ClinVar Miner

Variants from Department of Genetics, Sultan Qaboos University Hospital

Location: Oman  Primary collection method: curation
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
201 60 84 2 3 350

Gene and significance breakdown #

Total genes and gene combinations: 230
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF1 42 5 1 0 0 48
CFTR 3 1 2 0 0 6
CYP1B1 1 2 0 1 0 4
DNAAF11 4 0 0 0 0 4
G6PD 3 0 0 0 1 4
HSD11B2 1 0 3 0 0 4
PRF1 3 0 1 0 0 4
SACS 2 0 2 0 0 4
ASNS, CZ1P-ASNS 2 1 0 0 0 3
BCKDHA 2 0 1 0 0 3
BSCL2, HNRNPUL2-BSCL2 1 1 1 0 0 3
CCDC40 2 1 0 0 0 3
DBT 3 0 0 0 0 3
DYSF 3 0 0 0 0 3
IVD 3 0 0 0 0 3
PLA2G6 3 0 0 0 0 3
RAB3GAP1 3 0 0 0 0 3
RSPH4A 1 1 1 0 0 3
ABCB11 1 1 0 0 0 2
AGXT 1 1 0 0 0 2
ALOX12B 0 0 2 0 0 2
CCDC39 0 0 2 0 0 2
CCNO, LOC129993895 2 0 0 0 0 2
CTSK 1 1 0 0 0 2
CUL7 0 0 2 0 0 2
DNAAF3 0 2 0 0 0 2
EPG5 1 0 1 0 0 2
FAH 2 0 0 0 0 2
FERMT1 1 1 0 0 0 2
FGFR3 2 0 0 0 0 2
GCDH 2 0 0 0 0 2
GLDC 0 0 2 0 0 2
GPT2 0 0 2 0 0 2
GUCY2D 0 2 0 0 0 2
HSPG2 0 0 2 0 0 2
LAMA2 2 0 0 0 0 2
MYO15A 2 0 0 0 0 2
NAGLU 1 1 0 0 0 2
PKHD1 1 0 1 0 0 2
PLCB4 2 0 0 0 0 2
ROR2 2 0 0 0 0 2
SERAC1 0 1 1 0 0 2
SLC52A3 1 0 1 0 0 2
SLC6A8 1 0 1 0 0 2
TGM1 2 0 0 0 0 2
TNFRSF1A 0 1 0 0 1 2
TRMT1 1 0 1 0 0 2
WDR72 2 0 0 0 0 2
AARS1 0 0 1 0 0 1
AARS2 1 0 0 0 0 1
ABCA4 0 1 0 0 0 1
ACADM 1 0 0 0 0 1
ACADVL 0 1 0 0 0 1
AGA 1 0 0 0 0 1
AGL 0 0 1 0 0 1
AIRE 0 1 0 0 0 1
ALDH3A2 1 0 0 0 0 1
ALDH7A1 0 0 1 0 0 1
ALOXE3 0 0 1 0 0 1
AMT 1 0 0 0 0 1
AMT, NICN1 1 0 0 0 0 1
ANTXR2 0 1 0 0 0 1
APTX 1 0 0 0 0 1
AR 1 0 0 0 0 1
ARSA 0 1 0 0 0 1
ARSB 1 0 0 0 0 1
ASL 1 0 0 0 0 1
ASS1 1 0 0 0 0 1
ATP6V0A2 1 0 0 0 0 1
ATP6V0A2, LOC126861666 0 1 0 0 0 1
ATP7B 1 0 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 0 0 0 0 1
AXDND1, NPHS2 1 0 0 0 0 1
BCKDHB 0 1 0 0 0 1
BEST1 0 1 0 0 0 1
BRCA2 1 0 0 0 0 1
BRWD3 1 0 0 0 0 1
C1QTNF5, MFRP 1 0 0 0 0 1
CARS1 0 0 1 0 0 1
CAVIN1 1 0 0 0 0 1
CBS 1 0 0 0 0 1
CFD, ELANE 1 0 0 0 0 1
CFTR, LOC111674475 1 0 0 0 0 1
CFTR, LOC113633877 1 0 0 0 0 1
CHRNE, LOC130060041 1 0 0 0 0 1
CHRNG 1 0 0 0 0 1
CHST3 0 0 1 0 0 1
CLCN1 1 0 0 0 0 1
CLN5 1 0 0 0 0 1
CLN6 1 0 0 0 0 1
CNGA3 1 0 0 0 0 1
COA8 0 0 1 0 0 1
COL18A1, SLC19A1 1 0 0 0 0 1
COL2A1 0 1 0 0 0 1
COL7A1 1 0 0 0 0 1
CPLANE1 0 0 0 1 0 1
CPT2 0 0 1 0 0 1
CSTB, LOC109029533, LOC130066788 1 0 0 0 0 1
CTSC 0 0 1 0 0 1
DDHD2 1 0 0 0 0 1
DEAF1 0 1 0 0 0 1
DM1, DMPK, LOC107075317, LOC109461477 1 0 0 0 0 1
DNAAF5 1 0 0 0 0 1
DNAH11 0 1 0 0 0 1
DNAH5 0 0 1 0 0 1
DNAH5, LOC107457585 1 0 0 0 0 1
DNAJB2 0 1 0 0 0 1
DNAL1 0 1 0 0 0 1
DSC2 0 0 1 0 0 1
DSTYK 0 0 1 0 0 1
ELMO2 0 1 0 0 0 1
ERCC6 0 0 1 0 0 1
ETFDH 1 0 0 0 0 1
EXOSC2 0 0 1 0 0 1
FA2H 0 1 0 0 0 1
FA2H, LOC130059394 0 0 1 0 0 1
FARSB 0 1 0 0 0 1
FAT4 1 0 0 0 0 1
FBN1 0 0 1 0 0 1
FGD1 0 0 1 0 0 1
FH 0 1 0 0 0 1
FLVCR2 0 0 1 0 0 1
FMR1 1 0 0 0 0 1
FMR1, FRAXA, LOC107032825, LOC129929053 1 0 0 0 0 1
GALC 0 1 0 0 0 1
GALNS 0 0 1 0 0 1
GALT 1 0 0 0 0 1
GAN 1 0 0 0 0 1
GDF5 1 0 0 0 0 1
GJC2 0 0 1 0 0 1
GLRA1 0 0 1 0 0 1
GM2A 0 0 1 0 0 1
GNPTG 0 0 1 0 0 1
GORAB 0 1 0 0 0 1
HEXB 1 0 0 0 0 1
HPS6, LOC130004578 0 1 0 0 0 1
HR 1 0 0 0 0 1
IDS, LOC106050102 0 0 1 0 0 1
JAM3 1 0 0 0 0 1
KCNH1 0 0 1 0 0 1
KCNQ2 1 0 0 0 0 1
KCTD7 1 0 0 0 0 1
LALTOP, TPO 1 0 0 0 0 1
LDLR 1 0 0 0 0 1
LHX3 1 0 0 0 0 1
LIFR 1 0 0 0 0 1
LINS1 0 0 1 0 0 1
LOC106029312, NCF1 1 0 0 0 0 1
LOC111811965, MIR4733HG, NF1 1 0 0 0 0 1
LOC126859690, PKHD1 1 0 0 0 0 1
LOC129935594, PNKD 0 1 0 0 0 1
LOC129992304, QDPR 1 0 0 0 0 1
LYST 1 0 0 0 0 1
MAN2B1 1 0 0 0 0 1
MBOAT7 0 0 1 0 0 1
MCIDAS 0 0 1 0 0 1
MCM3AP 0 0 1 0 0 1
MCOLN1 0 0 1 0 0 1
MEFV 0 0 1 0 0 1
MINPP1 1 0 0 0 0 1
MPV17 0 1 0 0 0 1
MTHFR 0 0 1 0 0 1
MTMR2 1 0 0 0 0 1
MVP-DT, PRRT2 1 0 0 0 0 1
MYO7A 0 1 0 0 0 1
NBN 0 0 1 0 0 1
NCAPG2 0 0 1 0 0 1
NDUFS2 0 0 1 0 0 1
NEB, RIF1 1 0 0 0 0 1
NEK10 1 0 0 0 0 1
NEUROD2 0 0 1 0 0 1
NHLRC1 1 0 0 0 0 1
NIPBL 0 0 1 0 0 1
NKX6-2 1 0 0 0 0 1
NLGN3 0 0 1 0 0 1
NOD2 0 0 1 0 0 1
NPC1 0 0 1 0 0 1
NPHS2 1 0 0 0 0 1
NR0B1 1 0 0 0 0 1
NR2E3 0 1 0 0 0 1
NRL 0 1 0 0 0 1
ODAD2 1 0 0 0 0 1
PCCA 0 0 1 0 0 1
PCCB 1 0 0 0 0 1
PGAP3 1 0 0 0 0 1
PHKG2 0 1 0 0 0 1
PIGA 0 1 0 0 0 1
PKD1 0 1 0 0 0 1
PLP1, RAB9B 1 0 0 0 0 1
POC1A 0 1 0 0 0 1
POLG 1 0 0 0 0 1
POU1F1 1 0 0 0 0 1
PTPN23 0 0 1 0 0 1
PYCR1 1 0 0 0 0 1
PYCR2 1 0 0 0 0 1
RAD50 0 0 0 0 1 1
RET 0 0 1 0 0 1
RPE65 0 1 0 0 0 1
RSPH9 0 1 0 0 0 1
RXYLT1 0 0 1 0 0 1
SELENON 1 0 0 0 0 1
SHROOM4 0 0 1 0 0 1
SIGMAR1 1 0 0 0 0 1
SLC25A1 0 0 1 0 0 1
SLC37A4 0 0 1 0 0 1
SLC4A1 1 0 0 0 0 1
SMARCA2 0 0 1 0 0 1
SPAG1 1 0 0 0 0 1
SPART 1 0 0 0 0 1
SPINK1 0 0 1 0 0 1
SPINK5 1 0 0 0 0 1
SUCLA2 0 1 0 0 0 1
SUOX 1 0 0 0 0 1
SV2A 0 1 0 0 0 1
TARS2 0 0 1 0 0 1
TBCE 1 0 0 0 0 1
TCF4 1 0 0 0 0 1
THRB 0 1 0 0 0 1
TMEM138 0 0 1 0 0 1
TMEM67 1 0 0 0 0 1
TPO 1 0 0 0 0 1
TPP1 0 1 0 0 0 1
TRIM37 1 0 0 0 0 1
TSHR 0 0 1 0 0 1
UFC1 1 0 0 0 0 1
UGP2 1 0 0 0 0 1
USH1C 0 0 1 0 0 1
VPS13B 0 1 0 0 0 1
WDR19 0 1 0 0 0 1
WNT10B 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 208
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neurofibromatosis, type 1 43 5 1 0 0 49
Primary ciliary dyskinesia 14 7 5 0 0 26
Cystic fibrosis 5 1 0 0 0 6
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 3 0 0 0 1 4
Apparent mineralocorticoid excess 1 0 3 0 0 4
Charlevoix-Saguenay spastic ataxia 2 0 2 0 0 4
Familial hemophagocytic lymphohistiocytosis 2 3 0 1 0 0 4
Glaucoma 3A 1 2 0 1 0 4
Glycine encephalopathy 2 0 2 0 0 4
Maple syrup urine disease 3 1 0 0 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2B 3 0 0 0 0 3
Congenital generalized lipodystrophy type 2 1 1 1 0 0 3
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 2 1 0 0 0 3
Hereditary pancreatitis 0 0 3 0 0 3
Isovaleryl-CoA dehydrogenase deficiency 3 0 0 0 0 3
Maple syrup urine disease type 1A 2 0 1 0 0 3
Warburg micro syndrome 1 3 0 0 0 0 3
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 1 1 0 0 2
3M syndrome 1 0 0 2 0 0 2
Amelogenesis imperfecta hypomaturation type 2A3 2 0 0 0 0 2
Auriculocondylar syndrome 2 2 0 0 0 0 2
Autosomal recessive Robinow syndrome 2 0 0 0 0 2
Autosomal recessive congenital ichthyosis 1 2 0 0 0 0 2
Autosomal recessive congenital ichthyosis 2 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 3 2 0 0 0 0 2
Autosomal recessive polycystic kidney disease 2 0 0 0 0 2
Brown-Vialetto-van Laere syndrome 1 1 0 1 0 0 2
Creatine transporter deficiency 1 0 1 0 0 2
Cutis laxa with osteodystrophy 1 1 0 0 0 2
Deficiency of iodide peroxidase 2 0 0 0 0 2
Glutamate pyruvate transaminase 2 deficiency 0 0 2 0 0 2
Glutaric aciduria, type 1 2 0 0 0 0 2
Hereditary spastic paraplegia 35 0 1 1 0 0 2
Infantile neuroaxonal dystrophy 2 0 0 0 0 2
Intellectual developmental disorder, autosomal recessive 68 1 0 1 0 0 2
Kindler syndrome 1 1 0 0 0 2
Leber congenital amaurosis 1 0 2 0 0 0 2
Merosin deficient congenital muscular dystrophy 2 0 0 0 0 2
Mucopolysaccharidosis, MPS-III-B 1 1 0 0 0 2
Nephrotic syndrome, type 2 2 0 0 0 0 2
Neurodegeneration with brain iron accumulation 2B 2 0 0 0 0 2
Primary hyperoxaluria, type I 1 1 0 0 0 2
Progressive familial intrahepatic cholestasis type 2 1 1 0 0 0 2
Propionic acidemia 1 0 1 0 0 2
Pyknodysostosis 1 1 0 0 0 2
TNF receptor-associated periodic fever syndrome (TRAPS) 0 1 0 0 1 2
Tyrosinemia type I 2 0 0 0 0 2
Vici syndrome 1 0 1 0 0 2
Achondroplasia 1 0 0 0 0 1
Achromatopsia 2 1 0 0 0 0 1
Aicardi-Goutieres syndrome 1 1 0 0 0 0 1
Alopecia universalis congenita 1 0 0 0 0 1
Androgen resistance syndrome 1 0 0 0 0 1
Argininosuccinate lyase deficiency 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 11 0 0 1 0 0 1
Aspartylglucosaminuria 1 0 0 0 0 1
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 1 0 0 0 0 1
Autism, susceptibility to, X-linked 1 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 3 0 0 1 0 0 1
Autosomal recessive distal spinal muscular atrophy 2 1 0 0 0 0 1
Autosomal recessive multiple pterygium syndrome 1 0 0 0 0 1
Blau syndrome 0 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 1 0 0 0 0 1
Carnitine palmitoyl transferase II deficiency, severe infantile form 0 0 1 0 0 1
Cerebrooculofacioskeletal syndrome 1 0 0 1 0 0 1
Ceroid lipofuscinosis, neuronal, 6A 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4B1 1 0 0 0 0 1
Chédiak-Higashi syndrome 1 0 0 0 0 1
Citrullinemia type I 1 0 0 0 0 1
Classic homocystinuria 1 0 0 0 0 1
Cohen syndrome 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 21 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 8 1 0 0 0 0 1
Congenital adrenal hypoplasia, X-linked 1 0 0 0 0 1
Congenital generalized lipodystrophy type 4 1 0 0 0 0 1
Congenital myasthenic syndrome 4C 1 0 0 0 0 1
Congenital myotonia, autosomal recessive form 1 0 0 0 0 1
Cornelia de Lange syndrome 1 0 0 1 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 0 0 1
Deficiency of alpha-mannosidase 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 29 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 7 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 72 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 83 1 0 0 0 0 1
Dihydropteridine reductase deficiency 1 0 0 0 0 1
Eichsfeld type congenital muscular dystrophy 1 0 0 0 0 1
Enhanced S-cone syndrome 0 1 0 0 0 1
Familial Mediterranean fever, autosomal dominant 0 0 1 0 0 1
Fowler syndrome 0 0 1 0 0 1
Fragile X syndrome 1 0 0 0 0 1
Fragile X-associated tremor/ataxia syndrome 1 0 0 0 0 1
Fumarase deficiency 0 1 0 0 0 1
GNPTG-mucolipidosis 0 0 1 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 1 0 0 0 1
Geroderma osteodysplastica 0 1 0 0 0 1
Giant axonal neuropathy 1 1 0 0 0 0 1
Glucose-6-phosphate transport defect 0 0 1 0 0 1
Glycogen storage disease IXc 0 1 0 0 0 1
Glycogen storage disease type III 0 0 1 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 1 0 0 0 0 1
Grebe syndrome 1 0 0 0 0 1
Hereditary spastic paraplegia 23 0 0 1 0 0 1
Hereditary spastic paraplegia 54 1 0 0 0 0 1
Hermansky-Pudlak syndrome 6 0 1 0 0 0 1
Hyaline fibromatosis syndrome 0 1 0 0 0 1
Hypercholesterolemia, familial, 1 1 0 0 0 0 1
Hyperekplexia 1 0 0 1 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 1 0 0 0 0 1
Hypomyelinating leukodystrophy 10 1 0 0 0 0 1
Hypomyelinating leukodystrophy 2 0 0 1 0 0 1
Hypoparathyroidism-retardation-dysmorphism syndrome 1 0 0 0 0 1
Hypothyroidism due to TSH receptor mutations 0 0 1 0 0 1
Infantile convulsions and choreoathetosis 1 0 0 0 0 1
Intellectual disability, X-linked 93 1 0 0 0 0 1
Intellectual disability, autosomal recessive 27 0 0 1 0 0 1
Intellectual disability, autosomal recessive 57 0 0 1 0 0 1
Intellectual disability-epilepsy-extrapyramidal syndrome 0 1 0 0 0 1
Isolated microphthalmia 5 1 0 0 0 0 1
Joubert syndrome 16 0 0 1 0 0 1
Joubert syndrome 17 0 0 0 1 0 1
Khan-Khan-Katsanis syndrome 0 0 1 0 0 1
Kniest dysplasia 0 1 0 0 0 1
Knobloch syndrome 1 0 0 0 0 1
Lafora disease 1 0 0 0 0 1
Leber congenital amaurosis 2 0 1 0 0 0 1
Lethal Kniest-like syndrome 0 0 1 0 0 1
Marfan syndrome 0 0 1 0 0 1
Meckel syndrome, type 3 1 0 0 0 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 0 0 0 1
Metachromatic leukodystrophy 0 1 0 0 0 1
Microcephaly, developmental delay, and brittle hair syndrome 0 0 1 0 0 1
Microcephaly, normal intelligence and immunodeficiency 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 6 0 0 1 0 0 1
Mitochondrial complex IV deficiency, nuclear type 17 0 0 1 0 0 1
Mucolipidosis type IV 0 0 1 0 0 1
Mucopolysaccharidosis type 6 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-II 0 0 1 0 0 1
Mucopolysaccharidosis, MPS-IV-A 0 0 1 0 0 1
Mulibrey nanism syndrome 1 0 0 0 0 1
Multiple acyl-CoA dehydrogenase deficiency 1 0 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 1 0 0 0 1
Multiple endocrine neoplasia type 2A 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 0 0 1 0 0 1
Myasthenic syndrome, congenital, 23, presynaptic 0 0 1 0 0 1
Nemaline myopathy 2 1 0 0 0 0 1
Netherton syndrome 1 0 0 0 0 1
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 0 1 0 0 1
Neurodevelopmental disorder with spasticity and poor growth 1 0 0 0 0 1
Neuronal ceroid lipofuscinosis 2 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 5 1 0 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 5 0 1 0 0 0 1
Neutropenia, severe congenital, 1, autosomal dominant 1 0 0 0 0 1
Nicolaides-Baraitser syndrome 0 0 1 0 0 1
Niemann-Pick disease, type C1 0 0 1 0 0 1
Nijmegen breakage syndrome-like disorder 0 0 0 0 1 1
Non-acquired combined pituitary hormone deficiency with spine abnormalities 1 0 0 0 0 1
PYCR1-related de Barsy syndrome 1 0 0 0 0 1
Papillon-Lefèvre syndrome 0 0 1 0 0 1
Paroxysmal nonkinesigenic dyskinesia 1 0 1 0 0 0 1
Pelizaeus-Merzbacher disease 1 0 0 0 0 1
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 0 0 1 0 0 1
Pitt-Hopkins syndrome 1 0 0 0 0 1
Pituitary hormone deficiency, combined, 1 1 0 0 0 0 1
Polycystic kidney disease 4 0 0 1 0 0 1
Polycystic kidney disease, adult type 0 1 0 0 0 1
Polyglandular autoimmune syndrome, type 1 0 1 0 0 0 1
Pontocerebellar hypoplasia, type 16 1 0 0 0 0 1
Porencephaly-microcephaly-bilateral congenital cataract syndrome 1 0 0 0 0 1
Premature ovarian failure 1 1 0 0 0 0 1
Primary intraosseous venous malformation 0 1 0 0 0 1
Progressive myoclonic epilepsy type 3 1 0 0 0 0 1
Progressive sclerosing poliodystrophy 1 0 0 0 0 1
Pyridoxine-dependent epilepsy 0 0 1 0 0 1
Rajab interstitial lung disease with brain calcifications 0 1 0 0 0 1
Recessive dystrophic epidermolysis bullosa 1 0 0 0 0 1
Renal tubular acidosis, distal, 4, with hemolytic anemia 1 0 0 0 0 1
Retinitis pigmentosa 27 0 1 0 0 0 1
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 0 0 1 0 0 1
Sandhoff disease 1 0 0 0 0 1
Schwartz-Jampel syndrome 0 0 1 0 0 1
See cases 0 1 0 0 0 1
Senior-Loken syndrome 8 0 1 0 0 0 1
Severe early-childhood-onset retinal dystrophy 0 1 0 0 0 1
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 0 1 0 0 0 1
Sjögren-Larsson syndrome 1 0 0 0 0 1
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 1 0 0 0 0 1
Split hand-foot malformation 6 0 0 1 0 0 1
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 0 1 0 0 1
Steinert myotonic dystrophy syndrome 1 0 0 0 0 1
Stüve-Wiedemann syndrome 1 1 0 0 0 0 1
Sulfite oxidase deficiency 1 0 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 0 1 0 0 1
Tay-Sachs disease, variant AB 0 0 1 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 0 1
Thrombophilia due to thrombin defect 0 0 1 0 0 1
Thyroid hormone resistance, generalized, autosomal recessive 0 1 0 0 0 1
Troyer syndrome 1 0 0 0 0 1
Unverricht-Lundborg syndrome 1 0 0 0 0 1
Usher syndrome type 1 0 1 0 0 0 1
Usher syndrome type 1C 0 0 1 0 0 1
Van Maldergem syndrome 2 1 0 0 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 0 1 0 0 0 1
Vitelliform macular dystrophy 2 0 1 0 0 0 1
Wilson disease 1 0 0 0 0 1
X-linked intellectual disability, Stocco dos Santos type 0 0 1 0 0 1
Zimmermann-Laband syndrome 1 0 0 1 0 0 1

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