ClinVar Miner

Variants from SIB Swiss Institute of Bioinformatics

Location: Switzerland — Primary collection method: curation
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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

pathogenic likely pathogenic uncertain significance likely benign benign total
110 345 195 16 80 746

Gene and significance breakdown #

Total genes and gene combinations: 307
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EPHB4 3 9 16 0 0 28
MYORG 1 7 16 0 0 24
EPG5 5 11 6 0 0 22
CHD3 8 10 2 0 0 20
MPV17 1 13 6 0 0 20
TLK2 8 5 6 0 0 19
ACTL6B 0 9 4 0 0 13
PPP2CA 1 10 1 0 0 12
KMT2B 0 4 7 0 0 11
DEGS1 1 5 4 0 0 10
CDC45 0 5 4 0 0 9
MYH3 2 3 4 0 0 9
PKHD1 0 0 3 1 5 9
TRIP11 5 4 0 0 0 9
ATP7B 0 2 4 1 1 8
MAPK8IP3 0 5 3 0 0 8
PATL2 1 4 3 0 0 8
CDC14A 4 3 0 0 0 7
GBA2 4 3 0 0 0 7
TREM2 2 3 2 0 0 7
C15orf41 0 4 2 0 0 6
FN1 0 5 1 0 0 6
GPAA1 0 5 1 0 0 6
PARS2 0 0 6 0 0 6
RHOBTB2 2 4 0 0 0 6
SBDS 0 0 5 0 1 6
TRIT1 1 1 4 0 0 6
TRPV6 0 6 0 0 0 6
MTHFD1 1 4 0 0 0 5
PDZD7 0 4 1 0 0 5
SYT1 0 5 0 0 0 5
YWHAG 0 3 2 0 0 5
ANO5 0 3 1 0 0 4
ARSB 0 3 0 0 1 4
BIN1 0 4 0 0 0 4
CARMIL2 1 3 0 0 0 4
COL3A1 2 2 0 0 0 4
IFT81 0 3 1 0 0 4
JAG1 0 2 1 0 1 4
KMT5B 0 1 3 0 0 4
NFIB 1 3 0 0 0 4
ZNF341 4 0 0 0 0 4
BCKDHA 0 2 0 0 1 3
BMP2 0 3 0 0 0 3
C1orf105, PIGC 0 3 0 0 0 3
CBS 0 1 0 1 1 3
CCN6 2 0 0 1 0 3
CHD7 0 0 0 1 2 3
COL4A3, MFF-DT 0 0 2 0 1 3
CPLX1 0 2 1 0 0 3
CYFIP2 0 3 0 0 0 3
DNAJB11 1 2 0 0 0 3
FBN1 0 1 1 1 0 3
GGA3, NUP85 0 2 1 0 0 3
INTU 0 3 0 0 0 3
KANSL1 3 0 0 0 0 3
KMT2C 0 3 0 0 0 3
LOC101928525, MRPS2 3 0 0 0 0 3
MBD5 0 0 3 0 0 3
MFN2 0 2 1 0 0 3
MYO7A 0 0 0 0 3 3
NARS2 0 3 0 0 0 3
NDUFS3 0 2 1 0 0 3
NUP133 0 3 0 0 0 3
PIGS 0 3 0 0 0 3
PMM2 0 2 0 0 1 3
POLG 1 0 1 0 1 3
PUM1 0 3 0 0 0 3
SELENBP1 0 3 0 0 0 3
TGFB1 0 3 0 0 0 3
USH2A 0 2 0 0 1 3
WDR35 1 2 0 0 0 3
ABCG8 0 1 1 0 0 2
AHI1 0 1 0 0 1 2
APC 0 0 1 0 1 2
ARID2 0 2 0 0 0 2
ASPM 0 0 0 0 2 2
ATAD1 1 0 1 0 0 2
ATM 0 0 1 0 1 2
C19orf12 1 0 0 0 1 2
CACNA1A 0 1 1 0 0 2
CACNA1S 1 0 0 0 1 2
CAPN3 1 0 0 0 1 2
CDKL5, RS1 0 2 0 0 0 2
CFTR 0 0 2 0 0 2
COL7A1 0 0 0 0 2 2
CYB5A 0 2 0 0 0 2
DHX38 0 1 1 0 0 2
FAT2, SLC36A1 0 0 2 0 0 2
FDX2 0 1 1 0 0 2
FGFR2 1 0 0 0 1 2
GDF6 1 0 1 0 0 2
GINS1 0 2 0 0 0 2
GPC4 2 0 0 0 0 2
HAAO, MTA3 2 0 0 0 0 2
HMGCS2 0 2 0 0 0 2
IFT43 0 2 0 0 0 2
IREB2 0 2 0 0 0 2
KCNH2 0 1 1 0 0 2
KCNQ1 0 1 1 0 0 2
KDM5B 0 2 0 0 0 2
LDHD 0 2 0 0 0 2
LIPT2, LOC100287896 0 2 0 0 0 2
MCCC2 0 1 1 0 0 2
MECP2 0 0 1 0 1 2
MKKS 0 1 0 0 1 2
MRPS34 0 2 0 0 0 2
MYBPC3 0 0 2 0 0 2
NF1 0 0 2 0 0 2
NUP107 1 1 0 0 0 2
NUP160 0 0 2 0 0 2
PAK1 0 2 0 0 0 2
PCGF2 0 2 0 0 0 2
PEX1 1 0 0 0 1 2
POMT2 0 1 0 0 1 2
RAB11B 0 2 0 0 0 2
SCN5A 0 1 1 0 0 2
SETBP1 1 0 0 0 1 2
SGCB 0 2 0 0 0 2
SGSH 0 1 0 0 1 2
SLC17A5 1 0 0 0 1 2
SPAST 0 0 2 0 0 2
TBC1D8B 0 2 0 0 0 2
TNNT3 1 1 0 0 0 2
TUBB4B 0 2 0 0 0 2
AAAS 0 1 0 0 0 1
ABCB4 0 0 0 0 1 1
ABCD1 0 1 0 0 0 1
ACAD9 0 0 1 0 0 1
ACADVL 0 0 1 0 0 1
ACAT1 0 1 0 0 0 1
ADPRS 1 0 0 0 0 1
AEBP1 0 1 0 0 0 1
AGRN 0 0 0 0 1 1
AGXT 0 1 0 0 0 1
AK7 0 1 0 0 0 1
ALDH18A1 0 0 0 0 1 1
ALDOB 1 0 0 0 0 1
ALG8 0 0 0 0 1 1
ALOX12B 0 1 0 0 0 1
ALPL 0 1 0 0 0 1
AMACR, C1QTNF3-AMACR 0 0 0 0 1 1
ANK1 0 0 0 0 1 1
AP3B1 0 0 0 0 1 1
ARL3 0 0 1 0 0 1
ARSA 0 0 0 0 1 1
ASAH1 0 1 0 0 0 1
ASL 0 1 0 0 0 1
ASPA, SPATA22 0 1 0 0 0 1
ASS1 0 1 0 0 0 1
ATL1 1 0 0 0 0 1
ATP11C 0 1 0 0 0 1
ATP1A3 1 0 0 0 0 1
ATP6V0A2 0 0 0 0 1 1
BBS12 0 0 1 0 0 1
BEST1 0 1 0 0 0 1
BRAF 0 1 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 1 0 0 0 0 1
BSND 0 0 0 0 1 1
C11orf80 0 0 1 0 0 1
CAV3, SSUH2 1 0 0 0 0 1
CCDC103 0 1 0 0 0 1
CCDC39 0 0 1 0 0 1
CCNH, RASA1 0 0 1 0 0 1
CEP290 0 0 0 0 1 1
CFL2 0 0 1 0 0 1
CIB2 0 0 1 0 0 1
CLN5 0 0 0 1 0 1
CLN5, FBXL3 0 0 0 0 1 1
CLN6 0 0 0 0 1 1
CLN8 0 0 0 1 0 1
CLPB 0 1 0 0 0 1
CLPX 0 1 0 0 0 1
CNNM2 0 1 0 0 0 1
COG4 1 0 0 0 0 1
COL5A1 0 0 0 0 1 1
CPLANE1 0 0 1 0 0 1
CUL7 0 0 1 0 0 1
CUX2 0 1 0 0 0 1
DENND5A 0 0 1 0 0 1
DES 0 1 0 0 0 1
DHTKD1 0 1 0 0 0 1
DMD 0 0 0 1 0 1
DNMBP 1 0 0 0 0 1
DSP 0 0 1 0 0 1
DYNC1H1 0 1 0 0 0 1
DYSF 0 1 0 0 0 1
EDAR 1 0 0 0 0 1
EFL1 0 0 1 0 0 1
ENG 0 0 0 1 0 1
ESR1 0 1 0 0 0 1
ESRP1 1 0 0 0 0 1
FGFR1 0 0 0 1 0 1
FLNA 0 0 0 0 1 1
GAA 0 1 0 0 0 1
GAB1 1 0 0 0 0 1
GALC 0 0 1 0 0 1
GALNT3 1 0 0 0 0 1
GALT 0 1 0 0 0 1
GHR 0 0 0 0 1 1
GLA, RPL36A-HNRNPH2 0 0 0 0 1 1
GLI1 0 0 1 0 0 1
GLI3 0 0 0 1 0 1
GP9 0 0 0 0 1 1
GRAP 0 1 0 0 0 1
GUCY2D 0 0 1 0 0 1
HFE, LOC108783645 0 0 1 0 0 1
HIBCH 0 1 0 0 0 1
HNF1B 0 0 1 0 0 1
IKBKB 1 0 0 0 0 1
KCNE1 0 0 1 0 0 1
KCNQ2 1 0 0 0 0 1
KIF5C 1 0 0 0 0 1
KIF7 0 0 0 0 1 1
KL 0 1 0 0 0 1
LDLR 0 0 1 0 0 1
LIPT2 0 1 0 0 0 1
LMNA 0 1 0 0 0 1
LOC105371049, PKD1 0 0 0 0 1 1
LRP5 0 0 1 0 0 1
LTBP3 0 0 1 0 0 1
MAFA 0 1 0 0 0 1
MCCC1 0 1 0 0 0 1
MEFV 0 1 0 0 0 1
MEI1 0 1 0 0 0 1
MRPS7 0 1 0 0 0 1
MYH7 0 0 1 0 0 1
MYL1 0 1 0 0 0 1
MYLK 0 0 0 1 0 1
NDUFAF2 1 0 0 0 0 1
NDUFAF3 0 1 0 0 0 1
NDUFAF4 0 1 0 0 0 1
NLRP1 0 0 1 0 0 1
NLRP3 0 1 0 0 0 1
NOTCH2 0 1 0 0 0 1
NPC1 0 0 0 0 1 1
NPHS1 0 0 0 0 1 1
NTRK1 0 0 0 1 0 1
NUP37 0 1 0 0 0 1
OPA1 0 0 1 0 0 1
ORC4 0 1 0 0 0 1
PANK2 1 0 0 0 0 1
PDGFRB 1 0 0 0 0 1
PEX3 0 1 0 0 0 1
PFKM 0 0 0 0 1 1
PGM1 0 0 0 0 1 1
PHEX, PTCHD1 1 0 0 0 0 1
PHYH 0 0 0 0 1 1
PIK3C2A 0 1 0 0 0 1
PIK3CD 1 0 0 0 0 1
PKP2 0 0 1 0 0 1
PLD3 0 0 1 0 0 1
POLH 0 0 0 1 0 1
POLR1C 1 0 0 0 0 1
PRICKLE1 0 0 0 0 1 1
PRKAG2 1 0 0 0 0 1
PSEN2 0 0 0 1 0 1
PTPRQ 0 0 1 0 0 1
PYGM 0 1 0 0 0 1
RAB18 0 0 0 0 1 1
RAD21 1 0 0 0 0 1
RNASEH2B 0 1 0 0 0 1
RNASEH2C 0 1 0 0 0 1
RUNX2 0 0 0 0 1 1
RYR1 0 1 0 0 0 1
RYR2 0 1 0 0 0 1
SCN1A 0 0 0 0 1 1
SCN8A 0 0 1 0 0 1
SEC61A1 0 1 0 0 0 1
SEMA4A 0 0 0 0 1 1
SERAC1 0 0 1 0 0 1
SGCG 0 0 0 0 1 1
SIX6 0 0 0 0 1 1
SKI 0 1 0 0 0 1
SLC16A2 0 1 0 0 0 1
SLC1A2 0 1 0 0 0 1
SLC22A5 0 0 0 0 1 1
SLC25A42 1 0 0 0 0 1
SLC26A4 0 0 1 0 0 1
SLC39A4 0 0 0 0 1 1
SLC9A7 0 1 0 0 0 1
SMARCB1 0 0 1 0 0 1
SOHLH1 1 0 0 0 0 1
SPG7 0 1 0 0 0 1
SRD5A2 0 1 0 0 0 1
SRPX2 0 0 1 0 0 1
STAMBP 0 1 0 0 0 1
SYNE2 0 0 0 0 1 1
SYNGAP1 0 0 0 0 1 1
TARDBP 0 1 0 0 0 1
TCIRG1 0 0 0 0 1 1
TCN2 0 0 0 0 1 1
TCOF1 0 0 0 0 1 1
TECPR2 0 0 0 0 1 1
TECTA 0 0 0 0 1 1
TMEM106B 0 1 0 0 0 1
TMEM17 0 0 1 0 0 1
TMEM67 0 0 1 0 0 1
TRAK1 0 0 1 0 0 1
TSC2 0 0 0 0 1 1
TTC21B 0 0 1 0 0 1
TXNRD2 0 1 0 0 0 1
UBTF 0 1 0 0 0 1
UFSP2 1 0 0 0 0 1
VIM 0 0 1 0 0 1
WFS1 0 0 1 0 0 1
ZSWIM6 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 307
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Capillary malformation-arteriovenous malformation 2 3 9 16 0 0 28
not specified 0 0 0 0 27 27
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE 1 7 16 0 0 24
Vici syndrome 5 11 6 0 0 22
SNIJDERS BLOK-CAMPEAU SYNDROME 8 10 2 0 0 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 8 5 6 0 0 19
Navajo neurohepatopathy 1 12 6 0 0 19
NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES 1 10 1 0 0 12
Dystonia 28, childhood-onset 0 4 7 0 0 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 0 8 3 0 0 11
LEUKODYSTROPHY, HYPOMYELINATING, 18 1 5 4 0 0 10
Autosomal recessive polycystic kidney disease 0 0 3 1 5 9
Meier-gorlin syndrome 7 0 5 4 0 0 9
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES 0 5 3 0 0 8
OOCYTE MATURATION DEFECT 4 1 4 3 0 0 8
Wilson disease 0 2 4 1 1 8
Deafness, autosomal recessive 32 4 3 0 0 0 7
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 2 3 2 0 0 7
Spastic paraplegia 46, autosomal recessive 4 3 0 0 0 7
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 0 4 2 0 0 6
Combined oxidative phosphorylation deficiency 35 1 1 4 0 0 6
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 2 4 0 0 0 6
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 0 0 6 0 0 6
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 0 5 1 0 0 6
HYPERPARATHYROIDISM, TRANSIENT NEONATAL 0 6 0 0 0 6
Shwachman-Diamond syndrome 1 0 0 5 0 1 6
Spondylometaphyseal dysplasia - Sutcliffe type 0 5 1 0 0 6
ARTHROGRYPOSIS, DISTAL, TYPE 2B3 1 1 3 0 0 5
BAKER-GORDON SYNDROME 0 5 0 0 0 5
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 1 4 0 0 0 5
DEAFNESS, AUTOSOMAL RECESSIVE 57 0 4 1 0 0 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 0 3 2 0 0 5
Goldblatt hypertension 2 3 0 0 0 5
Achondrogenesis, type IA 3 1 0 0 0 4
Autosomal recessive centronuclear myopathy 0 4 0 0 0 4
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE 4 0 0 0 0 4
IMMUNODEFICIENCY 58 1 3 0 0 0 4
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 1 3 0 0 0 4
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 0 1 3 0 0 4
Mucopolysaccharidosis type VI 0 3 0 0 1 4
POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME 2 2 0 0 0 4
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 0 3 1 0 0 4
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 0 2 1 0 0 3
Combined oxidative phosphorylation deficiency 36 3 0 0 0 0 3
Congenital disorder of glycosylation, type Ia 0 2 0 0 1 3
Contractures, pterygia, and variable skeletal fusions syndrome 1A 0 2 1 0 0 3
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES 0 3 0 0 0 3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 0 2 1 0 0 3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 0 3 0 0 0 3
Extra oral halitosis 0 3 0 0 0 3
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 0 3 0 0 0 3
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 0 3 0 0 0 3
Homocystinuria due to CBS deficiency 0 1 0 1 1 3
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 0 3 0 0 0 3
Kleefstra syndrome 2 0 3 0 0 0 3
Koolen-de Vries syndrome 3 0 0 0 0 3
Limb-girdle muscular dystrophy, type 2L 0 2 1 0 0 3
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 0 2 1 0 0 3
Marfan syndrome 0 1 1 1 0 3
Mental retardation, autosomal dominant 1 0 0 3 0 0 3
NEPHROTIC SYNDROME, TYPE 17 0 2 1 0 0 3
NEPHROTIC SYNDROME, TYPE 18 0 3 0 0 0 3
POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE 1 2 0 0 0 3
Progressive pseudorheumatoid dysplasia 2 0 0 1 0 3
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 0 3 0 0 0 3
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY 0 3 0 0 0 3
SPINOCEREBELLAR ATAXIA 47 0 3 0 0 0 3
Short rib polydactyly syndrome 5 1 2 0 0 0 3
Usher syndrome, type 1 0 0 0 0 3 3
3-methylcrotonyl CoA carboxylase 2 deficiency 0 1 1 0 0 2
ARTHROGRYPOSIS, DISTAL, TYPE 2B2 1 1 0 0 0 2
Alagille syndrome 1 0 0 1 0 1 2
Ataxia-telangiectasia syndrome 0 0 1 0 1 2
Bardet-Biedl syndrome 6 0 1 0 0 1 2
CHARGE association 0 0 0 1 1 2
COFFIN-SIRIS SYNDROME 6 0 2 0 0 0 2
Ceroid lipofuscinosis neuronal 5 0 0 0 1 1 2
Combined oxidative phosphorylation deficiency 24 0 2 0 0 0 2
Combined oxidative phosphorylation deficiency 32 0 2 0 0 0 2
Cystic fibrosis 0 0 2 0 0 2
Familial adenomatous polyposis 1 0 0 1 0 1 2
Familial hypertrophic cardiomyopathy 4 0 0 2 0 0 2
Freeman-Sheldon syndrome 2 0 0 0 0 2
HYPEREKPLEXIA 4 1 0 1 0 0 2
IMMUNODEFICIENCY 55 0 2 0 0 0 2
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY 0 2 0 0 0 2
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 0 1 1 0 0 2
Joubert syndrome 3 0 1 0 0 1 2
Juvenile retinoschisis 0 2 0 0 0 2
Keipert syndrome 2 0 0 0 0 2
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 0 2 0 0 0 2
Lactic aciduria due to d-lactic acid 0 2 0 0 0 2
Limb-girdle muscular dystrophy, type 2A 1 0 0 0 1 2
Limb-girdle muscular dystrophy, type 2E 0 2 0 0 0 2
Long QT syndrome 1 0 1 1 0 0 2
Long QT syndrome 2 0 1 1 0 0 2
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 0 2 0 0 0 2
MULTIPLE SYNOSTOSES SYNDROME 4 1 0 1 0 0 2
Maple syrup urine disease 0 2 0 0 0 2
Methemoglobinemia type 4 0 2 0 0 0 2
Mitochondrial myopathy 0 1 1 0 0 2
NEPHROTIC SYNDROME, TYPE 19 0 0 2 0 0 2
NEPHROTIC SYNDROME, TYPE 20 0 2 0 0 0 2
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA 0 2 0 0 0 2
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER 0 2 0 0 0 2
Neurofibromatosis, type 1 0 0 2 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 1 0 0 0 1 2
Recessive dystrophic epidermolysis bullosa 0 0 0 0 2 2
Retinitis pigmentosa 84 0 1 1 0 0 2
Rett syndrome 0 0 1 0 1 2
SPINOCEREBELLAR ATAXIA 45 0 0 2 0 0 2
Sitosterolemia 0 1 1 0 0 2
Spastic paraplegia 4, autosomal dominant 0 0 2 0 0 2
TURNPENNY-FRY SYNDROME 0 2 0 0 0 2
Usher syndrome, type 2A 0 1 0 0 1 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 2 0 0 0 0 2
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 2 0 0 0 2
2-aminoadipic 2-oxoadipic aciduria 0 1 0 0 0 1
3 Methylcrotonyl-CoA carboxylase 1 deficiency 0 1 0 0 0 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 1 0 0 0 1
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 0 1 0 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 0 1 0 0 1
Acrocephalosyndactyly type I 1 0 0 0 0 1
Acromelic frontonasal dysostosis 0 1 0 0 0 1
Acyl-CoA dehydrogenase family, member 9, deficiency of 0 0 1 0 0 1
Adrenoleukodystrophy 0 1 0 0 0 1
Adult hypophosphatasia 0 1 0 0 0 1
Aicardi Goutieres syndrome 2 0 1 0 0 0 1
Aicardi Goutieres syndrome 3 0 1 0 0 0 1
Allan-Herndon-Dudley syndrome 0 1 0 0 0 1
Alport syndrome 3, autosomal dominant 0 0 1 0 0 1
Alport syndrome, autosomal recessive 0 0 1 0 0 1
Alternating hemiplegia of childhood 2 1 0 0 0 0 1
Alzheimer disease, type 4 0 0 0 1 0 1
Amyotrophic lateral sclerosis type 10 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 7 0 0 0 1 0 1
Argininosuccinate lyase deficiency 0 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 1 0 0 1
Autoinflammation with arthritis and dyskeratosis 0 0 1 0 0 1
Autosomal dominant hypohidrotic ectodermal dysplasia 1 0 0 0 0 1
Autosomal recessive congenital ichthyosis 2 0 1 0 0 0 1
Bardet-Biedl syndrome 12 0 0 1 0 0 1
Bernard Soulier syndrome 0 0 0 0 1 1
Bestrophinopathy, autosomal recessive 0 1 0 0 0 1
Beta-hydroxyisobutyryl-CoA deacylase deficiency 0 1 0 0 0 1
Brugada syndrome 1 0 0 1 0 0 1
CATARACT 48 1 0 0 0 0 1
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE 0 1 0 0 0 1
Capillary malformation-arteriovenous malformation 1 0 0 1 0 0 1
Cataract 30 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 1 0 0 0 1
Ceroid lipofuscinosis neuronal 6 0 0 0 0 1 1
Ceroid lipofuscinosis neuronal 8 0 0 0 1 0 1
Charcot-Marie-Tooth disease, axonal, type 2O 0 1 0 0 0 1
Choroidal dystrophy, central areolar 1 0 0 1 0 0 1
Ciliary dyskinesia, primary, 14 0 0 1 0 0 1
Ciliary dyskinesia, primary, 17 0 1 0 0 0 1
Citrullinemia type I 0 1 0 0 0 1
Cleidocranial dysostosis 0 0 0 0 1 1
Combined oxidative phosphorylation deficiency 34 0 1 0 0 0 1
Congenital disorder of glycosylation type 1H 0 0 0 0 1 1
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 0 1 0 0 0 1
Cortical dysplasia, complex, with other brain malformations 2 1 0 0 0 0 1
Crouzon syndrome 0 0 0 0 1 1
Cutis laxa-corneal clouding-oligophrenia syndrome 0 0 0 0 1 1
DEAFNESS, AUTOSOMAL DOMINANT 73 0 0 1 0 0 1
DEAFNESS, AUTOSOMAL RECESSIVE 109 1 0 0 0 0 1
DEAFNESS, AUTOSOMAL RECESSIVE 114 0 1 0 0 0 1
DEAFNESS, AUTOSOMAL RECESSIVE 94 0 1 0 0 0 1
Deafness, autosomal recessive 26 1 0 0 0 0 1
Deafness, autosomal recessive 48 0 0 1 0 0 1
Deafness, congenital heart defects, and posterior embryotoxon 0 1 0 0 0 1
Decreased antibody level in blood 0 1 0 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 0 1 0 0 0 1
Deficiency of acetyl-CoA acetyltransferase 0 1 0 0 0 1
Dilated cardiomyopathy 1A 0 1 0 0 0 1
Dilated cardiomyopathy 1S 0 0 1 0 0 1
Dilated cardiomyopathy 3B 0 0 0 1 0 1
Dominant hereditary optic atrophy 0 0 1 0 0 1
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 0 1 0 0 0 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 0 1 0 0 0 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 0 0 1 0 0 1
Early infantile epileptic encephalopathy 13 0 0 1 0 0 1
Early infantile epileptic encephalopathy 7 1 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 0 0 1 1
Enlarged vestibular aqueduct 0 0 1 0 0 1
Epileptic encephalopathy, early infantile, 41 0 1 0 0 0 1
Epileptic encephalopathy, early infantile, 49 0 0 1 0 0 1
Episodic ataxia type 2 0 1 0 0 0 1
Estrogen resistance 0 1 0 0 0 1
Exudative vitreoretinopathy 4 0 0 1 0 0 1
Fabry disease 0 0 0 0 1 1
Familial Mediterranean fever 0 1 0 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 1 0 0 0 0 1
Familial hypercholesterolemia 1 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 6 1 0 0 0 0 1
Familial hypoplastic, glomerulocystic kidney 0 0 1 0 0 1
Farber disease 0 1 0 0 0 1
Finnish congenital nephrotic syndrome 0 0 0 0 1 1
GALLOWAY-MOWAT SYNDROME 7 1 0 0 0 0 1
GELEOPHYSIC DYSPLASIA 3 0 0 1 0 0 1
GLUCOCORTICOID DEFICIENCY 5 0 1 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 0 1 0 0 1
Glucocorticoid deficiency with achalasia 0 1 0 0 0 1
Glycogen storage disease, type II 0 1 0 0 0 1
Glycogen storage disease, type V 0 1 0 0 0 1
Glycogen storage disease, type VII 0 0 0 0 1 1
Greig cephalopolysyndactyly syndrome 0 0 0 1 0 1
HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED 0 1 0 0 0 1
HYDATIDIFORM MOLE, RECURRENT, 3 0 1 0 0 0 1
HYDATIDIFORM MOLE, RECURRENT, 4 0 0 1 0 0 1
Hajdu-Cheney syndrome 0 1 0 0 0 1
Hemochromatosis type 1 0 0 1 0 0 1
Hereditary acrodermatitis enteropathica 0 0 0 0 1 1
Hereditary fructosuria 1 0 0 0 0 1
Hereditary hemorrhagic telangiectasia type 1 0 0 0 1 0 1
Hereditary insensitivity to pain with anhidrosis 0 0 0 1 0 1
Hydrolethalus syndrome 2 0 0 0 0 1 1
Hyperphosphatemic familial tumoral calcinosis 1 1 0 0 0 0 1
Hyperphosphatemic familial tumoral calcinosis 3 0 1 0 0 0 1
Hypokalemic periodic paralysis 1 1 0 0 0 0 1
Hypomagnesemia, seizures, and mental retardation 1 0 1 0 0 0 1
IMMUNODEFICIENCY 15A 1 0 0 0 0 1
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 0 1 0 0 0 1
Immunodeficiency 14 1 0 0 0 0 1
Infantile myofibromatosis 1 1 0 0 0 0 1
Islet cell adenomatosis 0 1 0 0 0 1
Joubert syndrome 5 0 0 0 0 1 1
Joubert syndrome 6 0 0 1 0 0 1
Kallmann syndrome 2 0 0 0 1 0 1
Kallmann syndrome 5 0 0 0 0 1 1
Keratitis fugax hereditaria 0 1 0 0 0 1
LEUKODYSTROPHY, HYPOMYELINATING, 16 0 1 0 0 0 1
Laron-type isolated somatotropin defect 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 2B 0 1 0 0 0 1
Long QT syndrome 3 0 1 0 0 0 1
Long QT syndrome 5 0 0 1 0 0 1
METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION 1 0 0 0 0 1
MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE 0 1 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 1 0 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 0 1 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 0 1 0 0 0 1
MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY 0 1 0 0 0 1
Malignant hyperthermia, susceptibility to, 1 0 1 0 0 0 1
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 1 0 0 0 0 1
Meier-Gorlin syndrome 2 0 1 0 0 0 1
Mental retardation, autosomal dominant 15 0 0 1 0 0 1
Mental retardation, autosomal dominant 5 0 0 0 0 1 1
Metachromatic leukodystrophy 0 0 0 0 1 1
Microcephaly-capillary malformation syndrome 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-III-A 0 1 0 0 0 1
Mungan syndrome 1 0 0 0 0 1
Muscular dystrophy 0 1 0 0 0 1
Myasthenic syndrome, congenital, 8 0 0 0 0 1 1
Myofibrillar myopathy 1 0 1 0 0 0 1
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 1 0 0 0 0 1
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY 0 1 0 0 0 1
Nemaline myopathy 7 0 0 1 0 0 1
Nephronophthisis 12 0 0 1 0 0 1
Nephrotic syndrome, type 11 0 1 0 0 0 1
Neurodegeneration with brain iron accumulation 4 1 0 0 0 0 1
Niemann-Pick disease type C1 0 0 0 0 1 1
Noonan syndrome 7 0 1 0 0 0 1
OCULOSKELETODENTAL SYNDROME 0 1 0 0 0 1
OVARIAN DYSGENESIS 5 1 0 0 0 0 1
Orofaciodigital syndrome 6 0 0 1 0 0 1
Orofaciodigital syndrome I 0 0 1 0 0 1
Periventricular nodular heterotopia 1 0 0 0 0 1 1
Peroxisome biogenesis disorder 10b 0 1 0 0 0 1
Phytanic acid storage disease 0 0 0 0 1 1
Pigmentary pallidal degeneration 1 0 0 0 0 1
Polycystic kidney disease, adult type 0 0 0 0 1 1
Polydactyly, preaxial I 0 0 1 0 0 1
Primary autosomal recessive microcephaly 5 0 0 0 0 1 1
Primary hyperoxaluria, type I 0 1 0 0 0 1
Progressive familial intrahepatic cholestasis 3 0 0 0 0 1 1
Progressive sclerosing poliodystrophy 1 0 0 0 0 1
Protoporphyria, erythropoietic, 2 0 1 0 0 0 1
Retinitis pigmentosa 39 0 1 0 0 0 1
Retinitis pigmentosa 81 0 1 0 0 0 1
Retinitis pigmentosa 83 0 0 1 0 0 1
Rippling muscle disease 2 1 0 0 0 0 1
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked 0 0 1 0 0 1
SAUL-WILSON SYNDROME 1 0 0 0 0 1
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 0 1 0 0 0 1
SHWACHMAN-DIAMOND SYNDROME 2 0 0 1 0 0 1
SPERMATOGENIC FAILURE 27 0 1 0 0 0 1
SPINOCEREBELLAR ATAXIA 46 0 0 1 0 0 1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 1 0 0 0 0 1
Salla disease 1 0 0 0 0 1
Schinzel-Giedion syndrome 1 0 0 0 0 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0 0 1 0 0 1
Severe autosomal recessive muscular dystrophy of childhood - North African type 0 0 0 0 1 1
Severe myoclonic epilepsy in infancy 0 0 0 0 1 1
Shprintzen-Goldberg syndrome 0 1 0 0 0 1
Spastic paraplegia 17 1 0 0 0 0 1
Spastic paraplegia 3 1 0 0 0 0 1
Spastic paraplegia 7 0 1 0 0 0 1
Spinocerebellar ataxia 6 0 0 1 0 0 1
Spongy degeneration of central nervous system 0 1 0 0 0 1
Tetralogy of Fallot 0 1 0 0 0 1
Three M syndrome 1 0 0 1 0 0 1
Tuberous sclerosis 2 0 0 0 0 1 1
Very long chain acyl-CoA dehydrogenase deficiency 0 0 1 0 0 1
WFS1-Related Disorders 0 0 1 0 0 1
Xeroderma pigmentosum, variant type 0 0 0 1 0 1

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