0 0 0 1
IRS2 0 0 1 0 1
ITGA2B 0 1 0 0 1
ITGB3 0 0 1 0 1
ITGB4 0 0 1 0 1
ITPR1 0 0 1 0 1
JAG1 1 0 0 0 1
KARS1 0 0 1 0 1
KARS1, LOC126862402 0 0 1 0 1
KCNC2 0 0 1 0 1
KCNJ1 0 1 0 0 1
KCNJ10 0 1 0 0 1
KCNQ2 0 0 1 0 1
KCNQ3 0 0 1 0 1
KCNT2 0 0 1 0 1
KDM5C 0 0 1 0 1
KIF1B 0 0 1 0 1
KIF1C 0 1 0 0 1
KIF5B 0 0 1 0 1
KLF11 0 0 1 0 1
KMT2C 0 0 1 0 1
KRT2 0 1 0 0 1
LAMA1 1 0 0 0 1
LAMA3 1 0 0 0 1
LAMA5 0 0 1 0 1
LDLR 0 1 0 0 1
LHX3 0 0 1 0 1
LIG1 0 0 1 0 1
LIPT1, MITD1 0 0 1 0 1
LMNA 0 1 0 0 1
LMNA, LOC129931597 0 0 1 0 1
LNPK 0 0 1 0 1
LOC100507346, PTCH1 0 1 0 0 1
LOC107648851, TAP2 0 0 1 0 1
LOC110121499, PISD 0 1 0 0 1
LOC126805704, SNIP1 0 1 0 0 1
LOC126806798, ZNF148 0 1 0 0 1
LOC129995449, SQSTM1 0 0 1 0 1
LOC130004109, VCL 0 0 1 0 1
LOC130055387, NRL 0 1 0 0 1
LOC130061900, SGSH 1 0 0 0 1
LPAR6, RB1 1 0 0 0 1
LPL 0 1 0 0 1
LRAT 0 0 1 0 1
LRP5 0 0 1 0 1
LTBP4 0 0 1 0 1
LYST 1 0 0 0 1
LZTR1 0 0 1 0 1
MADD 0 0 1 0 1
MAGEL2 0 1 0 0 1
MAP3K1 0 0 1 0 1
MAP3K7 0 1 0 0 1
MAST3 0 0 1 0 1
MATN3 0 0 1 0 1
MC1R 1 0 0 0 1
MC2R 1 0 0 0 1
MCM8 0 1 0 0 1
MECR 0 0 1 0 1
MED13 0 0 1 0 1
MED13L 0 1 0 0 1
MEGF10 0 0 1 0 1
MERTK 0 0 1 0 1
MIP 0 0 1 0 1
MKKS 0 0 1 0 1
MLC1 1 0 0 0 1
MLH1 1 0 0 0 1
MOCOS 0 0 1 0 1
MOCS1 0 1 0 0 1
MORC2 0 1 0 0 1
MPZ 0 0 1 0 1
MSL3 0 1 0 0 1
MT-ATP6 0 0 1 0 1
MT-CYB 0 0 1 0 1
MT-ND6 0 0 1 0 1
MT-TL1 0 0 1 0 1
MT-TS2 0 0 1 0 1
MUSK 0 1 0 0 1
MVP-DT, PRRT2 0 1 0 0 1
MYH2, MYHAS 0 0 1 0 1
MYH6 0 0 1 0 1
MYH7 0 1 0 0 1
MYMK 0 0 1 0 1
MYOC 0 1 0 0 1
MYORG 0 1 0 0 1
NALCN 0 1 0 0 1
NAXD 0 1 0 0 1
NDNF 0 0 1 0 1
NDUFB3 0 0 1 0 1
NDUFS1 0 1 0 0 1
NEK10 0 1 0 0 1
NF2 1 0 0 0 1
NGF 0 0 1 0 1
NIPBL 0 1 0 0 1
NKX2-1, SFTA3 0 1 0 0 1
NLRP1 0 0 1 0 1
NNT 0 1 0 0 1
NOBOX 0 0 1 0 1
NOTCH3 0 1 0 0 1
NPR3 0 1 0 0 1
NR2E3 0 0 1 0 1
NR5A1 0 1 0 0 1
NRIP1 0 1 0 0 1
NSD2 0 0 1 0 1
NTRK1 0 0 1 0 1
NTRK2 0 0 1 0 1
NUP155 0 0 1 0 1
OCRL 0 1 0 0 1
ODC1 0 1 0 0 1
OFD1, TRAPPC2 1 0 0 0 1
OPHN1 0 1 0 0 1
OTOF 1 0 0 0 1
P3H1 1 0 0 0 1
PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4 0 1 0 0 1
PCK1 0 1 0 0 1
PDE10A 0 1 0 0 1
PDE1C 0 1 0 0 1
PEX2 0 1 0 0 1
PHKA1 0 0 1 0 1
PHKA2 0 0 1 0 1
PHOX2B 0 1 0 0 1
PIEZO2 0 0 1 0 1
PIGO 0 0 1 0 1
PIK3CA 0 0 1 0 1
PLA2G6 0 1 0 0 1
PLEKHG5 0 1 0 0 1
PNP 0 1 0 0 1
PNPLA1 0 1 0 0 1
PNPT1 0 0 1 0 1
POC1B, POC1B-DUSP6 0 0 1 0 1
POGZ 0 1 0 0 1
POLA1 0 0 1 0 1
POLG 0 0 1 0 1
POLR2F, SOX10 0 0 1 0 1
POMGNT1, TSPAN1 0 1 0 0 1
POMK 0 0 1 0 1
POU3F3 0 1 0 0 1
PPT1 0 0 1 0 1
PRKAR1B 0 1 0 0 1
PROC 0 1 0 0 1
PROKR2 0 0 1 0 1
PROM1 0 1 0 0 1
PSEN2 0 0 1 0 1
PTEN 0 1 0 0 1
PTPN11 0 1 0 0 1
PTPRA, VPS16 0 0 1 0 1
RAB27A 0 1 0 0 1
RAI1 0 1 0 0 1
RARS1 0 1 0 0 1
RIPK4 0 0 1 0 1
RIT1 0 0 1 0 1
RMRP 0 0 1 0 1
RNF213 0 0 1 0 1
RSPH3 0 1 0 0 1
RTN4IP1 0 0 1 0 1
RUBCN 0 1 0 0 1
RUNX2 0 0 1 0 1
SASS6 0 1 0 0 1
SBF2 0 1 0 0 1
SCAF4 0 1 0 0 1
SCN1B 0 1 0 0 1
SCN3A 1 0 0 0 1
SCN5A 0 1 0 0 1
SCN8A 0 0 1 0 1
SELENON 0 0 1 0 1
SENP7 0 1 0 0 1
SEPSECS 0 0 1 0 1
SERPINC1 1 0 0 0 1
SERPINF1 1 0 0 0 1
SERPING1 1 0 0 0 1
SETD5 0 1 0 0 1
SGCB 0 1 0 0 1
SGPL1 1 0 0 0 1
SHQ1 0 1 0 0 1
SKI 0 0 1 0 1
SLC12A6 0 1 0 0 1
SLC17A5 0 0 1 0 1
SLC25A15 0 1 0 0 1
SLC25A46 0 0 1 0 1
SLC30A7 0 0 1 0 1
SLC34A3 0 0 1 0 1
SLC38A8 0 1 0 0 1
SLC3A1 0 0 1 0 1
SLC45A2 0 1 0 0 1
SLC4A11 0 1 0 0 1
SLC52A3 0 1 0 0 1
SLC7A7 0 1 0 0 1
SLC9A9 0 0 1 0 1
SORCS1 0 1 0 0 1
SOS1 0 0 1 0 1
SOX11 0 0 1 0 1
SPATA7 1 0 0 0 1
SPEN 0 0 1 0 1
SPTAN1 0 1 0 0 1
SPTB 0 1 0 0 1
SQSTM1 0 0 1 0 1
SRGAP1 0 0 1 0 1
STAG3 0 1 0 0 1
STAR 0 0 1 0 1
STK11 1 0 0 0 1
STXBP1 0 1 0 0 1
SUPT16H 1 0 0 0 1
SYNJ1 0 1 0 0 1
SYT2 0 1 0 0 1
TANC2 0 0 1 0 1
TBC1D24 0 0 1 0 1
TBCEL-TECTA, TECTA 0 0 1 0 1
TBX1 0 1 0 0 1
TBX18 0 0 1 0 1
TBX3 0 0 1 0 1
TBX6 0 1 0 0 1
TCF20 0 1 0 0 1
TGFBI 0 1 0 0 1
TGM1 0 1 0 0 1
THBD 0 1 0 0 1
TLR2 0 0 1 0 1
TLR5 0 1 0 0 1
TMEM260 0 1 0 0 1
TMEM63A 0 0 1 0 1
TMEM67 1 0 0 0 1
TMPRSS3 0 1 0 0 1
TNFRSF9 0 0 1 0 1
TNNT1 0 1 0 0 1
TNNT2 0 0 1 0 1
TONSL 0 1 0 0 1
TP63 0 0 1 0 1
TPM3 0 0 1 0 1
TRAPPC11 0 0 1 0 1
TRIM37 0 1 0 0 1
TRIP13 0 1 0 0 1
TRMT10C 0 1 0 0 1
TRPC6 0 0 1 0 1
TRPM3 0 0 1 0 1
TSC1 0 0 1 0 1
TSHB 0 0 1 0 1
TSPOAP1 0 0 1 0 1
TTC19 0 1 0 0 1
TUBGCP6 0 0 1 0 1
TWNK 0 0 1 0 1
TYMP 1 0 0 0 1
UMOD 0 0 1 0 1
UNC13D 1 0 0 0 1
UNC80 0 1 0 0 1
UPB1 0 0 1 0 1
UROS 1 0 0 0 1
UVSSA 0 1 0 0 1
VIM 0 0 1 0 1
VPS13A 1 0 0 0 1
WARS2 0 0 1 0 1
WASF1 0 0 1 0 1
WDR26 0 0 1 0 1
WDR37 0 1 0 0 1
WDR45 1 0 0 0 1
WDR62 0 1 0 0 1
WT1 0 1 0 0 1
XPNPEP3 0 1 0 0 1
XRCC1 0 1 0 0 1
YY1 1 0 0 0 1
ZBTB18 0 1 0 0 1
ZNF148 0 0 1 0 1
ZNF462 0 1 0 0 1
ZYG11B 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 629
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance association total
Duchenne muscular dystrophy 2 8 1 0 11
GNE myopathy 0 3 3 0 6
Wilson disease 0 4 2 0 6
Primary dilated cardiomyopathy 0 1 4 0 5
Polycystic kidney disease, adult type 2 1 1 0 4
not provided 0 2 2 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2I 0 0 3 0 3
Becker muscular dystrophy; Duchenne muscular dystrophy 2 1 0 0 3
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 2 1 0 0 3
Biotin-responsive basal ganglia disease 0 2 1 0 3
Combined immunodeficiency due to LRBA deficiency 0 1 2 0 3
Cystic fibrosis 1 1 1 0 3
Deficiency of steroid 11-beta-monooxygenase 0 0 3 0 3
Developmental and epileptic encephalopathy, 11 1 1 1 0 3
Hermansky-Pudlak syndrome 1 1 1 1 0 3
Hyperinsulinemic hypoglycemia, familial, 1 1 1 1 0 3
Hypogonadotropic hypogonadism 2 with or without anosmia 0 0 3 0 3
Hypomyelinating leukodystrophy 6 0 0 3 0 3
Intestinal hypomagnesemia 1 2 1 0 0 3
Leber optic atrophy 0 0 3 0 3
MIRAGE syndrome 0 1 2 0 3
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 3 0 0 0 3
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 2 1 0 3
Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 0 0 3 0 3
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 3 0 0 3
Polycystic kidney disease 4 0 0 3 0 3
Pyruvate dehydrogenase E1-alpha deficiency 0 1 2 0 3
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2 0 1 0 3
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 1 2 0 0 3
Type 2 diabetes mellitus 0 0 3 0 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2 0 0 0 2
Acrofacial dysostosis Cincinnati type 0 0 2 0 2
Aganglionic megacolon 0 0 2 0 2
Allan-Herndon-Dudley syndrome 1 1 0 0 2
Angelman syndrome 0 2 0 0 2
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 2 0 2
Atrial conduction disease 0 1 1 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2C 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2D 0 0 2 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 3 1 0 1 0 2
Autosomal recessive osteopetrosis 1 1 1 0 0 2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 0 1 1 0 2
Ceroid lipofuscinosis, neuronal, 6A; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 0 2 0 0 2
Charcot-Marie-Tooth disease type 2A2; Neuropathy, hereditary motor and sensory, type 6A 0 0 2 0 2
Charcot-Marie-Tooth disease type 4H 0 1 1 0 2
Ciliary dyskinesia, primary, 46 0 0 2 0 2
Ciliary dyskinesia, primary, 49, without situs inversus 0 2 0 0 2
Ciliary dyskinesia, primary, 50 0 2 0 0 2
Combined immunodeficiency due to DOCK8 deficiency 0 0 2 0 2
Cone-rod dystrophy 20 0 0 2 0 2
Congenital diarrhea 6; Meconium ileus 0 2 0 0 2
Congenital factor VII deficiency 1 1 0 0 2
Congenital generalized lipodystrophy type 2 0 1 1 0 2
Congenital hyperammonemia, type I 0 1 1 0 2
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 1 1 0 0 2
Developmental and epileptic encephalopathy, 18 0 0 2 0 2
Developmental and epileptic encephalopathy, 23 0 0 2 0 2
Developmental delay with or without dysmorphic facies and autism 0 0 2 0 2
Developmental regression; Relative macrocephaly; Severe muscular hypotonia 0 0 2 0 2
Dilated cardiomyopathy with left ventricular noncompaction; Hypertrophic cardiomyopathy 0 1 1 0 2
Dubin-Johnson syndrome 0 1 1 0 2
Dystonia 34, myoclonic 0 0 2 0 2
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 2 0 0 2
Encephalopathy due to GLUT1 deficiency 1 1 0 0 2
Epidermolysis bullosa simplex with nail dystrophy 0 2 0 0 2
Epilepsy, familial focal, with variable foci 1 0 0 2 0 2
Factor XIII, A subunit, deficiency of 0 2 0 0 2
Farber lipogranulomatosis 0 2 0 0 2
Focal clonic seizure 0 0 2 0 2
Generalized epilepsy with febrile seizures plus, type 2 0 2 0 0 2
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 1 1 0 2
Glucocorticoid deficiency with achalasia 0 2 0 0 2
Glutamate pyruvate transaminase 2 deficiency 0 1 1 0 2
Hepatocellular carcinoma 0 0 2 0 2
Hereditary motor and sensory neuropathy 0 0 2 0 2
Hereditary spastic paraplegia 48 0 0 2 0 2
Hereditary spherocytosis type 1 0 1 1 0 2
Hermansky-Pudlak syndrome 4 0 2 0 0 2
Hydatidiform mole, recurrent, 1 0 1 1 0 2
Hyperinsulinemic hypoglycemia, familial, 2 0 2 0 0 2
Hypouricemia, renal, 2 0 1 1 0 2
Immunodeficiency; Recurrent skin infections 0 0 2 0 2
Intellectual disability, X-linked 1 0 1 1 0 2
Kindler syndrome 1 1 0 0 2
Kufor-Rakeb syndrome 0 1 1 0 2
Laron-type isolated somatotropin defect 0 0 2 0 2
Leukodystrophy and acquired microcephaly with or without dystonia; 0 0 2 0 2
Leukodystrophy, hypomyelinating, 15 0 0 2 0 2
Lissencephaly 9 with complex brainstem malformation 0 0 2 0 2
Lissencephaly due to TUBA1A mutation 0 0 2 0 2
Maple syrup urine disease type 1B 0 1 1 0 2
Maturity-onset diabetes of the young type 8 0 1 1 0 2
Merosin deficient congenital muscular dystrophy 1 1 0 0 2
Metabolic acidosis; Renal tubular acidosis; Rickets 0 0 2 0 2
Mitochondrial disease 0 0 2 0 2
Mucopolysaccharidosis, MPS-III-B 0 0 2 0 2
Multiple congenital exostosis 2 0 0 0 2
Multiple mitochondrial dysfunctions syndrome 10 0 0 2 0 2
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 0 1 1 0 2
Nephrotic syndrome, type 21 0 0 2 0 2
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 0 2 0 2
Neurodevelopmental disorder with microcephaly, ataxia, and seizures 0 1 1 0 2
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 1 1 0 2
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 1 1 0 2
Neuronal ceroid lipofuscinosis 7 1 1 0 0 2
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form 0 2 0 0 2
Perrault syndrome 1 0 0 2 0 2
Primary ciliary dyskinesia 5 0 2 0 0 2
Pyknodysostosis 0 1 1 0 2
Pyruvate kinase deficiency of red cells 0 1 1 0 2
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Epidermolysis bullosa pruriginosa 0 2 0 0 2
Retinitis pigmentosa 9 0 1 1 0 2
Rod-cone dystrophy 0 0 2 0 2
Severe myoclonic epilepsy in infancy 1 1 0 0 2
Sjögren-Larsson syndrome 1 0 1 0 2
Spastic paraplegia 82, autosomal recessive 0 0 2 0 2
Spinocerebellar ataxia type 42 0 0 2 0 2
Squalene synthase deficiency 0 1 1 0 2
Tyrosinase-positive oculocutaneous albinism 0 1 1 0 2
Ullrich congenital muscular dystrophy 1B 1 1 0 0 2
Vitamin D-dependent rickets, type 1A 1 0 1 0 2
Wolfram syndrome 1 0 1 1 0 2
Yoon-Bellen neurodevelopmental syndrome 0 0 2 0 2
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 0 1 0 0 1
3 beta-Hydroxysteroid dehydrogenase deficiency 0 0 1 0 1
3M syndrome 1 0 1 0 0 1
46,XY sex reversal 11 0 0 1 0 1
46,XY sex reversal 3 0 1 0 0 1
46,XY sex reversal 6 0 0 1 0 1
Aarskog syndrome 0 1 0 0 1
Abnormal finger morphology 0 0 1 0 1
Achromatopsia 3 0 0 1 0 1
Acrocapitofemoral dysplasia 0 0 1 0 1
Acyl-CoA oxidase deficiency 1 0 0 0 1
Adams-Oliver syndrome 6 0 1 0 0 1
Adenylosuccinate lyase deficiency 0 1 0 0 1
Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Colorectal cancer; Bone marrow failure syndrome 5 0 1 0 0 1
Adrenoleukodystrophy 1 0 0 0 1
Adult hypophosphatasia 0 0 1 0 1
Aganglionic megacolon; Hyperphosphatasia with intellectual disability syndrome 2 0 0 1 0 1
Age related macular degeneration 1 0 0 1 0 1
Agenesis of the corpus callosum with peripheral neuropathy 0 1 0 0 1
Al Kaissi syndrome 1 0 0 0 1
Al-Gazali syndrome; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2 0 0 1 0 1
Alagille syndrome due to a JAG1 point mutation 1 0 0 0 1
Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 0 1 0 0 1
Alstrom syndrome 0 1 0 0 1
Alzheimer disease 6 0 1 0 0 1
Amelogenesis imperfecta type 1G 0 1 0 0 1
Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 11 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 13 0 1 0 0 1
Arthrogryposis Multiplex Congenita and Immunodeficiency 0 1 0 0 1
Arthrogryposis multiplex congenita 0 1 0 0 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome; Marden-Walker syndrome 0 0 1 0 1
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 1 0 0 0 1
Ataxia-telangiectasia syndrome 0 1 0 0 1
Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Larsen syndrome 0 0 1 0 1
Atrial fibrillation, familial, 15 0 0 1 0 1
Autism spectrum disorder 0 1 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 1 0 0 1
Autism, susceptibility to, 16 0 0 1 0 1
Autistic behavior 0 0 1 0 1
Autoinflammation with arthritis and dyskeratosis 0 0 1 0 1
Autosomal dominant centronuclear myopathy 0 0 1 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 0 1 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 0 0 1 0 1
Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4 0 1 0 0 1
Autosomal recessive congenital ichthyosis 1 0 1 0 0 1
Autosomal recessive congenital ichthyosis 10 0 1 0 0 1
Autosomal recessive congenital ichthyosis 2 0 0 1 0 1
Autosomal recessive congenital ichthyosis 3 0 0 1 0 1
Autosomal recessive congenital ichthyosis 4B 0 0 1 0 1
Autosomal recessive hypophosphatemic bone disease 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2E 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type R18 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 39 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 8 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 89; Leukoencephalopathy, progressive, infantile-onset, with or without deafness 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 9 1 0 0 0 1
Autosomal recessive spastic paraplegia type 76 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 14 0 0 1 0 1
Autosomal recessive spinocerebellar ataxia 15 0 1 0 0 1
BDV syndrome 0 1 0 0 1
Bardet-Biedl syndrome 2 0 0 1 0 1
Bardet-Biedl syndrome 9 0 1 0 0 1
Bartsocas-Papas syndrome 1 0 0 1 0 1
Bartter disease type 2 0 1 0 0 1
Basal cell nevus syndrome 1 0 1 0 0 1
Basal ganglia calcification, idiopathic, 7, autosomal recessive 0 1 0 0 1
Basilicata-Akhtar syndrome 0 1 0 0 1
Bent bone dysplasia syndrome 2 0 0 1 0 1
Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B 0 1 0 0 1
Bilateral frontoparietal polymicrogyria 0 0 1 0 1
Birt-Hogg-Dube syndrome 0 0 1 0 1
Bleeding disorder, platelet-type, 24; Fetomaternal alloimmune thrombocytopenia 1 0 0 1 0 1
Blepharocheilodontic syndrome 1 0 0 1 0 1
Bohring-Opitz syndrome 0 0 1 0 1
Boudin-Mortier syndrome 0 1 0 0 1
Brain-lung-thyroid syndrome 0 1 0 0 1
Branchiootic syndrome 1 0 1 0 0 1
Brown-Vialetto-van Laere syndrome 1 0 1 0 0 1
Brugada syndrome 1 0 1 0 0 1
Brugada syndrome 4 0 1 0 0 1
Brugada syndrome 5; Atrial fibrillation, familial, 13 0 1 0 0 1
CARASIL syndrome 0 1 0 0 1
CHARGE syndrome 0 1 0 0 1
CTCF-related neurodevelopmental disorder 0 1 0 0 1
Camptodactyly-tall stature-scoliosis-hearing loss syndrome 0 0 1 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 0 0 1
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 0 0 1 0 1
Cardiomyopathy, familial hypertrophic, 28 0 0 1 0 1
Cardiomyopathy, familial hypertrophic, 30, atrial 0 1 0 0 1
Cardiospondylocarpofacial syndrome; Frontometaphyseal dysplasia 2 0 1 0 0 1
Carey-Fineman-Ziter syndrome 1 0 0 1 0 1
Cataract 30 0 0 1 0 1
Central core myopathy 0 0 1 0 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1 0 0 1 0 1
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 0 1 0 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 0 1 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 1 0 0 1
Ceroid lipofuscinosis, neuronal, 6A 0 1 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 1 0 0 1
Charcot-Marie-Tooth disease type 2A1 0 0 1 0 1
Charcot-Marie-Tooth disease type 4B2 0 1 0 0 1
Charcot-Marie-Tooth disease type 4C 0 1 0 0 1
Charcot-Marie-Tooth disease type 4G 0 1 0 0 1
Charcot-Marie-Tooth disease type X 0 0 1 0 1
Cholestanol storage disease 0 1 0 0 1
Chédiak-Higashi syndrome 1 0 0 0 1
Ciliary dyskinesia, primary, 44 0 1 0 0 1
Citrullinemia type I 0 1 0 0 1
Cleidocranial dysostosis 0 0 1 0 1
Coffin-Siris syndrome 1 0 1 0 0 1
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 0 1 0 0 1
Combined oxidative phosphorylation defect type 13; Autosomal recessive nonsyndromic hearing loss 70 0 0 1 0 1
Combined oxidative phosphorylation defect type 30 0 1 0 0 1
Combined oxidative phosphorylation deficiency 53 0 0 1 0 1
Cone dystrophy 3 0 0 1 0 1
Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 0 1 0 0 1
Congenital anomalies of kidney and urinary tract 3 0 1 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 0 0 1
Congenital diarrhea 5 with tufting enteropathy 0 0 1 0 1
Congenital disorder of glycosylation, type 2v 0 1 0 0 1
Congenital heart defects and skeletal malformations syndrome 0 0 1 0 1
Congenital hereditary endothelial dystrophy of cornea 0 1 0 0 1
Congenital lipoid adrenal hyperplasia due to STAR deficency 0 0 1 0 1
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 0 1 0 1
Congenital myasthenic syndrome 10 1 0 0 0 1
Congenital myasthenic syndrome 12 0 1 0 0 1
Congenital myasthenic syndrome 4A 0 0 1 0 1
Congenital myasthenic syndrome 9 0 1 0 0 1
Congenital myopathy 4A, autosomal dominant 0 0 1 0 1
Congenital myotonia, autosomal dominant form 0 1 0 0 1
Congenital myotonia, autosomal recessive form 0 1 0 0 1
Congenital sensory neuropathy with selective loss of small myelinated fibers 0 0 1 0 1
Cornelia de Lange syndrome 1 0 1 0 0 1
Cowden syndrome 1 0 1 0 0 1
Craniofacial microsomia 1 0 1 0 0 1
Craniofrontonasal syndrome 1 0 0 0 1
Cutaneous porphyria 1 0 0 0 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 0 1 0 1
Cutis laxa, autosomal recessive, type 1A 1 0 0 0 1
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 0 1 0 0 1
Cystinuria 0 0 1 0 1
Deeah syndrome; Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 0 1 0 1
Deficiency of 3-hydroxyacyl-CoA dehydrogenase; Hyperinsulinemic hypoglycemia, familial, 4 0 0 1 0 1
Deficiency of beta-ureidopropionase 0 0 1 0 1
Dejerine-Sottas disease 0 1 0 0 1
Developmental and epileptic encephalopathy 103 0 0 1 0 1
Developmental and epileptic encephalopathy 106 0 1 0 0 1
Developmental and epileptic encephalopathy 108 0 0 1 0 1
Developmental and epileptic encephalopathy 6B 0 1 0 0 1
Developmental and epileptic encephalopathy 92 0 0 1 0 1
Developmental and epileptic encephalopathy 93 0 0 1 0 1
Developmental and epileptic encephalopathy 97 0 0 1 0 1
Developmental and epileptic encephalopathy 98 0 1 0 0 1
Developmental and epileptic encephalopathy, 1 0 0 1 0 1
Developmental and epileptic encephalopathy, 19 0 0 1 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 0 1
Developmental and epileptic encephalopathy, 36 0 0 1 0 1
Developmental and epileptic encephalopathy, 4 0 1 0 0 1
Developmental and epileptic encephalopathy, 42 0 0 1 0 1
Developmental and epileptic encephalopathy, 53 0 1 0 0 1
Developmental and epileptic encephalopathy, 57 0 0 1 0 1
Developmental and epileptic encephalopathy, 58 0 0 1 0 1
Developmental and epileptic encephalopathy, 59 0 0 1 0 1
Developmental and epileptic encephalopathy, 62; Epilepsy, familial focal, with variable foci 4 1 0 0 0 1
Developmental and epileptic encephalopathy, 90 0 0 1 0 1
Developmental cataract; Nystagmus; Microphthalmia; Microcornea 0 0 1 0 1
Developmental cataract; Seizure; Developmental regression; Death in childhood 0 0 1 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 1 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 1 0 0 1
DiGeorge syndrome 0 1 0 0 1
Diabetes mellitus, noninsulin-dependent, 1 0 1 0 0 1
Diaphyseal dysplasia; Brachycephaly; Osteopenia; Diaphyseal sclerosis; Elevated circulating alkaline phosphatase concentration; Hypoplastic acetabulae; Decreased circulating vitamin D concentration 0 0 1 0 1
Diarrhea; Congenital nystagmus; Febrile seizure (within the age range of 3 months to 6 years); Oculocutaneous albinism; Respiratory tract infection; Motor delay, mild 0 0 1 0 1
Dilated cardiomyopathy 1AA 1 0 0 0 1
Dilated cardiomyopathy 1C 0 0 1 0 1
Dilated cardiomyopathy 1D 0 0 1 0 1
Dilated cardiomyopathy 1EE 0 0 1 0 1
Dilated cardiomyopathy 1G 0 0 1 0 1
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 0 1 0 0 1
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9 0 1 0 0 1
Dilated cardiomyopathy 1G; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9 0 1 0 0 1
Dilated cardiomyopathy 1I 0 0 1 0 1
Dilated cardiomyopathy 1S 0 0 1 0 1
Dilated cardiomyopathy 1V 0 0 1 0 1
Dilated cardiomyopathy 1W 0 0 1 0 1
Distal arthrogryposis type 5D 0 1 0 0 1
Dyskeratosis congenita, X-linked 0 1 0 0 1
Dystonia 24 0 0 1 0 1
Dystonia 30 0 0 1 0 1
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; Optic atrophy 16 0 0 1 0 1
EAST syndrome 0 1 0 0 1
Early-onset myopathy with fatal cardiomyopathy 0 1 0 0 1
Eichsfeld type congenital muscular dystrophy 0 0 1 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 1 0 0 1
Enhanced S-cone syndrome; Retinitis pigmentosa 37 0 0 1 0 1
Epidermolysis bullosa, junctional 5A, intermediate 0 1 0 0 1
Epilepsy, childhood absence, susceptibility to, 6 0 0 1 0 1
Epilepsy, familial focal, with variable foci 3 0 1 0 0 1
Epilepsy; Intellectual disability; Congenital anomaly of face 0 0 1 0 1
Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis 0 1 0 0 1
FOXG1 disorder 1 0 0 0 1
Fabry disease 0 1 0 0 1
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 1 0 0 0 1
Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 1 0 0 1
Factor V and factor VIII, combined deficiency of, type 1 1 0 0 0 1
Factor V deficiency; Hereditary factor VIII deficiency disease; Factor V and factor VIII, combined deficiency of, type 1 0 0 1 0 1
Failure to thrive; Abnormality of the skeletal system; Penile hypospadias; Micropenis; Severe global developmental delay 0 1 0 0 1
Familial cancer of breast 0 0 1 0 1
Familial cancer of breast; Blepharocheilodontic syndrome 1; Hereditary diffuse gastric adenocarcinoma; Prostate cancer 0 0 1 0 1
Familial chronic mucocutaneous candidiasis; Aspergillosis, susceptibility to 0 0 1 0 1
Familial hemophagocytic lymphohistiocytosis 3 1 0 0 0 1
Familial juvenile hyperuricemic nephropathy type 1 0 0 1 0 1
Febrile seizures, familial, 4 0 0 1 0 1
Fliedner-Zweier syndrome 0 1 0 0 1
Focal segmental glomerulosclerosis 2 0 0 1 0 1
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 1 0 0 1
Friedreich ataxia 1 0 1 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 0 1 0 1
GAPO syndrome 0 0 1 0 1
Gabriele de Vries syndrome 1 0 0 0 1
Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease perinatal lethal; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 0 0 1 0 1
Geroderma osteodysplastica 0 1 0 0 1
Giant axonal neuropathy 1 0 0 1 0 1
Glanzmann thrombasthenia 1 0 1 0 0 1
Glaucoma 1, open angle, A 0 1 0 0 1
Global developmental delay; Cerebellar atrophy; Kleefstra syndrome 2 0 0 1 0 1
Global developmental delay; Macrocephaly; Intellectual disability 0 0 1 0 1
Glucocorticoid deficiency 1 1 0 0 0 1
Glucocorticoid deficiency 4 0 1 0 0 1
Glutaric aciduria, type 1 0 0 1 0 1
Glycogen storage disease IXa1 0 0 1 0 1
Glycogen storage disease IXd 0 0 1 0 1
Glycogen storage disease type III 0 1 0 0 1
Griscelli syndrome type 2 0 1 0 0 1
Hajdu-Cheney syndrome 0 0 1 0 1
Hearing loss, autosomal dominant 74 0 1 0 0 1
Hematuria, benign familial, 1 0 1 0 0 1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 0 0 1 0 1
Hereditary angioedema type 1 1 0 0 0 1
Hereditary antithrombin deficiency 1 0 0 0 1
Hereditary diffuse leukoencephalopathy with spheroids 1 0 0 0 1
Hereditary insensitivity to pain with anhidrosis 0 0 1 0 1
Hereditary leiomyomatosis and renal cell cancer 0 1 0 0 1
Hereditary pancreatitis 0 1 0 0 1
Hereditary spastic paraplegia 35 0 1 0 0 1
Hereditary spastic paraplegia 46 0 1 0 0 1
Hereditary spastic paraplegia 73 0 1 0 0 1
Hereditary spherocytosis type 2 0 1 0 0 1
Holoprosencephaly 10 0 1 0 0 1
Holoprosencephaly 12 with or without pancreatic agenesis; Vissers-Bodmer syndrome 0 1 0 0 1
Hypercholesterolemia, familial, 1 0 1 0 0 1
Hyperinsulinism-hyperammonemia syndrome 0 1 0 0 1
Hyperlipoproteinemia, type I 0 1 0 0 1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 0 1 0 0 1
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 0 1 0 0 1
Hypertrophic cardiomyopathy 4 0 1 0 0 1
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 0 0 1 0 1
Hypertrophic cardiomyopathy 9 0 0 1 0 1
Hypogonadotropic hypogonadism 25 with anosmia 0 0 1 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 1 0 1
Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 1 0 1
Hypohidrotic X-linked ectodermal dysplasia 0 1 0 0 1
Hypokalemia; Hypomagnesemia; Lower limb muscle weakness 0 0 1 0 1
Hypomyelinating leukodystrophy 2; Hereditary spastic paraplegia 44 0 0 1 0 1
Hypomyelinating leukodystrophy 9 0 1 0 0 1
Hypothyroidism; Anxiety; Polyarticular arthritis 0 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 1 0 0 1
Hypotrichosis 8 1 0 0 0 1
Ichthyosis bullosa of Siemens 0 1 0 0 1
Imerslund-Grasbeck syndrome type 1 0 1 0 0 1
Imerslund-Grasbeck syndrome type 2 0 1 0 0 1
Immunodeficiency 109 with lymphoproliferation 0 0 1 0 1
Immunodeficiency 35 0 1 0 0 1
Immunodeficiency 96 0 0 1 0 1
Immunoglobulin-mediated membranoproliferative glomerulonephritis 0 1 0 0 1
Infantile neuroaxonal dystrophy 0 1 0 0 1
Infantile onset spinocerebellar ataxia; Perrault syndrome 5 0 0 1 0 1
Infantile-onset ascending hereditary spastic paralysis 0 1 0 0 1
Infantile-onset generalized dyskinesia with orofacial involvement 0 1 0 0 1
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 0 1 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 0 1 0 1
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 0 1 0 1
Intellectual disability, autosomal dominant 22 0 1 0 0 1
Intellectual disability, autosomal dominant 24 0 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 1 0 0 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 1 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 0 0 1
Intellectual disability; Cerebellar atrophy; Juvenile-onset progressive generalized dystonia 0 0 1 0 1
Iron overload, susceptibility to 0 0 1 0 1
Isolated thyroid-stimulating hormone deficiency 0 0 1 0 1
Joubert syndrome 3 0 0 1 0 1
Joubert syndrome 5 0 0 1 0 1
Junctional epidermolysis bullosa with pyloric atresia 0 0 1 0 1
Junctional epidermolysis bullosa with pyloric atresia; Junctional epidermolysis bullosa, non-Herlitz type 0 0 1 0 1
Juvenile onset Parkinson disease 19A 0 1 0 0 1
KIF5B-related skeletal dysplasia 0 0 1 0 1
Knobloch syndrome 0 0 1 0 1
Lafora disease 0 1 0 0 1
Laryngo-onycho-cutaneous syndrome; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe 1 0 0 0 1
Lattice corneal dystrophy Type I 0 1 0 0 1
Leber congenital amaurosis 3 1 0 0 0 1
Leber-like hereditary optic neuropathy, autosomal recessive 1 0 0 1 0 1
Left ventricular noncompaction 10 0 0 1 0 1
Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1 0 1 0 0 1
Lethal congenital contracture syndrome 7; Neuropathy, congenital hypomyelinating, 3 0 1 0 0 1
Lethal multiple pterygium syndrome; Myasthenic syndrome, congenital, 1B, fast-channel; Congenital myasthenic syndrome 1A 0 0 1 0 1
Leukodystrophy, hypomyelinating, 19, transient infantile 0 0 1 0 1
Leukodystrophy; Autosomal recessive nonsyndromic hearing loss 89; Global developmental delay 0 0 1 0 1
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 0 0 1 0 1
Li-Fraumeni syndrome 1 0 1 0 0 1
Liberfarb syndrome 0 1 0 0 1
Lipoyl transferase 1 deficiency 0 0 1 0 1
Lowe syndrome 0 1 0 0 1
Lysinuric protein intolerance 0 1 0 0 1
MEGF10-related myopathy 0 0 1 0 1
MELAS syndrome; Leigh syndrome, mitochondrial 0 0 1 0 1
MHC class I deficiency 0 0 1 0 1
Maple syrup urine disease 0 1 0 0 1
Marbach-Schaaf neurodevelopmental syndrome 0 1 0 0 1
Marfan syndrome; Progeroid and marfanoid aspect-lipodystrophy syndrome 1 0 0 0 1
Maturity-onset diabetes of the young type 3 0 1 0 0 1
Maturity-onset diabetes of the young type 7 0 0 1 0 1
McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 0 0 1 0 1
Meckel syndrome, type 3 1 0 0 0 1
Megaconial type congenital muscular dystrophy 0 0 1 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 0 0 0 1
Metachromatic leukodystrophy 0 1 0 0 1
Methylmalonic acidemia with homocystinuria, type cblX 0 0 1 0 1
Microcephaly 14, primary, autosomal recessive 0 1 0 0 1
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 1 0 0 1
Microcephaly and chorioretinopathy 1 0 0 1 0 1
Miller syndrome 0 0 1 0 1
Mitochondrial DNA depletion syndrome 1 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 5 0 1 0 0 1
Mitochondrial complex III deficiency nuclear type 2 0 1 0 0 1
Mosaic variegated aneuploidy syndrome 3 0 1 0 0 1
Moyamoya disease 2 0 0 1 0 1
Mucopolysaccharidosis type 7 0 1 0 0 1
Mucopolysaccharidosis, MPS-I-S 0 1 0 0 1
Mucopolysaccharidosis, MPS-III-A 1 0 0 0 1
Mucopolysaccharidosis, MPS-III-C 0 1 0 0 1
Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 1 0 0 0 1
Mulibrey nanism syndrome 0 1 0 0 1
Multiple epiphyseal dysplasia type 5 0 0 1 0 1
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 0 0 1 0 1
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 0 1 0 0 1
Mycobacterium tuberculosis, susceptibility to 0 0 1 0 1
Myoclonic dystonia 11 1 0 0 0 1
Myoclonic epilepsy of Lafora 2 0 1 0 0 1
Myoclonic epilepsy, juvenile, susceptibility to, 1; Epilepsy, juvenile absence, susceptibility to, 1 0 0 1 0 1
Myopathy due to calsequestrin and SERCA1 protein overload 0 1 0 0 1
Myopathy, proximal, and ophthalmoplegia 0 0 1 0 1
Myopathy; Kidney damage; Rhabdomyolysis 0 0 1 0 1
Myopathy; Spinal muscular atrophy 0 0 1 0 1
Myosin storage myopathy 0 0 1 0 1
NAD(P)HX dehydratase deficiency 0 1 0 0 1
Nemaline myopathy 5; Nemaline myopathy 5B, autosomal recessive, childhood-onset 0 1 0 0 1
Nephronophthisis 0 0 1 0 1
Nephronophthisis-like nephropathy 1 0 1 0 0 1
Nephrotic syndrome 14 1 0 0 0 1
Neural tube defect 0 0 0 1 1
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 0 0 1 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 0 1 0 0 1
Neurodegeneration, childhood-onset, with cerebellar atrophy 0 1 0 0 1
Neurodevelopmental disorder 0 1 0 0 1
Neurodevelopmental disorder with absent language and variable seizures 0 0 1 0 1
Neurodevelopmental disorder with alopecia and brain abnormalities 0 1 0 0 1
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 1 0 0 0 1
Neurodevelopmental disorder with dystonia and seizures 0 1 0 0 1
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 0 0 1 0 1
Neurodevelopmental disorder with hearing loss and spasticity 0 0 1 0 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 1 0 1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 0 1 0 1
Neurodevelopmental disorder with poor growth and skeletal anomalies 0 1 0 0 1
Neurodevelopmental disorder with poor language and loss of hand skills; Developmental and epileptic encephalopathy, 59 0 1 0 0 1
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 0 1 0 1
Neurofibromatosis, familial spinal 0 1 0 0 1
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 1 0 0 0 1
Neurofibromatosis, type 2 1 0 0 0 1
Neuronal ceroid lipofuscinosis 1 0 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 11 0 1 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 0 1 0 0 1
Neurooculocardiogenitourinary syndrome 0 1 0 0 1
Neuropathy, hereditary motor and sensory, type 6B 0 0 1 0 1
Non-acquired combined pituitary hormone deficiency with spine abnormalities 0 0 1 0 1
Noonan syndrome 10 0 0 1 0 1
Noonan syndrome 1; LEOPARD syndrome 1 0 1 0 0 1
Noonan syndrome 4 0 0 1 0 1
Noonan syndrome 8 0 0 1 0 1
Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 0 1 0 0 1
Oculocutaneous albinism type 4 0 1 0 0 1
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 0 0 1 0 1
Optic atrophy 12 0 1 0 0 1
Optic atrophy 5 0 0 1 0 1
Osteogenesis imperfecta type 6 1 0 0 0 1
Osteogenesis imperfecta type 8 1 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Osteogenesis imperfecta type I 0 1 0 0 1
Parkinsonism-dystonia 3, childhood-onset 0 0 1 0 1
Paroxysmal nonkinesigenic dyskinesia 1 0 0 1 0 1
Periventricular nodular heterotopia 6 0 1 0 0 1
Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B 0 1 0 0 1
Peutz-Jeghers syndrome 1 0 0 0 1
Phosphoenolpyruvate carboxykinase deficiency, cytosolic 0 1 0 0 1
Polycystic kidney disease 0 0 1 0 1
Polycystic kidney disease 3 with or without polycystic liver disease 0 1 0 0 1
Pontocerebellar hypoplasia type 2D 0 0 1 0 1
Pontocerebellar hypoplasia type 9 0 1 0 0 1
Posterior column ataxia-retinitis pigmentosa syndrome; Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia 0 1 0 0 1
Premature ovarian failure 10 0 1 0 0 1
Premature ovarian failure 5 0 0 1 0 1
Premature ovarian failure 8 0 1 0 0 1
Primary ciliary dyskinesia 32 0 1 0 0 1
Primary ciliary dyskinesia 7 0 0 1 0 1
Primary hyperoxaluria 0 0 1 0 1
Progressive familial intrahepatic cholestasis type 1; Benign recurrent intrahepatic cholestasis type 1 0 0 1 0 1
Progressive familial intrahepatic cholestasis type 1; Intrahepatic cholestasis with episodic jaundice 0 0 1 0 1
Progressive familial intrahepatic cholestasis type 2 0 0 1 0 1
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 0 0 1 0 1
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A 0 1 0 0 1
Psychomotor retardation, epilepsy, and craniofacial dysmorphism 0 1 0 0 1
Purine-nucleoside phosphorylase deficiency 0 1 0 0 1
Radio-Tartaglia syndrome 0 0 1 0 1
Rauch-Steindl syndrome 0 0 1 0 1
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa 0 1 0 0 1
Renal cysts and diabetes syndrome 0 0 1 0 1
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 1 0 0 0 1
Renal tubular dysgenesis of genetic origin 0 0 1 0 1
Retinitis pigmentosa 0 0 1 0 1
Retinitis pigmentosa 27 0 1 0 0 1
Retinitis pigmentosa 3 0 1 0 0 1
Retinitis pigmentosa 38 0 0 1 0 1
Retinitis pigmentosa 45 0 0 1 0 1
Retinitis pigmentosa 90 0 0 1 0 1
Retinitis pigmentosa-deafness syndrome 0 0 1 0 1
Rett syndrome 0 1 0 0 1
Roussy-Lévy syndrome; Dejerine-Sottas disease; Neuropathy, congenital hypomyelinating, 2 0 0 1 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 0 0 1 0 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 1 0 0 0 1
Schaaf-Yang syndrome 0 1 0 0 1
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 0 0 1 0 1
Seizures, benign familial neonatal, 2 0 0 1 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 0 0 1
Severe myoclonic epilepsy in infancy; Developmental and epileptic encephalopathy 6B 0 1 0 0 1
Severe neonatal-onset encephalopathy with microcephaly 0 1 0 0 1
Short stature due to primary acid-labile subunit deficiency 0 0 1 0 1
Shprintzen-Goldberg syndrome 0 0 1 0 1
Sialic acid storage disease, severe infantile type; Salla disease 0 0 1 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 1
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 0 0 1 0 1
Skeletal dysplasia 0 0 1 0 1
Skraban-Deardorff syndrome 0 0 1 0 1
Smith-Magenis syndrome 0 1 0 0 1
Snijders blok-fisher syndrome 0 1 0 0 1
Spastic ataxia 2 0 1 0 0 1
Spinocerebellar ataxia 44 0 0 1 0 1
Spinocerebellar ataxia type 29 0 0 1 0 1
Spinocerebellar ataxia type 42; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 1 0 1
Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 0 1 0 0 1
Spinocerebellar ataxia type 6 0 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 26 0 1 0 0 1
Sponastrime dysplasia 0 1 0 0 1
Spondylocostal dysostosis 5 0 1 0 0 1
Spondyloepiphyseal dysplasia tarda 1 0 0 0 1
Stargardt disease 4; Cone-rod dystrophy 12; Retinal macular dystrophy type 2 0 1 0 0 1
Steel syndrome 0 1 0 0 1
Stickler syndrome type 2 0 1 0 0 1
Stromme syndrome 0 0 1 0 1
Structural heart defects and renal anomalies syndrome 0 1 0 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 1 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 0 1 0 1
Syndromic X-linked intellectual disability Najm type 0 1 0 0 1
Systemic lupus erythematosus, susceptibility to, 1 0 1 0 0 1
Thrombomodulin-related bleeding disorder 0 1 0 0 1
Thrombophilia due to protein C deficiency, autosomal recessive 0 1 0 0 1
Thyroid cancer, nonmedullary, 2 0 0 1 0 1
Tibial muscular dystrophy 0 1 0 0 1
Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure 0 1 0 0 1
Tuberous sclerosis 1 0 0 1 0 1
Tuberous sclerosis 2 0 1 0 0 1
UV-sensitive syndrome 3 0 1 0 0 1
Ulnar-mammary syndrome 0 0 1 0 1
Usher syndrome, type 4 0 1 0 0 1
VPS13A-related neurodegenerative disease 1 0 0 0 1
Van der Woude syndrome 1 1 0 0 0 1
Vanishing white matter disease 0 1 0 0 1
Waardenburg syndrome type 2E 0 0 1 0 1
Weiss-Kruszka syndrome 0 1 0 0 1
Wilms tumor 1 0 1 0 0 1
X-linked chondrodysplasia punctata 1 0 1 0 0 1
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic 0 1 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 0 0 1
X-linked reticulate pigmentary disorder 0 0 1 0 1
Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 0 1 0 0 1
Ziegler-Huang syndrome 0 0 1 0 1
diphthamide-deficiency syndrome 0 1 0 0 1

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