ClinVar Miner

Variants from Institute of Human Genetics, University Hospital of Duesseldorf

Location: Germany  Primary collection method: not provided
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
94 74 156 1 1 326

Gene and significance breakdown #

Total genes and gene combinations: 241
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CACNA1A 2 0 3 0 0 5
HSPG2 0 2 2 0 0 4
LDLR 3 1 0 0 0 4
ZMYND11 0 0 4 0 0 4
ADGRV1 0 0 3 0 0 3
AOPEP 2 1 0 0 0 3
ATM, C11orf65 3 0 0 0 0 3
CLPB 0 0 3 0 0 3
CPLANE1 0 2 1 0 0 3
EXT1 3 0 0 0 0 3
IFIH1 0 0 3 0 0 3
KAT6A 1 1 1 0 0 3
SON 0 2 1 0 0 3
SPAST 2 1 0 0 0 3
SPG7 3 0 0 0 0 3
TCOF1 1 2 0 0 0 3
TYR 0 3 0 0 0 3
VPS13B 0 0 3 0 0 3
AARS1 1 1 0 0 0 2
APC 0 1 1 0 0 2
ARHGAP31 0 0 2 0 0 2
ATP1A3 2 0 0 0 0 2
AUTS2 0 1 1 0 0 2
BRCA2 2 0 0 0 0 2
BRIP1 1 0 1 0 0 2
CACNA1G 0 0 2 0 0 2
CAMTA1 0 0 2 0 0 2
CHD7 0 0 2 0 0 2
CIC 0 0 2 0 0 2
CLCN1 2 0 0 0 0 2
EP300 1 1 0 0 0 2
FBN1 0 1 1 0 0 2
FREM1 0 0 2 0 0 2
GCH1 1 1 0 0 0 2
GJB2 2 0 0 0 0 2
KDM5B 0 1 1 0 0 2
KMT2A 1 0 1 0 0 2
KMT2E 0 0 2 0 0 2
KMT5B 0 1 1 0 0 2
LDLR, MIR6886 2 0 0 0 0 2
NBN 1 0 1 0 0 2
NEFL 0 0 2 0 0 2
NKX2-1, SFTA3 2 0 0 0 0 2
PAX6 1 1 0 0 0 2
PCLO 0 0 2 0 0 2
POLR2A 0 0 2 0 0 2
PRKN 1 0 1 0 0 2
PRNP 0 1 0 0 1 2
QRICH1 1 1 0 0 0 2
SACS 2 0 0 0 0 2
SDHB 1 1 0 0 0 2
SRCAP 0 0 2 0 0 2
STUB1 2 0 0 0 0 2
TET3 0 0 2 0 0 2
TRAPPC9 0 1 1 0 0 2
TWIST1 0 0 2 0 0 2
UBE3B 0 2 0 0 0 2
VPS13A 2 0 0 0 0 2
VPS16 0 1 1 0 0 2
WNT10A 2 0 0 0 0 2
XPR1 0 0 2 0 0 2
ZNF469 0 1 0 1 0 2
ABCC9 1 0 0 0 0 1
ACTA2 0 0 1 0 0 1
ADAT3, SCAMP4 1 0 0 0 0 1
ADNP 0 0 1 0 0 1
AHDC1 0 0 1 0 0 1
AIFM1, RAB33A 0 0 1 0 0 1
ALG11, UTP14C 0 0 1 0 0 1
ANKRD11 0 0 1 0 0 1
APOB 0 1 0 0 0 1
ARID1B 1 0 0 0 0 1
ARID1B, LOC115308161, LOC129997522 0 0 1 0 0 1
ARSA 1 0 0 0 0 1
ASXL1 0 0 1 0 0 1
ASXL3 0 0 1 0 0 1
ATM 0 1 0 0 0 1
ATP1A2 0 0 1 0 0 1
ATP2A1 1 0 0 0 0 1
ATP2B1 0 0 1 0 0 1
ATRX 0 1 0 0 0 1
BICD2 1 0 0 0 0 1
BPTF 0 0 1 0 0 1
BRCA1 1 0 0 0 0 1
CC2D2A 1 0 0 0 0 1
CDH15 0 0 1 0 0 1
CDKL5 1 0 0 0 0 1
CDKN2A 0 1 0 0 0 1
CERT1 0 0 1 0 0 1
CFTR 1 0 0 0 0 1
CHD1 0 0 1 0 0 1
CHEK2 1 0 0 0 0 1
CHRNA7 0 0 1 0 0 1
CISD3, PCGF2 0 0 1 0 0 1
CNOT1 0 0 1 0 0 1
COL11A2 0 0 1 0 0 1
COL17A1 0 1 0 0 0 1
COL1A2 0 1 0 0 0 1
COL2A1 0 1 0 0 0 1
COL5A2 0 1 0 0 0 1
CPSF1 0 0 1 0 0 1
CREBBP 0 0 1 0 0 1
CSNK2A1 1 0 0 0 0 1
CTNS 0 1 0 0 0 1
CYB5R3 0 1 0 0 0 1
CYP7B1 0 0 1 0 0 1
DCX 1 0 0 0 0 1
DDX3X 1 0 0 0 0 1
DEPDC5 1 0 0 0 0 1
DHCR7 1 0 0 0 0 1
DHX30 0 1 0 0 0 1
DNA2 0 0 1 0 0 1
DNAJC30, LOC129998603 1 0 0 0 0 1
DNMT1 0 0 1 0 0 1
EDNRB 0 0 1 0 0 1
EFNB1 0 1 0 0 0 1
EIF3F 1 0 0 0 0 1
ERCC2 0 0 1 0 0 1
ESS2 0 0 1 0 0 1
EVC2 0 1 0 0 0 1
EXOSC3 1 0 0 0 0 1
EXT2 1 0 0 0 0 1
FAH 1 0 0 0 0 1
FBXO11 0 0 1 0 0 1
FBXO28, LOC129932579 0 0 1 0 0 1
FGF9 0 1 0 0 0 1
FOXP1 1 0 0 0 0 1
GATA4 0 1 0 0 0 1
GJB1 0 1 0 0 0 1
GJC2 0 1 0 0 0 1
GLI2 0 0 1 0 0 1
GLUD1 0 0 1 0 0 1
GNS 0 1 0 0 0 1
GPC6 0 0 1 0 0 1
GRHL3 0 0 1 0 0 1
GRIA1 0 0 1 0 0 1
GRIA4 0 0 1 0 0 1
GRIN2A 1 0 0 0 0 1
GRIN2D 0 0 1 0 0 1
GRN 1 0 0 0 0 1
HABP2 0 0 1 0 0 1
HCN2 0 0 1 0 0 1
HNRNPK 0 0 1 0 0 1
HSPB1 1 0 0 0 0 1
KCNB1 1 0 0 0 0 1
KCNC1 0 0 1 0 0 1
KCNC3 1 0 0 0 0 1
KCND3 0 0 1 0 0 1
KCNMA1 0 0 1 0 0 1
KCNQ2 0 0 1 0 0 1
KDM3B 0 1 0 0 0 1
KIF1A, LOC126806583 0 1 0 0 0 1
KIF5A 1 0 0 0 0 1
KMT2B 0 0 1 0 0 1
KMT2C 0 0 1 0 0 1
L1CAM 0 1 0 0 0 1
LIX1L, LOC126805851, RBM8A 0 1 0 0 0 1
LMBRD2 0 1 0 0 0 1
LMX1B 0 0 1 0 0 1
LRRK2 0 1 0 0 0 1
MADD 0 0 1 0 0 1
MAGEL2 0 0 1 0 0 1
MAN2C1 0 0 1 0 0 1
MBD5 0 0 1 0 0 1
MC1R 0 0 1 0 0 1
MECP2 1 0 0 0 0 1
MED12 0 0 1 0 0 1
MED12L 0 1 0 0 0 1
MED13L 0 0 1 0 0 1
MEFV 1 0 0 0 0 1
MIA3 0 0 1 0 0 1
MKS1 1 0 0 0 0 1
MPZ 0 1 0 0 0 1
MRE11 0 1 0 0 0 1
MT-ATP6 1 0 0 0 0 1
MTOR 1 0 0 0 0 1
MVP-DT, PRRT2 1 0 0 0 0 1
MYO7A 0 0 1 0 0 1
MYT1L 0 0 1 0 0 1
NDUFA13 0 0 1 0 0 1
NEB, RIF1 0 1 0 0 0 1
NF1 0 0 1 0 0 1
NFIA 1 0 0 0 0 1
NR2F2 0 1 0 0 0 1
OBI1, POU4F1 0 0 1 0 0 1
OFD1 0 1 0 0 0 1
OPN1LW 0 0 1 0 0 1
PALB2 0 0 1 0 0 1
PCGF2 1 0 0 0 0 1
PDHA1 1 0 0 0 0 1
PHF8 0 1 0 0 0 1
PHIP 0 0 1 0 0 1
PIEZO1 0 1 0 0 0 1
PIGB 0 0 1 0 0 1
PIGT 0 0 1 0 0 1
POLG 0 1 0 0 0 1
POLR3B 0 1 0 0 0 1
PRKCG 0 0 1 0 0 1
PROP1 1 0 0 0 0 1
PURA 0 1 0 0 0 1
RAD50 0 0 1 0 0 1
RELN 0 0 1 0 0 1
RNF216 0 0 1 0 0 1
SAMD9L 0 0 1 0 0 1
SATB2 0 0 1 0 0 1
SCN2A 0 1 0 0 0 1
SCN3A 0 0 1 0 0 1
SCN8A 0 0 1 0 0 1
SDHA 0 0 1 0 0 1
SDHC 1 0 0 0 0 1
SETD5 1 0 0 0 0 1
SH3TC2 0 1 0 0 0 1
SHANK3 0 1 0 0 0 1
SLC12A5 0 0 1 0 0 1
SLC33A1 0 0 1 0 0 1
SLC39A14 0 0 1 0 0 1
SLC3A1 1 0 0 0 0 1
SLC9A7 0 0 1 0 0 1
SMARCC2 0 1 0 0 0 1
SOX4 0 0 1 0 0 1
SPEN 0 0 1 0 0 1
SPG11 1 0 0 0 0 1
SPRED1 0 0 1 0 0 1
SYT1 0 0 1 0 0 1
TAF2 0 0 1 0 0 1
TBC1D24 0 0 1 0 0 1
TGFBR2 0 0 1 0 0 1
THAP1 1 0 0 0 0 1
THTPA, ZFHX2 0 0 1 0 0 1
TINF2 0 0 1 0 0 1
TLK2 0 1 0 0 0 1
TMEM240 0 0 1 0 0 1
TNNT3 0 1 0 0 0 1
TNRC6B 0 0 1 0 0 1
TSC1 0 0 1 0 0 1
TSC2 0 0 1 0 0 1
TUBB4A 0 1 0 0 0 1
WDR11 0 0 1 0 0 1
WNT5A 0 0 1 0 0 1
ZEB2 1 0 0 0 0 1
ZMIZ1 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 241
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hypercholesterolemia, familial, 1 5 1 0 0 0 6
Coffin-Siris syndrome 1 1 1 2 0 0 4
Intellectual disability, autosomal dominant 1 0 0 4 0 0 4
Schwartz-Jampel syndrome type 1 0 2 2 0 0 4
not provided 0 1 3 0 0 4
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 1 1 0 0 3
Basal ganglia calcification, idiopathic, childhood-onset 0 0 3 0 0 3
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 3 0 0 3
Cohen syndrome 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 42 0 0 3 0 0 3
Dystonia 31 2 1 0 0 0 3
Exostoses, multiple, type 1 3 0 0 0 0 3
Familial cancer of breast 2 0 1 0 0 3
Febrile seizures, familial, 4 0 0 3 0 0 3
Hereditary spastic paraplegia 4 2 1 0 0 0 3
Hereditary spastic paraplegia 7 3 0 0 0 0 3
Intellectual disability, autosomal dominant 30 0 0 3 0 0 3
Joubert syndrome 1 1 2 0 0 0 3
Oculocutaneous albinism type 1B 0 3 0 0 0 3
Pheochromocytoma/paraganglioma syndrome 4 1 1 1 0 0 3
Treacher Collins syndrome 1 1 2 0 0 0 3
ZTTK syndrome 0 2 1 0 0 3
3-methylglutaconic aciduria, type VIIB 0 0 2 0 0 2
Adams-Oliver syndrome 1 0 0 2 0 0 2
Ataxia-telangiectasia syndrome 1 1 0 0 0 2
Autism spectrum disorder due to AUTS2 deficiency 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 104 2 0 0 0 0 2
Autosomal recessive spinocerebellar ataxia 16 2 0 0 0 0 2
BNAR syndrome 0 0 2 0 0 2
Basal ganglia calcification, idiopathic, 6 0 0 2 0 0 2
Beck-Fahrner syndrome 0 0 2 0 0 2
Benign hereditary chorea 2 0 0 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 1 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 2 2 0 0 0 0 2
Brittle cornea syndrome 1 0 1 0 1 0 2
CHARGE syndrome 0 0 2 0 0 2
Charcot-Marie-Tooth disease axonal type 2N 1 1 0 0 0 2
Charcot-Marie-Tooth disease type 2E 0 0 2 0 0 2
Charlevoix-Saguenay spastic ataxia 2 0 0 0 0 2
Congenital myotonia, autosomal recessive form 2 0 0 0 0 2
Dystonia 30 0 1 1 0 0 2
Dystonia 5 1 1 0 0 0 2
Episodic ataxia type 2 2 0 0 0 0 2
Fatal familial insomnia 0 1 0 0 1 2
Intellectual disability, autosomal dominant 51 0 1 1 0 0 2
Intellectual disability, autosomal recessive 13 0 1 1 0 0 2
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 2 0 0 2
O'Donnell-Luria-Rodan syndrome 0 0 2 0 0 2
Oculocerebrofacial syndrome, Kaufman type 0 2 0 0 0 2
Odonto-onycho-dermal dysplasia 2 0 0 0 0 2
Parkinson disease 12 1 0 1 0 0 2
Pontocerebellar hypoplasia type 3 0 0 2 0 0 2
Saethre-Chotzen syndrome 0 0 2 0 0 2
Spinocerebellar ataxia type 42 0 0 2 0 0 2
Turnpenny-fry syndrome 1 0 1 0 0 2
VPS13A-related neurodegenerative disease 2 0 0 0 0 2
Ververi-Brady syndrome 1 1 0 0 0 2
Wiedemann-Steiner syndrome 1 0 1 0 0 2
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 0 1 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 0 1 0 0 1
ALG11-congenital disorder of glycosylation 0 0 1 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 1 0 0 0 1
Amelogenesis imperfecta - hypoplastic autosomal dominant - local 0 1 0 0 0 1
Aniridia 1 1 0 0 0 0 1
Arthrogryposis multiplex congenita 6 0 1 0 0 0 1
Arthrogryposis, distal, type 2B2 0 1 0 0 0 1
Ataxia-telangiectasia-like disorder 1 0 1 0 0 0 1
Atrial septal defect 2 0 1 0 0 0 1
Au-Kline syndrome 0 0 1 0 0 1
Autosomal dominant Parkinson disease 8 0 1 0 0 0 1
Autosomal dominant Robinow syndrome 1 0 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 33 0 0 1 0 0 1
Autosomal recessive omodysplasia 0 0 1 0 0 1
Blepharophimosis - intellectual disability syndrome, MKB type 0 0 1 0 0 1
Bohring-Opitz syndrome 0 0 1 0 0 1
Brain malformations with or without urinary tract defects 1 0 0 0 0 1
Brody myopathy 1 0 0 0 0 1
Bronchiectasis with or without elevated sweat chloride 1 1 0 0 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 1 0 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 1 0 0 0 0 1
Cerebellar ataxia-hypogonadism syndrome 0 0 1 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2F 1 0 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate D 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 2I 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4C 0 1 0 0 0 1
Charcot-Marie-Tooth disease, demyelinating, IIA 1I 0 1 0 0 0 1
Chromosome 15q13.3 microdeletion syndrome 0 0 1 0 0 1
Chromosome 2q32-q33 deletion syndrome 0 0 1 0 0 1
Colorectal cancer 1 0 0 0 0 1
Cone monochromatism 0 0 1 0 0 1
Congenital disorder of deglycosylation 2 0 0 1 0 0 1
Congenital heart defects, multiple types, 4 0 1 0 0 0 1
Craniofrontonasal syndrome 0 1 0 0 0 1
Curry-Hall syndrome 0 1 0 0 0 1
Cystinuria 1 0 0 0 0 1
Deeah syndrome 0 0 1 0 0 1
Deficiency of cytochrome-b5 reductase 0 1 0 0 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 1 0 0 0 1
Developmental and epileptic encephalopathy 100 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 12 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 2 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 26 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 46 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 62 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 7 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 80 0 0 1 0 0 1
Developmental delay with variable neurologic and brain abnormalities 0 1 0 0 0 1
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 0 1 0 0 1
Diets-Jongmans syndrome 0 1 0 0 0 1
Dystonia 12 1 0 0 0 0 1
Ehlers-Danlos syndrome, arthrochalasia type, 2 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type, 2 0 1 0 0 0 1
Epilepsy, familial focal, with variable foci 1 1 0 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 14 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 17 0 0 1 0 0 1
Episodic kinesigenic dyskinesia 1 1 0 0 0 0 1
Exostoses, multiple, type 2 1 0 0 0 0 1
Familial Mediterranean fever 1 0 0 0 0 1
Familial adenomatous polyposis 1 0 1 0 0 0 1
Familial pancreatic carcinoma 0 1 0 0 0 1
Familial prostate cancer 1 0 0 0 0 1
Familial temporal lobe epilepsy 7 0 0 1 0 0 1
Fanconi anemia complementation group D2 1 0 0 0 0 1
Floating-Harbor syndrome 0 0 1 0 0 1
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 1 0 0 0 0 1
Generalized epilepsy-paroxysmal dyskinesia syndrome 0 0 1 0 0 1
Global developmental delay with speech and behavioral abnormalities 0 0 1 0 0 1
Hereditary sensory neuropathy-deafness-dementia syndrome 0 0 1 0 0 1
Hereditary spastic paraplegia 10 1 0 0 0 0 1
Hereditary spastic paraplegia 11 1 0 0 0 0 1
Hereditary spastic paraplegia 42 0 0 1 0 0 1
Hereditary spastic paraplegia 5A 0 0 1 0 0 1
Hypercholesterolemia, autosomal dominant, type B 0 1 0 0 0 1
Hyperinsulinism-hyperammonemia syndrome 0 0 1 0 0 1
Hyperostosis cranialis interna 0 0 1 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 1 0 0 0 0 1
Hypogonadotropic hypogonadism 14 with or without anosmia 0 0 1 0 0 1
Hypomyelinating leukodystrophy 2 0 1 0 0 0 1
Hypomyelinating leukodystrophy 6 0 1 0 0 0 1
Indifference to pain, congenital, autosomal dominant 0 0 1 0 0 1
Infantile convulsions and choreoathetosis 1 0 0 0 0 1
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 0 1 0 0 1
Intellectual developmental disorder, X-linked 108 0 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 66 0 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 67 0 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 68 0 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 67 1 0 0 0 0 1
Intellectual disability, X-linked 102 1 0 0 0 0 1
Intellectual disability, autosomal dominant 34 0 0 1 0 0 1
Intellectual disability, autosomal dominant 39 0 0 1 0 0 1
Intellectual disability, autosomal dominant 45 0 0 1 0 0 1
Intellectual disability, autosomal dominant 57 0 1 0 0 0 1
Intellectual disability, autosomal dominant 9 0 1 0 0 0 1
Intellectual disability, autosomal recessive 65 0 0 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 0 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 0 0 1
Intellectual disability-strabismus syndrome 1 0 0 0 0 1
Isolated optic nerve hypoplasia 0 1 0 0 0 1
KBG syndrome 0 0 1 0 0 1
Kleefstra syndrome 2 0 0 1 0 0 1
Landau-Kleffner syndrome 1 0 0 0 0 1
Leber optic atrophy, susceptibility to 1 0 0 0 0 1
Legius syndrome 0 0 1 0 0 1
Leigh syndrome 1 0 0 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 0 0 1
Loeys-Dietz syndrome 1 0 0 1 0 0 1
MASA syndrome 0 1 0 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 0 0 0 0 1
Marfan syndrome 0 1 0 0 0 1
Meckel syndrome, type 1 1 0 0 0 0 1
Menke-Hennekam syndrome 1 0 0 1 0 0 1
Metachromatic leukodystrophy 1 0 0 0 0 1
Microcephaly, normal intelligence and immunodeficiency 0 0 1 0 0 1
Microcephaly-thin corpus callosum-intellectual disability syndrome 0 0 1 0 0 1
Migraine, familial hemiplegic, 2 0 0 1 0 0 1
Mitochondrial DNA deletion syndrome with progressive myopathy 0 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 28 0 0 1 0 0 1
Mowat-Wilson syndrome 1 0 0 0 0 1
Moyamoya disease 5 0 0 1 0 0 1
Mucopolysaccharidosis, MPS-III-D 0 1 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 0 1 0 0 1
Multiple synostoses syndrome 3 0 1 0 0 0 1
Myopia 27 0 0 1 0 0 1
Nail-patella syndrome 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 0 1 0 0 1
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with severe motor impairment and absent language 0 1 0 0 0 1
Neurofibromatosis, type 1 0 0 1 0 0 1
Neutropenia, severe congenital, 2, autosomal dominant 0 0 1 0 0 1
Nizon-Isidor syndrome 0 1 0 0 0 1
Ocular cystinosis 0 1 0 0 0 1
Odontochondrodysplasia 2 with hearing loss and diabetes 0 0 1 0 0 1
Okur-Chung neurodevelopmental syndrome 1 0 0 0 0 1
Orofaciodigital syndrome I 0 1 0 0 0 1
Orofaciodigital syndrome type 6 0 0 1 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 0 1 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 1 0 0 0 1
Phelan-McDermid syndrome 0 1 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 3 1 0 0 0 0 1
Pilarowski-Bjornsson syndrome 0 0 1 0 0 1
Pituitary hormone deficiency, combined, 2 1 0 0 0 0 1
Pontocerebellar hypoplasia type 1B 1 0 0 0 0 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 0 1 0 0 1
Progressive myoclonic epilepsy type 7 0 0 1 0 0 1
Progressive sclerosing poliodystrophy 0 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 0 1
Radial aplasia-thrombocytopenia syndrome 0 1 0 0 0 1
Radio-Tartaglia syndrome 0 0 1 0 0 1
Rett syndrome 1 0 0 0 0 1
Revesz syndrome 0 0 1 0 0 1
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 0 0 1 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 0 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 0 0 0 0 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 0 0 1 0 0 1
Schaaf-Yang syndrome 0 0 1 0 0 1
Seizures, benign familial infantile, 5 0 0 1 0 0 1
Severe X-linked mitochondrial encephalomyopathy 0 0 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 0 1 0 0 1
Smith-Lemli-Opitz syndrome 1 0 0 0 0 1
Spinocerebellar ataxia 49 0 0 1 0 0 1
Spinocerebellar ataxia type 13 1 0 0 0 0 1
Spinocerebellar ataxia type 14 0 0 1 0 0 1
Spinocerebellar ataxia type 19/22 0 0 1 0 0 1
Spinocerebellar ataxia type 21 0 0 1 0 0 1
Spondyloepimetaphyseal dysplasia, Strudwick type 0 1 0 0 0 1
Syndromic X-linked intellectual disability Siderius type 0 1 0 0 0 1
Thyroid cancer, nonmedullary, 5 0 0 1 0 0 1
Torsion dystonia 6 1 0 0 0 0 1
Tuberous sclerosis 1 0 0 1 0 0 1
Tuberous sclerosis 2 0 0 1 0 0 1
Tyrosinemia type I 1 0 0 0 0 1
Van der Woude syndrome 2 0 0 1 0 0 1
Vissers-Bodmer syndrome 0 0 1 0 0 1
Waardenburg syndrome type 4A 0 0 1 0 0 1
Weill-Marchesani syndrome 2, dominant 0 0 1 0 0 1
Xeroderma pigmentosum, group C 0 0 1 0 0 1

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