ClinVar Miner

Variants from GenomeConnect - Brain Gene Registry

Location: United States  Primary collection method: phenotyping only
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
0 0 0 0 0 622 622

Gene and significance breakdown #

Total genes and gene combinations: 341
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Gene or gene combination not provided total
CACNA1A 18 18
SLC6A1 17 17
SYNGAP1 13 13
PTEN 11 11
SETD5 11 11
DNMT3A 8 8
KDM5C 7 7
MYT1L 7 7
SCN2A 7 7
SPAST 7 7
TUBB3 7 7
ZBTB18 7 7
ARID1B 6 6
ASH1L 6 6
CTCF 6 6
KIF1A 6 6
DYNC1H1 5 5
HNRNPU 5 5
KMT2A 5 5
PPP2R1A 5 5
SZT2 5 5
DDX3X 4 4
DLG4 4 4
SETBP1 4 4
TBL1XR1 4 4
AFG2A 3 3
ARHGEF9 3 3
ASXL3 3 3
AUTS2 3 3
CACNA1H 3 3
CHAMP1 3 3
CHD4 3 3
CREBBP 3 3
CTSF 3 3
DEAF1 3 3
DMD 3 3
ELP2 3 3
FOXG1 3 3
GRIN2B 3 3
KAT6A 3 3
KNL1 3 3
MAGEL2 3 3
MBD5 3 3
MED13L 3 3
MED23 3 3
OPHN1 3 3
POLG, POLGARF 3 3
PTCH1 3 3
SYN1 3 3
TBC1D24 3 3
TBX1 3 3
UNC80 3 3
USP9X 3 3
WAC 3 3
​intergenic 2 2
AARS1 2 2
ADSL 2 2
AGRN 2 2
ANK3 2 2
ANKRD11 2 2
ATP1A2 2 2
B4GALNT4 2 2
CACNB4 2 2
CDK13 2 2
CHRNA2 2 2
COG7 2 2
COL1A2 2 2
CPLANE1 2 2
DEPDC5 2 2
DNHD1 2 2
DPPA2 2 2
DYRK1A 2 2
EIF2B5 2 2
F7 2 2
FMN2 2 2
FOXP1 2 2
GALC 2 2
GLDC 2 2
GRIN2A 2 2
HBA-LCR, NPRL3 2 2
HECW2 2 2
HEPACAM 2 2
HERC2 2 2
HIVEP2 2 2
KANSL1 2 2
KCNMA1 2 2
KCNQ1 2 2
KCNQ2 2 2
KDM5B 2 2
KMT2C 2 2
LIAS 2 2
LOC127814297, POU4F3 2 2
MAPK8IP3 2 2
MUC17 2 2
MYO18A 2 2
MYO7B 2 2
NCAPH2 2 2
NSD1 2 2
PAFAH1B1 2 2
PAK4 2 2
PDE4DIP 2 2
RAD54L2 2 2
RET 2 2
RYR3 2 2
SATB2 2 2
SETD2 2 2
SPG7 2 2
STAG1 2 2
TBC1D23 2 2
TRIP12 2 2
TSPAN7 2 2
TTN 2 2
URB1 2 2
VLDLR 2 2
WDFY3 2 2
ZMYND11 2 2
ZNF711 2 2
ABCA12 1 1
ABCA12, SNHG31 1 1
ACADVL 1 1
ACTB 1 1
ACVRL1 1 1
ADAR 1 1
ADCY3, ASXL2, CENPO, DNAJC27, DNMT3A, DTNB, EFR3B, GAREM2, HADHA, HADHB, KIF3C, NCOA1, POMC, PTRHD1, RAB10 1 1
ADCY3, CENPO, DNAJC27, DNMT3A, EFR3B, NCOA1, POMC, PTRHD1 1 1
ADNP 1 1
ADRA2B 1 1
AFF4 1 1
AIFM1, RAB33A 1 1
ALDH7A1 1 1
ALG1 1 1
ALMS1 1 1
AMER1 1 1
AMPD2 1 1
AMT 1 1
ANKHD1, ANKHD1-EIF4EBP3 1 1
ANKRD17 1 1
AP4E1 1 1
APOB 1 1
ARL14EP, BDNF, DCDC1, DNAJC24, ELP4, FSHB, IMMP1L, KCNA4, KIF18A, METTL15, MIR610, MPPED2 1 1
ATL1 1 1
ATM, C11orf65 1 1
ATP2B2 1 1
ATP6AP1, BRCC3, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, IKBKG, LAGE3, MPP1, MTCP1, PLXNA3, RAB39B, RPL10, SLC10A3, SMIM9, TAFAZZIN, TKTL1, TMLHE, UBL4A, VBP1 1 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, GDI1, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 1 1
ATR 1 1
ATRX 1 1
AVEN, RYR3 1 1
BDP1 1 1
BRCA1 1 1
CAMTA1, LOC126805603 1 1
CASR 1 1
CBS 1 1
CC2D1A 1 1
CCDC40 1 1
CCDC85C, CCNK 1 1
CCDC88C 1 1
CCDST, FLG 1 1
CDK5RAP2 1 1
CHD2 1 1
CHD8 1 1
CHD8, LOC126861888 1 1
CHRNA4 1 1
CHRNA4, LOC126863087 1 1
CHRNB2 1 1
CIT 1 1
CLCN1 1 1
CLN8 1 1
CNTN4 1 1
CNTNAP2 1 1
COL11A2 1 1
COL18A1 1 1
COL2A1 1 1
COL4A2 1 1
COQ6, ENTPD5 1 1
COQ8B 1 1
CSTB 1 1
CTNNB1, LOC126806659 1 1
CUL4B 1 1
CUX1 1 1
CYC1 1 1
DARS2 1 1
DHTKD1 1 1
DIAPH1 1 1
DLG4, LOC126862479 1 1
DNA2 1 1
DOCK4 1 1
DOCK4, ZNF277 1 1
DPYD 1 1
DSP 1 1
EEF1A2 1 1
ELP4, PAX6 1 1
ENG, LOC102723566 1 1
EP300 1 1
EPS8 1 1
FAAH2 1 1
FAT2, SLC36A1 1 1
FBXO31 1 1
FBXW11 1 1
FLG 1 1
FOXE3, LINC01389 1 1
FRRS1L 1 1
FTCD 1 1
FTO 1 1
GABRB3 1 1
GATAD2B 1 1
GATM 1 1
GBA1, LOC106627981 1 1
GCDH 1 1
GJB2 1 1
GLI3 1 1
GNAI1 1 1
GNAO1 1 1
GPR61 1 1
GRIA1 1 1
GRIA2 1 1
GRIA4 1 1
GRIK2 1 1
HBB, LOC106099062, LOC107133510 1 1
HCN1 1 1
HFE 1 1
HNRNPUL1, LOC126862911 1 1
IFIH1 1 1
IGLL1 1 1
ITPR1 1 1
JMJD1C 1 1
KCNK9 1 1
KIDINS220 1 1
KIF11 1 1
KIF4A 1 1
KMT2D 1 1
KRTAP1-3 1 1
KXD1 1 1
LAMA1 1 1
LAMB1 1 1
LAMC3 1 1
LOC125446265, LOC126863191, LOC130067893, LOC130067894, LOC130067895, LOC130067896, LOC130067897, LOC130067898, LOC130067899, LOC130067900, LOC130067901, LOC130067902, LOC130067903, LOC130067904, PRKX 1 1
LOC126861509, PRICKLE1 1 1
LOC130003574, WAC 1 1
LOC130003576, WAC 1 1
LOC130059156, TK2 1 1
MBD6 1 1
MCPH1 1 1
MECP2 1 1
MED12 1 1
MEPE 1 1
MMP9 1 1
MN1 1 1
MOCS1 1 1
MT-ATP6 1 1
MT-TC 1 1
MT-TL1 1 1
MT-TP 1 1
MVK 1 1
MYH7 1 1
MYO7A 1 1
MYO9A 1 1
NAALADL1 1 1
NCF4 1 1
NEGR1 1 1
NEXMIF 1 1
NF1 1 1
NFIX 1 1
NLGN3 1 1
NOTCH1 1 1
NPRL2 1 1
NPRL3 1 1
NRXN2 1 1
NT5C2 1 1
OGT 1 1
OTUD4 1 1
P2RX2 1 1
PAX6 1 1
PCDH19 1 1
PCDHB4, PCDHB@ 1 1
PDK1 1 1
PDS5A 1 1
PEX3 1 1
PGD 1 1
PIGG 1 1
PIK3CA 1 1
PIK3R5 1 1
PMM2 1 1
PNPO 1 1
POMT2 1 1
PQBP1 1 1
PRICKLE1 1 1
PROP1 1 1
PRR20A, PRR20B, PRR20C, PRR20D, PRR20E 1 1
PRSS12 1 1
PTPN11 1 1
RAI1 1 1
RBM10 1 1
RBMX 1 1
RELN 1 1
RNASEH1 1 1
SCN5A 1 1
SCN8A 1 1
SCP2 1 1
SET 1 1
SETD1B 1 1
SHANK3 1 1
SIN3A 1 1
SLC19A3 1 1
SLC2A1 1 1
SLC6A8 1 1
SLC9A1 1 1
SMARCA2 1 1
SMC1A 1 1
SMPD1 1 1
SNCB 1 1
SNX14 1 1
SNX27 1 1
SON 1 1
SPART 1 1
SPTAN1 1 1
ST3GAL5 1 1
STAG2 1 1
STIL 1 1
STXBP1 1 1
SYNE4 1 1
TECPR2 1 1
TGM1 1 1
TMLHE 1 1
TPP1 1 1
TRAPPC9 1 1
TRIO 1 1
TRIOBP 1 1
TRPM3 1 1
TRRAP 1 1
TUBB2A 1 1
TUBB2B 1 1
TUBB4A 1 1
VPS13A 1 1
VPS13D 1 1
WAS 1 1
WNT10A 1 1
ZDHHC9 1 1
ZEB2 1 1
ZIC2 1 1
ZMYND10 1 1

Condition and significance breakdown #

Total conditions: 342
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Condition not provided total
not provided 105 105
Myoclonic-astatic epilepsy 13 13
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 8 8
Hereditary spastic paraplegia 4 7 7
Intellectual disability, autosomal dominant 5 7 7
Syndromic X-linked intellectual disability Claes-Jensen type 7 7
Intellectual disability, autosomal dominant 39 6 6
Intellectual disability, autosomal dominant 52 6 6
Coffin-Siris syndrome 1 5 5
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1 5 5
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 5 5
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 5 5
Wiedemann-Steiner syndrome 5 5
Autism spectrum disorder; Tatton-Brown-Rahman overgrowth syndrome 4 4
Developmental and epileptic encephalopathy, 18 4 4
Intellectual developmental disorder 62 4 4
Intellectual disability 4 4
Intellectual disability, autosomal dominant 22 4 4
Neurodevelopmental disorder 4 4
Autism spectrum disorder 3 3
Autism spectrum disorder due to AUTS2 deficiency 3 3
Becker muscular dystrophy; Duchenne muscular dystrophy 3 3
HNRNPU-Related Disorder 3 3
Houge-Janssens syndrome 2 3 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 3 3
Intellectual disability, X-linked 102 3 3
Intellectual disability, autosomal dominant 40 3 3
Intellectual disability, autosomal recessive 18 3 3
Intellectual disability, autosomal recessive 58 3 3
Microcephaly 4, primary, autosomal recessive 3 3
Non-ketotic hyperglycinemia 3 3
Rett syndrome, congenital variant 3 3
SLC6A1-Related Disorder 3 3
SYNGAP1-Related Disorder 3 3
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 3 3
Tatton-Brown-Rahman overgrowth syndrome 3 3
ZBTB18-Related Disorder 3 3
Adenylosuccinate lyase deficiency 2 2
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2 2 2
Arrhythmogenic right ventricular dysplasia 8 2 2
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 2 2
Autosomal dominant nocturnal frontal lobe epilepsy 1 2 2
Autosomal dominant nocturnal frontal lobe epilepsy 4 2 2
Autosomal dominant nonsyndromic hearing loss 15 2 2
Autosomal recessive congenital ichthyosis 4A; Autosomal recessive congenital ichthyosis 4B 2 2
COG7 congenital disorder of glycosylation 2 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 2 2
Clark-Baraitser syndrome 2 2
Congenital factor VII deficiency 2 2
Congenital myasthenic syndrome 8 2 2
Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 2 2
DYRK1A-related intellectual disability syndrome 2 2
DeSanto-Shinawi syndrome due to WAC point mutation 2 2
DeSanto-Shinawi syndrome due to WAC point mutation; DeSanto-Shinawi syndrome 2 2
Dermatitis, atopic, 2; Ichthyosis vulgaris 2 2
Developmental and epileptic encephalopathy, 54 2 2
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2 2
Epilepsy, childhood absence, susceptibility to, 6 2 2
Epilepsy, familial focal, with variable foci 3 2 2
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; Complex cortical dysplasia with other brain malformations 1 2 2
GRIN2B-Related Disorder 2 2
HECW2-Related Disorder 2 2
Hereditary hemochromatosis 2 2
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C 2 2
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2 2
Hereditary spastic paraplegia 7 2 2
Intellectual disability, X-linked 97 2 2
Intellectual disability, X-linked 99; Intellectual disability, X-linked 99, syndromic, female-restricted 2 2
Intellectual disability, autosomal dominant 47 2 2
Intellectual disability, autosomal recessive 65 2 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 2 2
Joubert syndrome 17 2 2
KAT6A-related neurodevelopmental disorder with multiple anomalies 2 2
Koolen-de Vries syndrome 2 2
Landau-Kleffner syndrome 2 2
Lipoic acid synthetase deficiency 2 2
Lissencephaly due to LIS1 mutation 2 2
Long QT syndrome 2 2
Luscan-Lumish syndrome 2 2
MED13L-Related Disorder 2 2
Macrocephaly-autism syndrome; Cowden syndrome 1 2 2
Megalencephalic leukoencephalopathy with subcortical cysts 2 2
Myoclonic-atonic epilepsy 2 2
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 2 2
PTEN hamartoma tumor syndrome 2 2
Pontocerebellar hypoplasia, type 11 2 2
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 2 2
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2 2
SATB2 associated disorder 2 2
SPATA5-related neurodevelopmental disorder 2 2
Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 2 2
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 1; Autism spectrum disorder; SCN2A-related generalized epilepsy with febrile seizures plus; West syndrome; Myoclonic-astatic epilepsy; Non-syndromic intellectual disability; Lennox-Gastaut syndrome; Continuous spikes and waves during sleep 2 2
Sotos syndrome 2 2
X-linked intellectual disability-cerebellar hypoplasia syndrome 2 2
2-aminoadipic 2-oxoadipic aciduria 1 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 1
ADRA2B-Related Disorder 1 1
ALG1-congenital disorder of glycosylation 1 1
ARHGEF9-Related Disorder 1 1
ARHGEF9-related neurodevelopmental disorder 1 1
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Hypochondrogenesis; Spondyloepimetaphyseal dysplasia, Strudwick type 1 1
Adams-Oliver syndrome 5 1 1
Agammaglobulinemia 2, autosomal recessive 1 1
Alstrom syndrome 1 1
Aniridia 1 1 1
Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 1 1
Ataxia with oculomotor apraxia type 3 1 1
Ataxia-telangiectasia syndrome 1 1
Autism spectrum disorder; Intellectual disability 1 1
Autism; Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Macrocephaly 1 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O 1 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Spinal muscular atrophy with lower extremity predominance 1 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 1
Autosomal dominant nocturnal frontal lobe epilepsy 3 1 1
Autosomal dominant nocturnal frontal lobe epilepsy; Familial focal epilepsy with variable foci 1 1
Autosomal dominant nonsyndromic hearing loss 41 1 1
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 1 1
Autosomal recessive congenital ichthyosis 1 1 1
Autosomal recessive nonsyndromic hearing loss 102 1 1
Autosomal recessive nonsyndromic hearing loss 12; Hearing loss, autosomal dominant 82 1 1
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A 1 1
Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome 1 1
Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome 1 1 1
Baraitser-Winter syndrome 1 1 1
Benign familial neonatal-infantile seizures 1; Developmental and epileptic encephalopathy, 11; Intellectual disability 1 1
Benign familial neonatal-infantile seizures 1; Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; SCN2A-related generalized epilepsy with febrile seizures plus 1 1
Biotin-responsive basal ganglia disease 1 1
Birk-Barel syndrome 1 1
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME 1 1
CACNA1A-related disorder 1 1
CAMTA1-Related Disorder 1 1
CDK13-Related Disorder 1 1
CEBALID syndrome 1 1
CHD4-Related Disorder 1 1
COL11A2- Related Disorder 1 1
COL4A2-Related Disorder 1 1
CTCF-Related Disorder 1 1
CTNNB1-Related Disorder 1 1
CUL4B-Related Disorder 1 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 1
Charcot-Marie-Tooth disease X-linked recessive 4; Severe X-linked mitochondrial encephalomyopathy 1 1
Charcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29 1 1
Chopra-Amiel-Gordon syndrome 1 1
Chorea-acanthocytosis 1 1
Chromosome Xq28 duplication syndrome 1 1
Classic homocystinuria 1 1
Coffin-Siris syndrome 1 1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 1 1
Complex cortical dysplasia with other brain malformations 1 1 1
Complex cortical dysplasia with other brain malformations 5 1 1
Complex cortical dysplasia with other brain malformations 7 1 1
Complex neurodevelopmental disorder 1 1
Congenital aniridia 1 1
Congenital fibrosis of extraocular muscles type 1; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; Complex cortical dysplasia with other brain malformations 1; Congenital Fibrosis of the Extraocular Muscles 1B 1 1
Congenital fibrosis of extraocular muscles; Brain malformation 1 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 1
Congenital myotonia, autosomal recessive form 1 1
Cortical dysplasia-focal epilepsy syndrome 1 1
Cowden syndrome 1 1
Creatine transporter deficiency 1 1
DEAF1-Related Disorder 1 1
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome 1 1
DNMT3A-Related Disorder 1 1
DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65 1 1
DYNC1H1-Related Disorder 1 1
DeSanto-Shinawi syndrome 1 1
Developmental and epileptic encephalopathy, 1 1 1
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 1 1
Developmental and epileptic encephalopathy, 17; Neurodevelopmental disorder with involuntary movements 1 1
Developmental and epileptic encephalopathy, 24; Generalized epilepsy with febrile seizures plus, type 10 1 1
Developmental and epileptic encephalopathy, 37 1 1
Developmental and epileptic encephalopathy, 4 1 1
Developmental and epileptic encephalopathy, 5 1 1
Developmental and epileptic encephalopathy, 8 1 1
Developmental and epileptic encephalopathy, 9 1 1
Developmental delay with autism spectrum disorder and gait instability 1 1
Developmental delay with or without dysmorphic facies and autism; Hearing loss, autosomal dominant 75 1 1
Diabetes-deafness syndrome maternally transmitted; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Hypertrophic cardiomyopathy; Leigh Syndrome (mtDNA mutation) 1 1
Dihydropyrimidine dehydrogenase deficiency 1 1
Encephalopathy due to GLUT1 deficiency 1 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders; Intellectual disability, X-linked 50 1 1
Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43 1 1
Epilepsy, familial focal, with variable foci 1 1 1
Epilepsy, familial focal, with variable foci 2 1 1
Epilepsy, idiopathic generalized, susceptibility to, 9 1 1
Epilepsy, idiopathic generalized, susceptibility to, 9; Episodic ataxia type 5 1 1
Epilepsy, progressive myoclonic, 1B 1 1
Epilepsy; Microcephaly; Intellectual disability 1 1
Episodic ataxia type 2; Familial hemiplegic migraine; Developmental and epileptic encephalopathy, 42 1 1
Episodic ataxia type 2; Migraine, familial hemiplegic, 1 1 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Early Infantile Epileptic Encephalopathy, Autosomal Dominant 1 1
Epsilon-trimethyllysine hydroxylase deficiency 1 1
Exudative vitreoretinopathy 1; Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 1
Familial hypocalciuric hypercalcemia 1 1 1
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2 1 1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 1 1
GATAD2B-Related Neurodevelopmental Disorder 1 1
Gaucher disease perinatal lethal 1 1
Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome 1 1
Generalized epilepsy-paroxysmal dyskinesia syndrome; Epilepsy, idiopathic generalized, susceptibility to, 16 1 1
Glutamate formiminotransferase deficiency 1 1
Glutaric aciduria, type 1 1 1
Gorlin syndrome 1 1
Gorlin syndrome; Holoprosencephaly 7 1 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 1 1
Greig cephalopolysyndactyly syndrome 1 1
Hearing loss, autosomal recessive 112 1 1
Hereditary breast ovarian cancer syndrome 1 1
Hereditary spastic paraplegia 3A; Neuropathy, hereditary sensory, type 1D 1 1
Hereditary spastic paraplegia 45 1 1
Hereditary spastic paraplegia 49 1 1
Hereditary spastic paraplegia 51 1 1
Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 1 1
Holoprosencephaly 5 1 1
Hydrocephalus, nonsyndromic, autosomal recessive 1; Spinocerebellar ataxia type 40 1 1
Hypercholesterolemia, autosomal dominant, type B 1 1
Hypertrophic cardiomyopathy 1; Left ventricular noncompaction 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy; MYH7-Related Disorders 1 1
Idiopathic generalized epilepsy; Epilepsy, childhood absence, susceptibility to, 6 1 1
Intellectual developmental disorder with autism and macrocephaly 1 1
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 1 1
Intellectual developmental disorder with hypertelorism and distinctive facies 1 1
Intellectual developmental disorder with seizures and language delay 1 1
Intellectual disability, X-linked 106 1 1
Intellectual disability, X-linked 58 1 1
Intellectual disability, X-linked 99, syndromic, female-restricted 1 1
Intellectual disability, autosomal dominant 1 1 1
Intellectual disability, autosomal dominant 24; Intellectual disability-epilepsy-extrapyramidal syndrome 1 1
Intellectual disability, autosomal dominant 29 1 1
Intellectual disability, autosomal dominant 30 1 1
Intellectual disability, autosomal dominant 39; Chromosome 2p25.3 deletion syndrome 1 1
Intellectual disability, autosomal dominant 43 1 1
Intellectual disability, autosomal dominant 5; SYNGAP1-related developmental and epileptic encephalopathy 1 1
Intellectual disability, autosomal dominant 6; West syndrome; Lennox-Gastaut syndrome; GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder 1 1
Intellectual disability, autosomal recessive 1 1 1
Intellectual disability, autosomal recessive 13 1 1
Intellectual disability, autosomal recessive 3 1 1
Intellectual disability, autosomal recessive 45 1 1
Intellectual disability, autosomal recessive 47 1 1
Intellectual disability, autosomal recessive 53 1 1
KBG syndrome 1 1
KCNQ2-Related Disorders 1 1
KIF1A-related disorder 1 1
Kabuki syndrome 1 1 1
Kleefstra syndrome 2 1 1
Knobloch syndrome 1 1 1
Lethal polymalformative syndrome, Boissel type 1 1
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 1 1
Leukoencephalopathy with vanishing white matter 5 1 1
Lewy body dementia 1 1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; Familial medullary thyroid carcinoma; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 1 1
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome 1 1
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus-like syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome 1 1
Marshall-Smith syndrome; Malan overgrowth syndrome 1 1
Metaphyseal anadysplasia 2 1 1
Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 1 1
Microcephaly 1, primary, autosomal recessive 1 1
Microcephaly 17, primary, autosomal recessive 1 1
Microcephaly 18, primary, autosomal dominant 1 1
Microcephaly 3, primary, autosomal recessive 1 1
Microcephaly 7, primary, autosomal recessive 1 1
Migraine, familial hemiplegic, 1; Early Infantile Epileptic Encephalopathy, Autosomal Dominant 1 1
Mitochondrial DNA deletion syndrome with progressive myopathy 1 1
Mowat-Wilson syndrome 1 1
Mullegama-Klein-Martinez syndrome 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 1 1
NPRL3-Related Disorder 1 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 1 1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 1 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 1 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 1 1
Neurodevelopmental, jaw, eye, and digital syndrome 1 1
Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 1 1
Neuronal ceroid lipofuscinosis 13 1 1
Neuronal ceroid lipofuscinosis 2 1 1
Neuronal ceroid lipofuscinosis 8 1 1
Nicolaides-Baraitser syndrome 1 1
Niemann-Pick disease, type A 1 1
Non-syndromic X-linked intellectual disability 1 1
Non-syndromic intellectual disability 1 1
Noonan syndrome 1 1 1
OPHN1-related disorder 1 1
Odonto-onycho-dermal dysplasia; SchC6pf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4 1 1
Osteopathia striata with cranial sclerosis 1 1
PIK3CA-related overgrowth 1 1
PMM2-congenital disorder of glycosylation 1 1
POLG-related disorder 1 1
PPP2R1A-related disorder 1 1
PTCH1-Related Disorder 1 1
Peroxisome biogenesis disorder 10A (Zellweger) 1 1
Pierpont syndrome; Intellectual disability, autosomal dominant 41 1 1
Pituitary hormone deficiency, combined, 2 1 1
Prader-Willi syndrome; Prader-Willi-like syndrome 1 1
Primary ciliary dyskinesia 15 1 1
Primary ciliary dyskinesia 22 1 1
Pyridoxine-dependent epilepsy 1 1
Renpenning syndrome 1 1
Rett syndrome 1 1
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16 1 1
Rubinstein-Taybi syndrome due to CREBBP mutations 1 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 1
SCN2A-related disorder 1 1
SET-Related Disorder 1 1
SETD5-Related Disorder 1 1
SHANK3-Related Disorder 1 1
SIN3A-related intellectual disability syndrome due to a point mutation 1 1
SLC6A1-related neurodevelopmental disorder 1 1
SYNE4-related hearing loss 1 1
Schaaf-Yang syndrome 1 1
Schaaf-Yang syndrome; Prader-Willi-like syndrome 1 1
Schizophrenia; Autism spectrum disorder 1 1
Seckel syndrome 1 1 1
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9; Complex neurodevelopmental disorder 1 1
Seizures, benign familial infantile, 3; SCN2A-related generalized epilepsy with febrile seizures plus 1 1
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 1 1
Sifrim-Hitz-Weiss syndrome 1 1
Smith-Magenis syndrome; PMP22-RAI1 contiguous gene duplication syndrome; Deafness 1 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity; Ventriculomegaly and arthrogryposis 1 1
Spinocerebellar ataxia type 15/16; Gillespie syndrome 1 1
Sterol carrier protein 2 deficiency 1 1
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 1 1
Syndromic X-linked intellectual disability Raymond type 1 1
Syndromic X-linked intellectual disability Shashi type 1 1
Syndromic intellectual disability 1 1
Syndromic intellectual disability; Non-syndromic intellectual disability 1 1
TARP syndrome 1 1
TRIO-Related Disorder 1 1
TRIOBP-related hearing loss 1 1
TUBB3-Related Disorder 1 1
Tatton-Brown-Rahman overgrowth syndrome; Shashi-Pena syndrome 1 1
Telangiectasia, hereditary hemorrhagic, type 1 1 1
Telangiectasia, hereditary hemorrhagic, type 2 1 1
Torsion dystonia 4; Hypomyelinating leukodystrophy 6 1 1
Unverricht-Lundborg syndrome 1 1
Vanishing white matter disease; Ovarioleukodystrophy 1 1
Velocardiofacial syndrome; DiGeorge syndrome 1 1
WDFY3-related disorder 1 1
X-linked complex neurodevelopmental disorder 1 1
X-linked intellectual disability with marfanoid habitus; FG syndrome; MED12-related intellectual disability syndrome 1 1
X-linked intellectual disability, Cantagrel type 1 1
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 1 1
ZTTK syndrome 1 1
beta Thalassemia 1 1

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