ClinVar Miner

Variants from Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Location: Canada  Primary collection method: clinical testing
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
210 146 144 51 9 560

Gene and significance breakdown #

Total genes and gene combinations: 258
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SCN5A 2 6 25 9 3 45
NOTCH3 3 7 5 6 1 22
MEFV 0 0 15 5 0 20
GJB2 12 2 4 0 1 19
TTR 4 5 6 3 0 18
HBB, LOC106099062, LOC107133510 10 2 0 5 0 17
CFTR 0 2 10 3 1 16
TNFRSF1A 0 1 3 5 0 9
AR 1 5 1 1 0 8
ARID1B 7 1 0 0 0 8
EP300 2 4 0 0 0 6
MVK 2 1 0 3 0 6
SETD5 4 2 0 0 0 6
ANKRD11 4 1 0 0 0 5
HBB, LOC107133510, LOC110006319 1 2 0 2 0 5
KMT2D 4 1 0 0 0 5
LOC110121269, SCN5A 0 0 2 1 2 5
LOC126862264, MEFV 0 0 3 2 0 5
DDX3X 3 1 0 0 0 4
PTPN11 4 0 0 0 0 4
AHDC1 2 1 0 0 0 3
CDK13 1 1 1 0 0 3
CFTR, LOC111674472 0 1 2 0 0 3
CNKSR2 0 2 1 0 0 3
CTNNB1, LOC126806659 3 0 0 0 0 3
DNMT3A 0 2 1 0 0 3
KAT6B 2 0 1 0 0 3
MECP2 3 0 0 0 0 3
PIGG 1 2 0 0 0 3
PTEN 3 0 0 0 0 3
SRD5A2 0 1 1 1 0 3
SYNGAP1 0 3 0 0 0 3
ACTB 1 1 0 0 0 2
ADNP 1 1 0 0 0 2
ALMS1 2 0 0 0 0 2
ASH1L 2 0 0 0 0 2
AUTS2 2 0 0 0 0 2
BCOR 1 1 0 0 0 2
BRPF1 1 1 0 0 0 2
BTD 1 1 0 0 0 2
C1QTNF5, MFRP 0 2 0 0 0 2
CACNA1S 0 0 0 2 0 2
CCDST, FLG 1 1 0 0 0 2
CDK8 0 1 1 0 0 2
CFTR, LOC111674477 0 0 1 1 0 2
CHD8 0 1 1 0 0 2
COL11A1 0 2 0 0 0 2
CREBBP 1 1 0 0 0 2
CTNNB1 2 0 0 0 0 2
DMD 0 0 1 1 0 2
DYRK1A 1 1 0 0 0 2
EBF3 1 1 0 0 0 2
FGFR3 2 0 0 0 0 2
FOXP1 2 0 0 0 0 2
GH-LCR, SCN4A 1 1 0 0 0 2
GRIN1 1 1 0 0 0 2
HBA2, LOC106804612 0 0 2 0 0 2
HNRNPU 0 2 0 0 0 2
HPDL 0 2 0 0 0 2
KAT6A 1 1 0 0 0 2
KCNQ2 1 1 0 0 0 2
KDM5B 0 0 2 0 0 2
KIF1A 2 0 0 0 0 2
KMT2C 1 0 1 0 0 2
KRAS 1 0 1 0 0 2
LDLR 1 1 0 0 0 2
MED13L 1 0 1 0 0 2
METTL23 0 1 1 0 0 2
MT-TL1 1 1 0 0 0 2
NANS, TRIM14 0 1 1 0 0 2
NEDD4L 2 0 0 0 0 2
NR2F1 1 1 0 0 0 2
PHIP 1 1 0 0 0 2
PIK3CA 1 1 0 0 0 2
PQBP1 2 0 0 0 0 2
PYCR1 2 0 0 0 0 2
RAB23 1 0 1 0 0 2
RAI1 2 0 0 0 0 2
RPS6KA3 1 1 0 0 0 2
RYR1 0 2 0 0 0 2
SCN8A 0 2 0 0 0 2
SKIC3 1 1 0 0 0 2
SLC26A4 1 0 1 0 0 2
SPAST 2 0 0 0 0 2
SPECC1L, SPECC1L-ADORA2A 0 1 1 0 0 2
SPG7 2 0 0 0 0 2
STXBP1 2 0 0 0 0 2
TBCK 0 1 1 0 0 2
TBL1XR1 1 1 0 0 0 2
TCF4 2 0 0 0 0 2
TRIO 1 1 0 0 0 2
UBE2A 0 2 0 0 0 2
VPS13B 2 0 0 0 0 2
WDR26 1 1 0 0 0 2
WNT10A 2 0 0 0 0 2
WRN 1 0 0 0 1 2
ZFYVE26 0 1 1 0 0 2
ABCB7 0 1 0 0 0 1
ABCC9, KCNJ8 0 1 0 0 0 1
ACSF3 1 0 0 0 0 1
ADCY5 1 0 0 0 0 1
AGA 0 0 1 0 0 1
AHCY 0 1 0 0 0 1
ALPL 1 0 0 0 0 1
ANK3 0 0 1 0 0 1
ANO4 0 0 1 0 0 1
AP1G1 1 0 0 0 0 1
AP4B1 0 1 0 0 0 1
APOB 1 0 0 0 0 1
ARFGEF1 0 0 1 0 0 1
ASXL1 1 0 0 0 0 1
ASXL2 0 1 0 0 0 1
ATP1A1 0 0 1 0 0 1
ATP2B2 0 0 1 0 0 1
ATXN7L3, UBTF 0 0 1 0 0 1
BBS7 0 1 0 0 0 1
BCL11A 0 1 0 0 0 1
BCL11B 0 0 1 0 0 1
BPTF 1 0 0 0 0 1
BRAF 1 0 0 0 0 1
C12orf57 1 0 0 0 0 1
CAMK2A 0 0 1 0 0 1
CAPRIN1 0 1 0 0 0 1
CASK 1 0 0 0 0 1
CBL 1 0 0 0 0 1
CHAF1A 0 0 1 0 0 1
CHD2 0 1 0 0 0 1
CHD7 1 0 0 0 0 1
CHUK-DT, CWF19L1 0 0 1 0 0 1
CNOT1 0 0 1 0 0 1
COL11A2 0 0 1 0 0 1
COL2A1 0 1 0 0 0 1
CRELD1 0 1 0 0 0 1
CSDE1 0 0 1 0 0 1
CSNK2B 0 0 1 0 0 1
CTCF 1 0 0 0 0 1
CWF19L1 0 1 0 0 0 1
CYFIP2 0 0 1 0 0 1
DES 0 1 0 0 0 1
DLL1 1 0 0 0 0 1
DPAGT1 0 0 1 0 0 1
EDA 0 1 0 0 0 1
EHMT1 1 0 0 0 0 1
EMC10 0 1 0 0 0 1
FGF10 0 1 0 0 0 1
FLNB 1 0 0 0 0 1
FLT4 0 0 1 0 0 1
FOXG1 0 1 0 0 0 1
G6PD 1 0 0 0 0 1
GABRB3 0 1 0 0 0 1
GATAD2B 1 0 0 0 0 1
GCDH 0 1 0 0 0 1
GNAS 1 0 0 0 0 1
GNB1 1 0 0 0 0 1
GRIN2B 0 1 0 0 0 1
HDAC8 0 0 1 0 0 1
HNRNPH1, LOC128966623 0 0 1 0 0 1
HUWE1 0 1 0 0 0 1
IRF6 0 1 0 0 0 1
ITPR1, LOC126806590 1 0 0 0 0 1
JARID2 1 0 0 0 0 1
KCNA2 1 0 0 0 0 1
KCNB1 1 0 0 0 0 1
KCNC1 1 0 0 0 0 1
KCNQ1 1 0 0 0 0 1
KDM6A 1 0 0 0 0 1
KMT2A 1 0 0 0 0 1
KMT2B 0 0 1 0 0 1
KMT5B 1 0 0 0 0 1
LARP7, MIR302CHG 0 1 0 0 0 1
LINS1 0 1 0 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 1
LOC112939935, RPL9 0 1 0 0 0 1
LOC126807125, SLC39A8 0 0 1 0 0 1
LOC126860549, PUF60 0 1 0 0 0 1
LOC126862611, TLK2 1 0 0 0 0 1
LOC129935026, TBR1 0 1 0 0 0 1
LOC130060418, MYO15A 1 0 0 0 0 1
LRP2 1 0 0 0 0 1
MAGEL2 0 0 1 0 0 1
MAP2K1 1 0 0 0 0 1
MAP3K7 0 0 1 0 0 1
MCEE 1 0 0 0 0 1
MED13 0 0 0 1 0 1
MEIS2 1 0 0 0 0 1
MMACHC 1 0 0 0 0 1
MYH6 0 0 1 0 0 1
MYO15A 0 1 0 0 0 1
MYT1L 1 0 0 0 0 1
NALCN 1 0 0 0 0 1
NEXMIF 1 0 0 0 0 1
NF1 1 0 0 0 0 1
NIPBL 0 0 1 0 0 1
NKX2-1, SFTA3 1 0 0 0 0 1
NPHP3, NPHP3-ACAD11 1 0 0 0 0 1
NR5A1 0 1 0 0 0 1
NRXN1 0 0 1 0 0 1
NSD2 1 0 0 0 0 1
OPA1 1 0 0 0 0 1
OPHN1 0 0 1 0 0 1
PACS2 1 0 0 0 0 1
PAFAH1B1 1 0 0 0 0 1
PAK3 0 1 0 0 0 1
PAX1 0 1 0 0 0 1
PHF6 0 1 0 0 0 1
PIGL 1 0 0 0 0 1
PIK3CD 1 0 0 0 0 1
PIK3R1 1 0 0 0 0 1
PMM2 1 0 0 0 0 1
PMP22 0 0 1 0 0 1
POGZ 0 1 0 0 0 1
POLR2A 0 1 0 0 0 1
PPM1D 1 0 0 0 0 1
PPP1CB 1 0 0 0 0 1
PPP2R5D 0 1 0 0 0 1
PRDX1 0 0 1 0 0 1
PROC 0 1 0 0 0 1
PTCHD1 0 1 0 0 0 1
PURA 0 1 0 0 0 1
QRICH1 1 0 0 0 0 1
RNF213 0 0 1 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 1
RUNX2 0 0 1 0 0 1
RYR2 0 0 1 0 0 1
SACS 1 0 0 0 0 1
SALL1 1 0 0 0 0 1
SCN2A 0 1 0 0 0 1
SCN4A 1 0 0 0 0 1
SGSH 0 0 1 0 0 1
SH2D1A 1 0 0 0 0 1
SHANK1 0 0 1 0 0 1
SHANK3 1 0 0 0 0 1
SHH 0 0 1 0 0 1
SIL1 0 0 1 0 0 1
SLC2A1 1 0 0 0 0 1
SLC9A6 0 1 0 0 0 1
SMARCB1 0 1 0 0 0 1
SMG8 0 1 0 0 0 1
SMO 0 0 1 0 0 1
SOX11 1 0 0 0 0 1
SPEN 1 0 0 0 0 1
SPTAN1 0 0 1 0 0 1
SSR4 1 0 0 0 0 1
STAG1 0 1 0 0 0 1
TBCEL-TECTA, TECTA 0 0 1 0 0 1
TELO2 0 1 0 0 0 1
TET3 1 0 0 0 0 1
TLK2 0 0 1 0 0 1
TNFRSF13B 1 0 0 0 0 1
TPM3 1 0 0 0 0 1
TUBA1A 0 1 0 0 0 1
TUBB4A 1 0 0 0 0 1
USP9X 0 1 0 0 0 1
WAC 1 0 0 0 0 1
XPO1 0 0 1 0 0 1
ZEB2 1 0 0 0 0 1
ZFHX3 0 0 1 0 0 1
ZFHX4 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 253
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Brugada syndrome 2 6 27 10 5 50
Familial Mediterranean fever 0 0 18 7 0 25
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 3 7 5 6 1 22
beta Thalassemia 10 4 0 7 0 21
Amyloidosis, hereditary systemic 1 4 5 6 3 0 18
Cystic fibrosis 0 2 7 2 1 12
not provided 4 6 0 0 0 10
CFTR-related disorder 0 1 6 2 0 9
Complex neurodevelopmental disorder 0 3 6 0 0 9
TNF receptor-associated periodic fever syndrome (TRAPS) 0 1 3 5 0 9
Androgen resistance syndrome 1 5 1 1 0 8
Coffin-Siris syndrome 1 7 1 0 0 0 8
Hyperimmunoglobulin D with periodic fever 2 1 0 3 0 6
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 4 2 0 0 0 6
Neurodevelopmental disorder 2 1 3 0 0 6
Nonsyndromic genetic hearing loss 5 1 0 0 0 6
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2 4 0 0 0 6
nonsyndromic sensorineural hearing loss 4 1 0 0 1 6
KBG syndrome 4 1 0 0 0 5
Kabuki syndrome 1 4 1 0 0 0 5
Nonsyndromic Deafness 2 0 3 0 0 5
Severe intellectual disability-progressive spastic diplegia syndrome 5 0 0 0 0 5
Intellectual disability, X-linked 102 3 1 0 0 0 4
Noonan syndrome 1 4 0 0 0 0 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 1 1 1 0 3
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2 1 0 0 0 3
Intellectual disability, autosomal dominant 5 0 3 0 0 0 3
Intellectual disability, autosomal recessive 53 1 2 0 0 0 3
Rett syndrome 3 0 0 0 0 3
Syndromic intellectual disability 1 1 1 0 0 3
Tatton-Brown-Rahman overgrowth syndrome 0 2 1 0 0 3
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 1 0 0 0 2
Alstrom syndrome 2 0 0 0 0 2
Autism spectrum disorder due to AUTS2 deficiency 2 0 0 0 0 2
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 1 0 0 0 2
Autosomal recessive cutis laxa type 2B 2 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 3 1 1 0 0 0 2
Autosomal recessive spinocerebellar ataxia 17 0 1 1 0 0 2
Baraitser-Winter syndrome 1 1 1 0 0 0 2
Biotinidase deficiency 1 1 0 0 0 2
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 1 0 0 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 1 0 0 2
Cobalamin C disease 1 0 1 0 0 2
Coffin-Lowry syndrome 1 1 0 0 0 2
Cohen syndrome 2 0 0 0 0 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 1 0 0 0 2
DYRK1A-related intellectual disability syndrome 1 1 0 0 0 2
Duchenne muscular dystrophy 0 0 1 1 0 2
Hereditary liability to pressure palsies 0 0 1 1 0 2
Hereditary spastic paraplegia 15 0 1 1 0 0 2
Hereditary spastic paraplegia 4 2 0 0 0 0 2
Hereditary spastic paraplegia 7 2 0 0 0 0 2
Hypercholesterolemia, familial, 1 1 1 0 0 0 2
Hypokalemic periodic paralysis 1 0 0 1 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 1 1 0 0 2
Intellectual developmental disorder with autism and macrocephaly 0 1 1 0 0 2
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 1 1 0 0 2
Intellectual disability, autosomal dominant 52 2 0 0 0 0 2
Intellectual disability, autosomal dominant 57 1 0 1 0 0 2
Intellectual disability, autosomal dominant 9 2 0 0 0 0 2
Intellectual disability, autosomal recessive 44 0 1 1 0 0 2
Intellectual disability, autosomal recessive 65 0 0 2 0 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 2 0 0 0 0 2
Isolated microphthalmia 5 0 2 0 0 0 2
Kleefstra syndrome 2 1 0 1 0 0 2
Mitochondrial disease 1 1 0 0 0 2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 1 1 0 0 0 2
Noonan syndrome 3 1 0 1 0 0 2
Oculofaciocardiodental syndrome 1 1 0 0 0 2
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 1 0 0 0 2
PTEN hamartoma tumor syndrome 2 0 0 0 0 2
Pendred syndrome 1 0 1 0 0 2
Periventricular nodular heterotopia 7 2 0 0 0 0 2
Pitt-Hopkins syndrome 2 0 0 0 0 2
RAB23-related Carpenter syndrome 1 0 1 0 0 2
Renpenning syndrome 2 0 0 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 1 1 0 0 0 2
Sensorineural hearing loss disorder 1 0 1 0 0 2
Smith-Magenis syndrome 2 0 0 0 0 2
Spondyloepimetaphyseal dysplasia, Genevieve type 0 1 1 0 0 2
Stickler syndrome type 2 0 2 0 0 0 2
Syndromic X-linked intellectual disability Nascimento type 0 2 0 0 0 2
Teebi hypertelorism syndrome 1 0 1 1 0 0 2
Werner syndrome 1 0 0 0 1 2
46,XY sex reversal 3 0 1 0 0 0 1
8q24.3 microdeletion syndrome 0 1 0 0 0 1
Alzahrani-Kuwahara syndrome 0 1 0 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 0 0 1
Aspartylglucosaminuria 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 0 0 1 0 0 1
Bardet-Biedl syndrome 7 0 1 0 0 0 1
Beck-Fahrner syndrome 1 0 0 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 0 0 1
Bohring-Opitz syndrome 1 0 0 0 0 1
Borjeson-Forssman-Lehmann syndrome 0 1 0 0 0 1
Brain-lung-thyroid syndrome 1 0 0 0 0 1
CASK-related disorder 1 0 0 0 0 1
CBL-related disorder 1 0 0 0 0 1
CHARGE syndrome 1 0 0 0 0 1
COL2A1-related disorder 0 1 0 0 0 1
CTCF-related neurodevelopmental disorder 1 0 0 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 1 0 0 0 0 1
Cardiofaciocutaneous syndrome 1 1 0 0 0 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 0 0 1
Cardiospondylocarpofacial syndrome 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 1 0 0 1
Charlevoix-Saguenay spastic ataxia 1 0 0 0 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 0 0 1 0 0 1
Christianson syndrome 0 1 0 0 0 1
Cleidocranial dysostosis 0 0 1 0 0 1
Combined malonic and methylmalonic acidemia 1 0 0 0 0 1
Complex neurodevelopmental disorder with motor features 0 0 1 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 1 0 0 0 0 1
Congenital heart defects, multiple types, 7 0 0 1 0 0 1
Congenital myopathy 4A, autosomal dominant 1 0 0 0 0 1
Cornelia de Lange syndrome 1 0 0 1 0 0 1
Cornelia de Lange syndrome 5 0 0 1 0 0 1
Cowden syndrome 5 1 0 0 0 0 1
Craniofacial microsomia 1 0 0 1 0 0 1
Curry-Jones syndrome 0 0 1 0 0 1
DPAGT1-congenital disorder of glycosylation 0 0 1 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 0 0 1
Desmin-related myofibrillar myopathy 0 1 0 0 0 1
Developmental and epileptic encephalopathy 0 0 1 0 0 1
Developmental and epileptic encephalopathy 94 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 26 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 32 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 4 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 43 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 54 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 7 0 1 0 0 0 1
Developmental delay with or without epilepsy 0 0 1 0 0 1
Developmental delay with variable intellectual disability and dysmorphic facies 1 0 0 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 1 0 0 1
Diamond-Blackfan anemia 0 1 0 0 0 1
Dias-Logan syndrome 0 1 0 0 0 1
Donnai-Barrow syndrome 1 0 0 0 0 1
Dyskeratosis congenita, autosomal recessive 5 0 0 1 0 0 1
Dyskinesia with orofacial involvement 1 0 0 0 0 1
Ectodermal dysplasia WNT10A related 1 0 0 0 0 1
FOXG1 disorder 0 1 0 0 0 1
GLUT1 deficiency syndrome 1 0 0 0 0 1
GNAS-related disorder 1 0 0 0 0 1
Glutaric aciduria, type 1 0 1 0 0 0 1
Hemoglobin H disease 0 0 1 0 0 1
Hereditary spastic paraplegia 47 0 1 0 0 0 1
Hereditary thrombophilia due to congenital protein C deficiency 0 1 0 0 0 1
Holoprosencephaly 3 0 0 1 0 0 1
Houge-Janssens syndrome 1 0 1 0 0 0 1
Hyperkalemic periodic paralysis 1 0 0 0 0 1
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 0 1 0 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 0 1 0 0 0 1
Hypomagnesemia, seizures, and intellectual disability 2 0 0 1 0 0 1
Hypomyelinating leukodystrophy 6 1 0 0 0 0 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 0 0 1
ITPR1-associated cerebellar ataxia spectrum disorder 1 0 0 0 0 1
Ichthyosis vulgaris 1 0 0 0 0 1
Immunodeficiency 14 1 0 0 0 0 1
Immunodeficiency, common variable, 2 1 0 0 0 0 1
Intellectual developmental disorder 61 0 0 0 1 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 1 0 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 0 0 1
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 1 0 0 0 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 0 1 0 0 1
Intellectual disability 0 1 0 0 0 1
Intellectual disability, X-linked 30 0 1 0 0 0 1
Intellectual disability, X-linked 99, syndromic, female-restricted 0 1 0 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 1 0 0 0 1
Intellectual disability, X-linked, syndromic, Houge type 0 0 1 0 0 1
Intellectual disability, autosomal dominant 15 0 1 0 0 0 1
Intellectual disability, autosomal dominant 39 1 0 0 0 0 1
Intellectual disability, autosomal dominant 41 1 0 0 0 0 1
Intellectual disability, autosomal dominant 42 1 0 0 0 0 1
Intellectual disability, autosomal dominant 47 0 1 0 0 0 1
Intellectual disability, autosomal dominant 51 1 0 0 0 0 1
Intellectual disability, autosomal dominant 53 0 0 1 0 0 1
Intellectual disability, autosomal recessive 27 0 1 0 0 0 1
Intellectual disability, seizures, abnormal gait and distinctive facial features 1 0 0 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 0 0 0 1
Jeffries-Lakhani neurodevelopmental syndrome 0 1 0 0 0 1
KAT6B-Related Spectrum Disorders 1 0 0 0 0 1
KAT6B-related multiple congenital anomalies syndrome 0 0 1 0 0 1
KCNB1-related disorder 1 0 0 0 0 1
KCNQ2-Related Disorders 1 0 0 0 0 1
Kabuki syndrome 2 1 0 0 0 0 1
Kleefstra syndrome 1 1 0 0 0 0 1
Lacrimoauriculodentodigital syndrome 3 0 1 0 0 0 1
Larsen syndrome 1 0 0 0 0 1
Lissencephaly due to LIS1 mutation 1 0 0 0 0 1
Long QT syndrome 1 1 0 0 0 0 1
METHEMOGLOBINEMIA, BETA TYPE 1 0 0 0 0 1
MYH-6 related congenital heart defects 0 0 1 0 0 1
Marinesco-Sjögren syndrome 0 0 1 0 0 1
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 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 1 0 0 0 0 1
Mowat-Wilson syndrome 1 0 0 0 0 1
Moyamoya disease 2 0 0 1 0 0 1
Mucopolysaccharidosis, MPS-III-A 0 0 1 0 0 1
Nephronophthisis 1 0 0 0 0 1
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 0 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and variable seizures 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 1 0 0 0 1
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder 0 1 0 0 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 0 0 0 0 1
Neurofibromatosis, type 1 1 0 0 0 0 1
Non-syndromic X-linked intellectual disability 0 1 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 2 1 0 0 0 0 1
Ocular impairment 1 0 0 0 0 1
Otofaciocervical syndrome 2 0 1 0 0 0 1
Otospondylomegaepiphyseal dysplasia, autosomal dominant 0 0 1 0 0 1
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 0 1 0 0 0 1
PMM2-congenital disorder of glycosylation 1 0 0 0 0 1
PTEN-related disorder 1 0 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 1 0 0 0 1
Paramyotonia congenita of Von Eulenburg 0 1 0 0 0 1
Phelan-McDermid syndrome 1 0 0 0 0 1
Poirier-Bienvenu neurodevelopmental syndrome 0 0 1 0 0 1
Progressive myoclonic epilepsy 1 0 0 0 0 1
RYR1-related myopathy 0 1 0 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 0 1
Radio-Tartaglia syndrome 1 0 0 0 0 1
Rauch-Steindl syndrome 1 0 0 0 0 1
SCN8A-related disorder 0 1 0 0 0 1
SCN8A-related epileptic disorder 0 1 0 0 0 1
SHORT syndrome 1 0 0 0 0 1
SLC39A8-CDG 0 0 1 0 0 1
SSR4-congenital disorder of glycosylation 1 0 0 0 0 1
STXBP1-associated neurodevelopmental disorder 1 0 0 0 0 1
Schaaf-Yang syndrome 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
Skraban-Deardorff syndrome 0 1 0 0 0 1
TELO2-related intellectual disability-neurodevelopmental disorder 0 1 0 0 0 1
Temtamy syndrome 1 0 0 0 0 1
Thanatophoric dysplasia 1 0 0 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 0 1
Tooth agenesis, selective, X-linked, 1 0 1 0 0 0 1
Townes-Brocks syndrome 1 1 0 0 0 0 1
Tubulinopathy 0 1 0 0 0 1
Usmani-Riazuddin syndrome, autosomal dominant 1 0 0 0 0 1
Van der Woude syndrome 1 0 1 0 0 0 1
Ververi-Brady syndrome 1 0 0 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 0 1 0 0 1
X-linked lymphoproliferative disease due to SH2D1A deficiency 1 0 0 0 0 1
X-linked recessive seizure and neurodevelopmental deficit 0 1 0 0 0 1
X-linked sideroblastic anemia with ataxia 0 1 0 0 0 1
ZFHX4-related syndrome 0 0 1 0 0 1
alpha Thalassemia 0 0 1 0 0 1

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