ClinVar Miner

Variants from Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

Location: Germany  Primary collection method: clinical testing
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 not provided total
52 108 127 1 0 1 289

Gene and significance breakdown #

Total genes and gene combinations: 232
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
PKD1 1 4 5 0 0 10
PKHD1 0 0 4 0 0 4
WDR11 4 0 0 0 0 4
CEP290 0 3 0 0 0 3
MYH7 0 1 2 0 0 3
PKD2 1 1 1 0 0 3
POGZ 0 3 0 0 0 3
SACS 0 1 2 0 0 3
ACAN 0 1 1 0 0 2
ATL1 0 2 0 0 0 2
CACNA1A 0 0 2 0 0 2
CLCN1 0 1 1 0 0 2
CLCN3 0 1 1 0 0 2
COL4A5 1 0 1 0 0 2
COL5A1 1 0 1 0 0 2
COQ8A 0 0 2 0 0 2
DLL1 1 1 0 0 0 2
DYNC1H1 0 0 2 0 0 2
GATA3 0 0 2 0 0 2
GBF1 0 0 2 0 0 2
GCK 0 2 0 0 0 2
GJB1 0 1 1 0 0 2
HMBS 0 1 1 0 0 2
HSPB1 0 0 2 0 0 2
IGHMBP2 1 1 0 0 0 2
KITLG 0 1 1 0 0 2
LOC100507346, PTCH1 1 1 0 0 0 2
MFN2 0 0 2 0 0 2
MME 0 1 1 0 0 2
MYO9A 0 0 2 0 0 2
NBEA 0 2 0 0 0 2
NEK1 0 1 1 0 0 2
NR4A2 0 1 1 0 0 2
POLRMT 0 0 2 0 0 2
RNF216 0 0 2 0 0 2
RYR1 0 1 1 0 0 2
SCN1A, SCN9A 0 0 2 0 0 2
SLC25A26 0 0 2 0 0 2
TGM1 1 1 0 0 0 2
USH2A 1 1 0 0 0 2
ABL1 0 0 1 0 0 1
ADNP 0 1 0 0 0 1
AHDC1 1 0 0 0 0 1
AIFM1, RAB33A 0 0 1 0 0 1
AP1G1 0 1 0 0 0 1
AP1S2 0 1 0 0 0 1
APC 0 1 0 0 0 1
APP 0 1 0 0 0 1
ARID1B 0 1 0 0 0 1
ARMC9, LOC122861306 0 0 0 1 0 1
ASH1L 0 1 0 0 0 1
ASXL2 0 1 0 0 0 1
ASXL3 0 0 1 0 0 1
ATRX 0 1 0 0 0 1
AUTS2 1 0 0 0 0 1
AVPR2 0 1 0 0 0 1
BAP1 0 1 0 0 0 1
BCORL1 0 0 1 0 0 1
BPTF 1 0 0 0 0 1
BRAF 0 0 1 0 0 1
BRPF1 0 0 1 0 0 1
BSN 0 0 1 0 0 1
BUB1 0 0 1 0 0 1
C2orf69 1 0 0 0 0 1
CACNA1E 0 0 1 0 0 1
CACNA1F 0 0 1 0 0 1
CACNA1G 0 0 1 0 0 1
CAMK2A 0 1 0 0 0 1
CAPN3, LOC126862115 0 0 1 0 0 1
CBL 0 0 1 0 0 1
CDK8 0 1 0 0 0 1
CIC 0 1 0 0 0 1
CNGB1 1 0 0 0 0 1
CNGB1, LOC130059126 0 0 1 0 0 1
CNOT1 0 0 1 0 0 1
CNOT3 1 0 0 0 0 1
COL11A1 0 0 1 0 0 1
COL1A1 0 1 0 0 0 1
COL1A2 0 0 1 0 0 1
COL2A1 0 1 0 0 0 1
COL4A1 0 1 0 0 0 1
COL4A4 0 0 1 0 0 1
COL6A1 0 1 0 0 0 1
CRB1 0 0 1 0 0 1
DEAF1 0 0 1 0 0 1
DLG4 0 1 0 0 0 1
DMD 1 0 0 0 0 1
DNM2 0 0 1 0 0 1
DSP 0 1 0 0 0 1
DYRK1A 1 0 0 0 0 1
EDC3 1 0 0 0 0 1
EEF2 0 1 0 0 0 1
ELN 1 0 0 0 0 1
EMC10 1 0 0 0 0 1
ETV6 0 1 0 0 0 1
FAT2, SLC36A1 0 0 1 0 0 1
FBN1 0 0 1 0 0 1
FLCN 0 1 0 0 0 1
FLNA 1 0 0 0 0 1
FLNB 0 1 0 0 0 1
FMR1 0 0 1 0 0 1
FOXP1 0 1 0 0 0 1
GABBR2 0 1 0 0 0 1
GATAD2B 1 0 0 0 0 1
GFI1B 0 0 1 0 0 1
GLI3 0 1 0 0 0 1
GM2A 0 1 0 0 0 1
GNB4 0 0 1 0 0 1
GNPTAB 1 0 0 0 0 1
GRIN1 0 1 0 0 0 1
GRIN2A 0 1 0 0 0 1
GUSB 0 1 0 0 0 1
H3-3A 0 1 0 0 0 1
HGSNAT 1 0 0 0 0 1
HMGA2 0 0 1 0 0 1
HNF1B 0 0 1 0 0 1
HNRNPA2B1 0 0 1 0 0 1
IFT172, LOC126806174 0 0 1 0 0 1
IGF1R 0 1 0 0 0 1
IHH 0 1 0 0 0 1
IL1RAPL1 0 1 0 0 0 1
IMPG2 0 0 1 0 0 1
INSL6, JAK2 0 0 1 0 0 1
JAG1 0 1 0 0 0 1
JARID2 1 0 0 0 0 1
KCNK18 0 0 1 0 0 1
KDM5C 0 1 0 0 0 1
KIF1B 0 0 1 0 0 1
KMT2A 0 1 0 0 0 1
KMT2C 1 0 0 0 0 1
KMT2D 0 1 0 0 0 1
KRT3 0 0 1 0 0 1
L1CAM 0 1 0 0 0 1
LARP7, MIR302CHG 0 1 0 0 0 1
LCAT 0 1 0 0 0 1
LEMD3 1 0 0 0 0 1
LHCGR, STON1-GTF2A1L 0 1 0 0 0 1
LMNA 0 0 1 0 0 1
LOC106780803, TNXB 0 0 1 0 0 1
LOC110121445, LOC111365175, LOC111413023, LOC111982875, LOC121815951, LOC121815952, LOC124416852, LOC124416853, LOC126860974, LOC128462378, LOC128462379, LOC128462381, LOC128462388, LOC128462398, LOC130004157, LOC130004158, LOC130004159, LOC130004160, LOC130004161, LOC130004162, LOC130004163, LOC130004164, LOC130004165, LOC130004166, LOC130004167, LOC130004168, LOC130004169, LOC130004170, LOC130004171, LOC130004172, LOC130004173, LOC130004174, LOC130004175, LOC130004176, LOC130004177, LOC130004178, ZMIZ1 1 0 0 0 0 1
LOC126806420, TTN 0 0 1 0 0 1
LOC126859827, TAB2 1 0 0 0 0 1
LOC126860395, PLAG1 0 0 1 0 0 1
LOC126860498, WASHC5 0 0 1 0 0 1
LOC126860568, RIC1 0 0 1 0 0 1
LOC126860794, NOTCH1 1 0 0 0 0 1
LRSAM1 0 0 1 0 0 1
LYRM7 0 1 0 0 0 1
MACF1 0 1 0 0 0 1
MAP3K1 0 0 1 0 0 1
MAPK8IP3 0 0 1 0 0 1
MARS1 0 0 1 0 0 1
MED12L, P2RY12 0 1 0 0 0 1
MORC2 0 0 1 0 0 1
MSH2 0 0 1 0 0 1
MSN 0 0 1 0 0 1
MYH3 0 1 0 0 0 1
NALCN 0 1 0 0 0 1
NCKAP1 1 0 0 0 0 1
NEB 0 1 0 0 0 1
NEFL 1 0 0 0 0 1
NEXMIF 1 0 0 0 0 1
NF1 0 1 0 0 0 1
NOTCH3 0 1 0 0 0 1
NPHP1 0 0 1 0 0 1
NPHP4 0 0 1 0 0 1
NSD2 0 0 1 0 0 1
NT5C3A 0 1 0 0 0 1
OCRL 0 1 0 0 0 1
PAK3 0 1 0 0 0 1
PAX3 1 0 0 0 0 1
PCNT 1 0 0 0 0 1
PDE6B 0 1 0 0 0 1
PDX1 0 0 1 0 0 1
PHIP 0 1 0 0 0 1
PIK3CA 0 1 0 0 0 1
PLCG2 0 0 1 0 0 1
PLP1, RAB9B 0 1 0 0 0 1
PMS2 0 1 0 0 0 1
PNPLA6 0 0 1 0 0 1
POLR3B 1 0 0 0 0 1
PPP1R12A 1 0 0 0 0 1
PRKAR1B 0 0 1 0 0 1
PRPF8 0 0 1 0 0 1
PSMD12 0 0 1 0 0 1
PTEN 0 1 0 0 0 1
PURA 0 1 0 0 0 1
REEP1 0 0 1 0 0 1
REEP2 0 0 1 0 0 1
REN 0 0 1 0 0 1
RHO 0 1 0 0 0 1
RP1 0 0 1 0 0 1
RPGR 0 0 1 0 0 1
RPL13 1 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 1
SAMD9L 0 0 1 0 0 1
SDHA 0 1 0 0 0 1
SDHB 0 0 1 0 0 1
SETX 0 1 0 0 0 1
SH3PXD2B 0 0 1 0 0 1
SH3TC2 0 0 1 0 0 1
SHANK3 1 0 0 0 0 1
SLC2A1 1 0 0 0 0 1
SLC45A1 0 0 1 0 0 1
SLC6A1 1 0 0 0 0 1
SLC6A8 0 0 1 0 0 1
SMARCA2 0 1 0 0 0 1
SMC3 0 0 1 0 0 1
SMN1 0 1 0 0 0 1
SPAST 0 1 0 0 0 1
SPEN 1 0 0 0 0 1
SPRED1 1 0 0 0 0 1
SPTBN4 0 0 1 0 0 1
SRRM2 0 0 1 0 0 1
STAT1 0 1 0 0 0 1
STIM1 0 0 0 0 1 1
SYNGAP1 1 0 0 0 0 1
TACO1 1 0 0 0 0 1
TAOK1 1 0 0 0 0 1
TGFB3 0 0 1 0 0 1
TNFRSF1A 0 1 0 0 0 1
TNNC1 0 0 1 0 0 1
TNRC6B 0 1 0 0 0 1
TRIO 0 1 0 0 0 1
TRPV4 0 0 1 0 0 1
TSC2 0 0 1 0 0 1
UFSP2 1 0 0 0 0 1
VPS13B 0 1 0 0 0 1
WARS1 0 0 1 0 0 1
WT1 0 1 0 0 0 1
YY1 0 1 0 0 0 1
ZNF292 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 237
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign not provided total
Polycystic kidney disease, adult type 1 4 5 0 0 10
Microcephaly 4 0 1 0 0 5
Polycystic kidney disease 4 0 0 4 0 0 4
Charlevoix-Saguenay spastic ataxia 0 1 2 0 0 3
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 3 0 0 0 3
Polycystic kidney disease 2 1 1 1 0 0 3
Rod-cone dystrophy 0 3 0 0 0 3
Acute intermittent porphyria 0 1 1 0 0 2
Amyotrophic lateral sclerosis, susceptibility to, 24 0 1 1 0 0 2
Autosomal recessive ataxia due to ubiquinone deficiency 0 0 2 0 0 2
Autosomal recessive congenital ichthyosis 1 1 1 0 0 0 2
Bronchiectasis 0 0 2 0 0 2
Cerebellar ataxia-hypogonadism syndrome 0 0 2 0 0 2
Charcot-Marie-Tooth Disease, axonal, type 2GG 0 0 2 0 0 2
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 1 0 0 2
Charcot-Marie-Tooth disease axonal type 2F 0 0 2 0 0 2
Charcot-Marie-Tooth disease axonal type 2T 0 1 1 0 0 2
Charcot-Marie-Tooth disease type 2A2 0 0 2 0 0 2
Combined oxidative phosphorylation deficiency 28 0 0 2 0 0 2
Combined oxidative phosphorylation deficiency 55 0 0 2 0 0 2
Ehlers-Danlos syndrome, classic type, 1 1 0 1 0 0 2
Hypertrophic cardiomyopathy 1 0 0 2 0 0 2
Hypoparathyroidism, deafness, renal disease syndrome 0 0 2 0 0 2
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 1 1 0 0 2
Maturity-onset diabetes of the young type 2 0 2 0 0 0 2
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 2 0 0 0 0 2
Neurodevelopmental disorder with hypotonia and brain abnormalities 0 1 1 0 0 2
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 1 0 0 0 2
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 2 0 0 0 2
Recurrent fever 0 0 2 0 0 2
Retinitis pigmentosa 45 1 0 1 0 0 2
Seizure 0 0 2 0 0 2
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 1 1 0 0 2
Usher syndrome type 2A 1 1 0 0 0 2
X-linked Alport syndrome 1 0 1 0 0 2
46,XY sex reversal 6 0 0 1 0 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 1 0 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 0 0 0 1
Abnormality of the eye 0 0 1 0 0 1
Alagille syndrome due to a JAG1 point mutation 0 1 0 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 1 0 0 0 1
Aortic valve disease 1 1 0 0 0 0 1
Ataxia-pancytopenia syndrome 0 0 1 0 0 1
Atelosteogenesis type III 0 1 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 0 0 1
Autistic behavior; Neurodevelopmental abnormality 1 0 0 0 0 1
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 0 1 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 69 0 1 0 0 0 1
Autosomal recessive distal spinal muscular atrophy 1 0 1 0 0 0 1
Becker muscular dystrophy 1 0 0 0 0 1
Bethlem myopathy 1A 0 1 0 0 0 1
Birt-Hogg-Dube syndrome 0 1 0 0 0 1
Blepharophimosis; Intellectual disability 0 1 0 0 0 1
Brachydactyly type A1A 0 1 0 0 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 1 0 1 0 0 0 1
CBL-related disorder 0 0 1 0 0 1
CLOVES syndrome 0 1 0 0 0 1
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 1 0 0 0 1
Central core myopathy 0 0 1 0 0 1
Cerebral amyloid angiopathy, APP-related; Alzheimer disease type 1 0 1 0 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 1 0 0 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2C 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2O 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2P 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2S 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2U 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2Z 0 0 1 0 0 1
Charcot-Marie-Tooth disease dominant intermediate B 0 0 1 0 0 1
Charcot-Marie-Tooth disease dominant intermediate F 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2A1 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2E 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4C 0 0 1 0 0 1
Coffin-Siris syndrome 1 0 1 0 0 0 1
Cohen syndrome 0 1 0 0 0 1
Colorectal cancer 0 0 1 0 0 1
Combined immunodeficiency due to moesin deficiency 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 53 1 0 0 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 0 0 0 1
Congenital heart defects and skeletal malformations syndrome 0 0 1 0 0 1
Congenital heart defects, multiple types, 2 1 0 0 0 0 1
Congenital hereditary endothelial dystrophy of cornea 0 0 1 0 0 1
Congenital multicore myopathy with external ophthalmoplegia 0 1 0 0 0 1
Congenital myotonia, autosomal dominant form 0 0 1 0 0 1
Congenital myotonia, autosomal recessive form 0 1 0 0 0 1
Cornelia de Lange syndrome 3 0 0 1 0 0 1
Creatine transporter deficiency 0 0 1 0 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 0 0 1
Dermatofibrosis lenticularis disseminata 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 59 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 69 0 0 1 0 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 1 0 0 0 0 1
Diabetes insipidus, nephrogenic, X-linked 0 1 0 0 0 1
Dilated cardiomyopathy 1S 0 1 0 0 0 1
Dilated cardiomyopathy 1Z 0 0 1 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 0 1 0 0 1
Encephalopathy due to GLUT1 deficiency 1 0 0 0 0 1
Episodic ataxia type 2 0 0 1 0 0 1
Episodic ataxia type 2; Migraine, familial hemiplegic, 1 0 0 1 0 0 1
Familial adenomatous polyposis 1 0 1 0 0 0 1
Familial idiopathic inflammatory myopathy 0 0 1 0 0 1
Familial juvenile hyperuricemic nephropathy type 2 0 0 1 0 0 1
Fragile X syndrome 0 0 1 0 0 1
Frank-Ter Haar syndrome 0 0 1 0 0 1
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3 0 1 0 0 0 1
Gabriele de Vries syndrome 0 1 0 0 0 1
Genitourinary and/or brain malformation syndrome 1 0 0 0 0 1
Global developmental delay with speech and behavioral abnormalities 0 1 0 0 0 1
Global developmental delay; 2-3 finger syndactyly 0 0 1 0 0 1
Global developmental delay; Delayed myelination; Hypotonia 0 0 1 0 0 1
Global developmental delay; Strabismus; Ventricular septal defect 0 0 1 0 0 1
Gorlin syndrome 0 1 0 0 0 1
Growth delay due to insulin-like growth factor I resistance 0 1 0 0 0 1
Hand polydactyly 0 1 0 0 0 1
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 0 1 0 0 0 1
Hereditary spastic paraplegia 0 1 0 0 0 1
Hereditary spastic paraplegia 31 0 0 1 0 0 1
Hereditary spastic paraplegia 39 0 0 1 0 0 1
Hereditary spastic paraplegia 3A 0 1 0 0 0 1
Hereditary spastic paraplegia 4 0 1 0 0 0 1
Hereditary spastic paraplegia 72 0 0 1 0 0 1
Hereditary spastic paraplegia 8 0 0 1 0 0 1
Heterotopia, periventricular, X-linked dominant 1 0 0 0 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 0 0 0 0 1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 0 0 1 0 0 1
Intellectual developmental disorder 62 0 1 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 0 1 0 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 1 0 0 0 1
Intellectual developmental disorder with neuropsychiatric features 0 0 1 0 0 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 0 0 0 0 1
Intellectual developmental disorder, autosomal dominant 64 1 0 0 0 0 1
Intellectual developmental disorder, autosomal dominant 72 0 0 1 0 0 1
Intellectual disability 0 0 1 0 0 1
Intellectual disability, X-linked 21 0 1 0 0 0 1
Intellectual disability, X-linked 30 0 1 0 0 0 1
Intellectual disability, autosomal dominant 45 0 1 0 0 0 1
Intellectual disability, autosomal dominant 5 1 0 0 0 0 1
Intellectual disability, autosomal dominant 52 0 1 0 0 0 1
Intellectual disability, autosomal dominant 53 0 1 0 0 0 1
Intellectual disability, autosomal dominant 8 0 1 0 0 0 1
Intellectual disability, autosomal recessive 50 1 0 0 0 0 1
Intellectual disability, mild 1 0 0 0 0 1
Intellectual disability-epilepsy-extrapyramidal syndrome 0 0 1 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 1 0 0 0 1
Joubert syndrome 30 0 0 0 1 0 1
Joubert syndrome with renal defect 0 0 1 0 0 1
Kabuki syndrome 1 0 1 0 0 0 1
Kleefstra syndrome 2 1 0 0 0 0 1
Kury-Isidor syndrome 0 1 0 0 0 1
Landau-Kleffner syndrome 0 1 0 0 0 1
Leber optic atrophy 0 0 1 0 0 1
Legius syndrome 1 0 0 0 0 1
Leydig cell agenesis 0 1 0 0 0 1
Lissencephaly 9 with complex brainstem malformation 0 1 0 0 0 1
Lowe syndrome 0 1 0 0 0 1
Lynch syndrome 1 0 0 1 0 0 1
Lynch syndrome 4 0 1 0 0 0 1
MASA syndrome 0 1 0 0 0 1
Macrocephaly-autism syndrome 0 1 0 0 0 1
Macular dystrophy 0 0 1 0 0 1
Marbach-Schaaf neurodevelopmental syndrome 0 0 1 0 0 1
Marfan syndrome 0 0 1 0 0 1
Maturity-onset diabetes of the young type 4 0 0 1 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 1 0 0 0 0 1
Microcephalic primordial dwarfism, Alazami type 0 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 0 0 1
Microscopic hematuria 0 0 1 0 0 1
Migraine, with or without aura, susceptibility to, 13 0 0 1 0 0 1
Mitochondrial complex 4 deficiency, nuclear type 8 1 0 0 0 0 1
Mitochondrial complex III deficiency nuclear type 8 0 1 0 0 0 1
Mucolipidosis type II 1 0 0 0 0 1
Mucopolysaccharidosis type 7 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-III-C 1 0 0 0 0 1
Myoclonic-atonic epilepsy 1 0 0 0 0 1
Nemaline myopathy 2 0 1 0 0 0 1
Nephronophthisis 4 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and variable seizures 1 0 0 0 0 1
Neurofibromatosis-Noonan syndrome 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, type 9 0 0 1 0 0 1
Nizon-Isidor syndrome 0 1 0 0 0 1
Norum disease 0 1 0 0 0 1
Osteogenesis imperfecta type I 0 1 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 0 0 1 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 1 0 0 0 1
Paragangliomas 4 0 0 1 0 0 1
Paragangliomas 5 0 1 0 0 0 1
Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2 0 1 0 0 0 1
Pettigrew syndrome 0 1 0 0 0 1
Phelan-McDermid syndrome 1 0 0 0 0 1
Platelet-type bleeding disorder 17 0 0 1 0 0 1
Precocious puberty; Overgrowth; Macrocephaly; Postaxial polydactyly 1 0 0 0 0 1
Primary erythromelalgia 0 0 1 0 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 0 1 0 0 1
Radio-Tartaglia syndrome 1 0 0 0 0 1
Renal cysts and diabetes syndrome 0 0 1 0 0 1
Retinitis pigmentosa 12 0 0 1 0 0 1
Retinitis pigmentosa 13 0 0 1 0 0 1
Retinitis pigmentosa 4 0 1 0 0 0 1
Retinitis pigmentosa 40 0 1 0 0 0 1
Rienhoff syndrome 0 0 1 0 0 1
Sensorineural hearing loss disorder 0 0 1 0 0 1
Severe X-linked mitochondrial encephalomyopathy 0 0 1 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 0 0 0 0 1
Shashi-Pena syndrome 0 1 0 0 0 1
Short stature 0 1 0 0 0 1
Short-rib thoracic dysplasia 10 with or without polydactyly 0 0 1 0 0 1
Shukla-Vernon syndrome 0 0 1 0 0 1
Silver-Russell syndrome 5 0 0 1 0 0 1
Silver-russell syndrome 4 0 0 1 0 0 1
Spinocerebellar ataxia 45 0 0 1 0 0 1
Spinocerebellar ataxia type 26 0 1 0 0 0 1
Spinocerebellar ataxia type 42 0 0 1 0 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 1 0 0 0 1
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, di rocco type 1 0 0 0 0 1
Stankiewicz-Isidor syndrome 0 0 1 0 0 1
Stormorken syndrome 0 0 0 0 1 1
Supravalvar aortic stenosis 1 0 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 0 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 0 1 0 0 0 1
Tay-Sachs disease, variant AB 0 1 0 0 0 1
Thrombocythemia 3 0 0 1 0 0 1
Thrombocytopenia 5 0 1 0 0 0 1
Tibial muscular dystrophy 0 0 1 0 0 1
Usmani-Riazuddin syndrome, autosomal dominant 0 1 0 0 0 1
Vissers-Bodmer syndrome 0 0 1 0 0 1
Vitelliform macular dystrophy 5 0 0 1 0 0 1
Waardenburg syndrome type 1 1 0 0 0 0 1
Waardenburg syndrome, IIa 2F 0 0 1 0 0 1
Werdnig-Hoffmann disease 0 1 0 0 0 1
Wiedemann-Steiner syndrome 0 1 0 0 0 1
Wilms tumor 1 0 1 0 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.