ClinVar Miner

Variants from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli

Location: Spain  Primary collection method: clinical testing
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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
169 185 0 1 0 354

Gene and significance breakdown #

Total genes and gene combinations: 230
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Gene or gene combination pathogenic likely pathogenic likely benign total
ANKRD11 13 2 0 15
SCN2A 4 2 0 6
ARID1B 3 2 0 5
KMT2A 3 2 0 5
ADNP 1 3 0 4
DDX3X 3 1 0 4
FBXO11 1 3 0 4
POGZ 3 1 0 4
SHANK3 3 1 0 4
SIN3A 1 3 0 4
WAC 3 1 0 4
AUTS2 2 1 0 3
GNB1 1 2 0 3
GRIN2B 1 2 0 3
IQSEC2 2 1 0 3
NAA15 1 2 0 3
NR2F1 1 2 0 3
SCN8A 1 2 0 3
SETD1A 0 3 0 3
SHANK1 1 2 0 3
SON 3 0 0 3
TCF20 3 0 0 3
TLK2 1 2 0 3
TRIP12 3 0 0 3
USP9X 1 2 0 3
ZNF292 2 1 0 3
ACTB 0 2 0 2
ADSL 2 0 0 2
AHDC1 0 2 0 2
AP1G1 1 1 0 2
BPTF 1 1 0 2
BRF1 1 1 0 2
CAPN3 2 0 0 2
CDK13 1 1 0 2
CNOT1 1 1 0 2
CNOT3 0 2 0 2
CREBBP 0 2 0 2
CSNK2A1 1 2 0 2
DNMT3A 1 1 0 2
DONSON 1 1 0 2
EIF2B5 1 1 0 2
EP300 2 0 0 2
ERF 1 1 0 2
FMR1 0 2 0 2
FOXP1 1 1 0 2
GHR 0 2 0 2
GRIN2A 1 1 0 2
HACE1 2 0 0 2
HID1 1 1 0 2
HNRNPD 0 2 0 2
INPP5K 0 2 0 2
KDM3B 1 1 0 2
KMT2E 1 1 0 2
KMT5B 0 2 0 2
MANBA 1 1 0 2
MECP2 2 0 0 2
PHIP 0 2 0 2
PPP2R1A 0 2 0 2
PQBP1 1 1 0 2
PRR12 2 0 0 2
RAI1 2 0 0 2
SETD1B 1 1 0 2
SETD5 2 0 0 2
SHANK2 2 0 0 2
SMC3 0 2 0 2
SNX14 1 1 0 2
SNX27 0 2 0 2
SPEN 1 1 0 2
SPTAN1 1 1 0 2
TCF12 2 0 0 2
TMX2, TMX2-CTNND1 0 2 0 2
TUBB2A 0 2 0 2
ACTR2 0 1 0 1
ADGRL1 0 1 0 1
AFF2 0 1 0 1
AGO1 0 1 0 1
ANK2 0 1 0 1
ARFGEF1 0 1 0 1
ARID1A 0 1 0 1
ARID2 0 1 0 1
ASCC1 1 0 0 1
ASXL3 1 0 0 1
ATXN7L3, UBTF 1 0 0 1
BCL11A 1 0 0 1
BCL11B 1 0 0 1
BMP4 0 1 0 1
BRD4 1 0 0 1
BRPF1 1 0 0 1
CACNA1C 0 1 0 1
CACNA1D 0 1 0 1
CAMTA1 0 1 0 1
CCDC82 0 1 0 1
CDC42 0 1 0 1
CDK13, LOC129998292 1 0 0 1
CDKL5 1 0 0 1
CELF2 1 0 0 1
CFAP410 0 1 0 1
CHD7 0 1 0 1
CHD8 1 0 0 1
CHN1 0 1 0 1
CHRM1 0 1 0 1
CIC 1 0 0 1
CIT 1 0 0 1
CLCN4 0 0 1 1
CLTC 0 1 0 1
CLTC, LOC125177523 0 1 0 1
CNNM2 0 1 0 1
CNTNAP2 0 1 0 1
COL9A1 1 0 0 1
CPA6 1 0 0 1
CRYGS 0 1 0 1
CTCF 0 1 0 1
CTNNB1 1 0 0 1
CTNNB1, LOC126806658 0 1 0 1
DEAF1 1 0 0 1
DEPDC5 0 1 0 1
DIP2A 0 1 0 1
DLG3 0 1 0 1
DLG4, LOC126862479 1 0 0 1
DLL1 1 0 0 1
DOCK6 1 0 0 1
DSCAM 0 1 0 1
DYM 1 0 0 1
DYNC1H1 0 1 0 1
DYRK1A 0 1 0 1
EBF3 1 0 0 1
EP300, LOC126863158 0 1 0 1
FBXO11, MSH6 1 0 0 1
FBXO28 0 1 0 1
FLNA 0 1 0 1
FLNB 1 0 0 1
FOXG1 1 0 0 1
FOXP2 1 0 0 1
FTSJ1 0 1 0 1
GABRB3 0 1 0 1
GJB2 1 0 0 1
GRIA2 1 0 0 1
GSK3B 1 0 0 1
H4C5, LOC129996027 0 1 0 1
HECTD1 1 0 0 1
HNRNPH2, RPL36A-HNRNPH2 0 1 0 1
HNRNPUL2, HNRNPUL2-BSCL2 0 1 0 1
IDS 0 1 0 1
IL1RAPL1 0 1 0 1
IRF2BPL 1 0 0 1
KAT6A 0 1 0 1
KAT6B 0 1 0 1
KCNB1 0 1 0 1
KCNH1 1 0 0 1
KCNQ2 1 0 0 1
KDM5C 0 1 0 1
KDM6B 0 1 0 1
KMT2C 1 0 0 1
KMT2D 1 0 0 1
LHX4 0 1 0 1
LOC102724058, SCN1A 1 0 0 1
LOC126806878, TBL1XR1 0 1 0 1
LOC126859827, TAB2 1 0 0 1
LOC126863275, MED12 0 1 0 1
MAN2B1 1 0 0 1
MAP1B 1 0 0 1
MARK2 0 1 0 1
MDGA2 0 1 0 1
MEA1, PPP2R5D 1 0 0 1
MED12 0 1 0 1
MED13 1 0 0 1
MED13L 0 1 0 1
MSL2 1 0 0 1
MYH3 0 1 0 1
NAA10 1 0 0 1
NCAM1 1 0 0 1
NCKAP1 0 1 0 1
NF1 0 1 0 1
NFIX 1 0 0 1
NIPBL 0 1 0 1
NONO 1 0 0 1
NR2F2 0 1 0 1
NR3C2 1 0 0 1
NSD1 0 1 0 1
NSD2 0 1 0 1
OFD1 0 1 0 1
PABPC1 0 1 0 1
PACS2 1 0 0 1
PARD3B 0 1 0 1
PBX1 1 0 0 1
PER3 0 1 0 1
PHF21A 1 0 0 1
PIK3CA 0 1 0 1
PKD1 0 1 0 1
PPP2R5C 0 1 0 1
PTEN 1 0 0 1
PTPN11 1 0 0 1
PURA 0 1 0 1
PUS7 1 0 0 1
RAC1 0 1 0 1
RAC3 1 0 0 1
RAD21 0 1 0 1
RALGAPB 1 0 0 1
RERE 0 1 0 1
RFX7 0 1 0 1
RHEB 0 1 0 1
RLIM 0 1 0 1
RORA 1 0 0 1
RPS6KA3 0 1 0 1
SATB2 1 0 0 1
SCAF4 1 0 0 1
SETBP1 1 0 0 1
SMARCA5 0 1 0 1
SNAP25 0 1 0 1
SOX5 1 0 0 1
SRCAP 1 0 0 1
STAG1 0 1 0 1
STXBP1 1 0 0 1
SYT1 0 1 0 1
SZT2 1 0 0 1
TAB2 0 1 0 1
TAF1 0 1 0 1
TPM3 1 0 0 1
TRAF7 0 1 0 1
TRPM3 1 0 0 1
TRRAP 0 1 0 1
TUBA1A 1 0 0 1
WDR26 0 1 0 1
WDR45 0 1 0 1
YY1 0 1 0 1
ZBTB18 0 1 0 1
ZBTB7A 0 1 0 1
ZEB2 0 1 0 1
ZMYM2 1 0 0 1
ZMYND8 0 1 0 1

Condition and significance breakdown #

Total conditions: 122
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Condition pathogenic likely pathogenic likely benign total
See cases 68 86 1 155
Intellectual disability 8 16 0 24
KBG syndrome 10 2 0 12
Autism spectrum disorder 3 2 0 5
Autosomal dominant non-syndromic intellectual disability 3 0 0 3
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2 1 0 3
Developmental and epileptic encephalopathy, 11 3 0 0 3
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2 1 0 3
Intellectual developmental disorder, autosomal dominant 64 2 1 0 3
Intellectual disability, autosomal dominant 42 1 2 0 3
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 3 0 3
Phelan-McDermid syndrome 2 1 0 3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2 1 0 3
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 2 0 2
Adenylosuccinate lyase deficiency 2 0 0 2
Autosomal recessive spinocerebellar ataxia 20 1 1 0 2
Beta-D-mannosidosis 1 1 0 2
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 1 0 2
Congenital heart defects, multiple types, 2 1 1 0 2
Congenital muscular dystrophy with cataracts and intellectual disability 0 2 0 2
DeSanto-Shinawi syndrome due to WAC point mutation 1 1 0 2
Developmental delay with variable intellectual impairment and behavioral abnormalities 2 0 0 2
Diets-Jongmans syndrome 1 1 0 2
Intellectual developmental disorder with seizures and language delay 1 1 0 2
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 2 0 2
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 1 0 2
O'Donnell-Luria-Rodan syndrome 1 1 0 2
Okur-Chung neurodevelopmental syndrome 1 1 0 2
Radio-Tartaglia syndrome 1 1 0 2
Rare disease with autism 2 0 0 2
Smith-Magenis syndrome 2 0 0 2
Spastic paraplegia-severe developmental delay-epilepsy syndrome 2 0 0 2
Usmani-Riazuddin syndrome, autosomal dominant 1 1 0 2
Wiedemann-Steiner syndrome 1 1 0 2
X-linked intellectual disability-hypotonia-movement disorder syndrome 1 1 0 2
ZTTK syndrome 2 0 0 2
4p partial monosomy syndrome 0 1 0 1
Adams-Oliver syndrome 2 1 0 0 1
Arthrogryposis, distal, type 2B3 0 1 0 1
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 3A 1 0 0 1
Blepharophimosis - intellectual disability syndrome, MKB type 0 1 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 1 0 1
CHARGE syndrome 0 1 0 1
CTCF-related neurodevelopmental disorder 0 1 0 1
Cardiac arrhythmia, ankyrin-B-related 0 1 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 1 0 1
Chromosome 15q24 deletion syndrome 0 1 0 1
Chromosome 2q32-q33 deletion syndrome 1 0 0 1
Clark-Baraitser syndrome 1 0 0 1
Coffin-Siris syndrome 1 1 0 0 1
Coffin-Siris syndrome 6 0 1 0 1
Cognitive impairment with or without cerebellar ataxia 0 1 0 1
Complex cortical dysplasia with other brain malformations 5 0 1 0 1
Congenital heart defects, multiple types, 4 0 1 0 1
Cornelia de Lange syndrome 1 0 1 0 1
Cornelia de Lange syndrome 3 0 1 0 1
Deficiency of alpha-mannosidase 1 0 0 1
Developmental and epileptic encephalopathy 97 1 0 0 1
Developmental and epileptic encephalopathy, 13 1 0 0 1
Developmental and epileptic encephalopathy, 2 1 0 0 1
Developmental and epileptic encephalopathy, 26 0 1 0 1
Developmental and epileptic encephalopathy, 6A 1 0 0 1
Developmental delay with or without dysmorphic facies and autism 0 1 0 1
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 1 0 1
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 1 0 1
Dias-Logan syndrome 1 0 0 1
Dyggve-Melchior-Clausen syndrome 1 0 0 1
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 0 1 0 1
Epilepsy, familial focal, with variable foci 1 0 1 0 1
FOXG1 disorder 1 0 0 1
FRAXE 0 1 0 1
Fragile X syndrome 0 1 0 1
Gabriele de Vries syndrome 0 1 0 1
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0 1 0 1
Intellectual developmental disorder 61 1 0 0 1
Intellectual developmental disorder 62 1 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 1
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 1 0 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 1 0 0 1
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0 1 0 1
Intellectual disability, X-linked 102 1 0 0 1
Intellectual disability, X-linked 9 0 1 0 1
Intellectual disability, X-linked, syndromic, Bain type 0 1 0 1
Intellectual disability, autosomal dominant 13 0 1 0 1
Intellectual disability, autosomal dominant 14 0 1 0 1
Intellectual disability, autosomal dominant 22 0 1 0 1
Intellectual disability, autosomal dominant 29 1 0 0 1
Intellectual disability, autosomal dominant 50 0 1 0 1
Intellectual disability, autosomal dominant 56 0 1 0 1
Intellectual disability, autosomal dominant 57 0 1 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 1 0 1
Joubert syndrome 10 0 1 0 1
Kabuki syndrome 1 1 0 0 1
Karayol-Borroto-Haghshenas neurodevelopmental syndrome 1 0 0 1
Kleefstra syndrome 2 1 0 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 1
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 0 1 0 1
Microcephaly 17, primary, autosomal recessive 1 0 0 1
Microphthalmia, syndromic 1 1 0 0 1
Mucopolysaccharidosis, MPS-II 0 1 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 1 0 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 1 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 1 0 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 1 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 0 0 1
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 1 0 0 1
Neurofibromatosis, type 1 0 1 0 1
Neuroocular syndrome 1 1 0 0 1
Noonan syndrome 1 1 0 0 1
Oromandibular-limb hypogenesis spectrum 0 1 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 0 1
Periventricular nodular heterotopia 9 1 0 0 1
Presynaptic congenital myasthenic syndrome 0 1 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 0 1 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 1
Sotos syndrome 0 1 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 0 1
Vissers-Bodmer syndrome 0 1 0 1

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