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
115 121 0 1 0 236

Gene and significance breakdown #

Total genes and gene combinations: 163
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Gene or gene combination pathogenic likely pathogenic likely benign total
ANKRD11 7 1 0 8
ADNP 1 3 0 4
ARID1B 2 2 0 4
SCN2A 3 1 0 4
AUTS2 2 1 0 3
DDX3X 2 1 0 3
GRIN2B 1 2 0 3
IQSEC2 2 1 0 3
KMT2A 2 1 0 3
NAA15 1 2 0 3
NR2F1 1 2 0 3
POGZ 2 1 0 3
SIN3A 1 2 0 3
TLK2 1 2 0 3
USP9X 1 2 0 3
AHDC1 0 2 0 2
AP1G1 1 1 0 2
BRF1 1 1 0 2
CAPN3 2 0 0 2
CREBBP 0 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
FBXO11 0 2 0 2
FMR1 0 2 0 2
GHR 0 2 0 2
GNB1 1 1 0 2
GRIN2A 1 1 0 2
HACE1 2 0 0 2
HID1 1 1 0 2
INPP5K 0 2 0 2
KMT5B 0 2 0 2
MECP2 2 0 0 2
PHIP 0 2 0 2
PPP2R1A 0 2 0 2
PQBP1 1 1 0 2
SCN8A 1 1 0 2
SETD5 2 0 0 2
SHANK1 1 1 0 2
SHANK2 2 0 0 2
SHANK3 2 0 0 2
SNX27 0 2 0 2
SON 2 0 0 2
SPTAN1 1 1 0 2
TMX2, TMX2-CTNND1 0 2 0 2
TRIP12 2 0 0 2
WAC 2 0 0 2
ZNF292 1 1 0 2
ACTB 0 1 0 1
AGO1 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
BMP4 0 1 0 1
BPTF 0 1 0 1
BRD4 1 0 0 1
BRPF1 1 0 0 1
CACNA1D 0 1 0 1
CAMTA1 0 1 0 1
CCDC82 0 1 0 1
CDC42 0 1 0 1
CDK13 1 0 0 1
CDK13, LOC129998292 1 0 0 1
CELF2 1 0 0 1
CFAP410 0 1 0 1
CHD7 0 1 0 1
CHN1 0 1 0 1
CHRM1 0 1 0 1
CIC 1 0 0 1
CLCN4 0 0 1 1
CLTC, LOC125177523 0 1 0 1
CNNM2 0 1 0 1
CNOT1 1 0 0 1
CNTNAP2 0 1 0 1
COL9A1 1 0 0 1
CRYGS 0 1 0 1
CSNK2A1 1 1 0 1
CTNNB1, LOC126806658 0 1 0 1
DEAF1 1 0 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
DYNC1H1 0 1 0 1
DYRK1A 0 1 0 1
EBF3 1 0 0 1
FBXO11, MSH6 1 0 0 1
FBXO28 0 1 0 1
FLNA 0 1 0 1
FLNB 1 0 0 1
FOXP1 1 0 0 1
FOXP2 1 0 0 1
GABRB3 0 1 0 1
GRIA2 1 0 0 1
H4C5, LOC129996027 0 1 0 1
HNRNPH2, RPL36A-HNRNPH2 0 1 0 1
IDS 0 1 0 1
IL1RAPL1 0 1 0 1
KAT6A 0 1 0 1
KCNH1 1 0 0 1
KCNQ2 1 0 0 1
KMT2E 1 0 0 1
LHX4 0 1 0 1
LOC102724058, SCN1A 1 0 0 1
LOC126806878, TBL1XR1 0 1 0 1
LOC126863275, MED12 0 1 0 1
MAP1B 1 0 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
NAA10 1 0 0 1
NCAM1 1 0 0 1
NCKAP1 0 1 0 1
NFIX 1 0 0 1
NONO 1 0 0 1
PACS2 1 0 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
PRR12 1 0 0 1
PTEN 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
RLIM 0 1 0 1
RORA 1 0 0 1
RPS6KA3 0 1 0 1
SCAF4 1 0 0 1
SETD1A 0 1 0 1
SMARCA5 0 1 0 1
SMC3 0 1 0 1
SNAP25 0 1 0 1
SOX5 1 0 0 1
SPEN 1 0 0 1
SRCAP 1 0 0 1
STAG1 0 1 0 1
STXBP1 1 0 0 1
SZT2 1 0 0 1
TAB2 0 1 0 1
TAF1 0 1 0 1
TCF20 1 0 0 1
TPM3 1 0 0 1
TRAF7 0 1 0 1
TRPM3 1 0 0 1
TUBA1A 1 0 0 1
TUBB2A 0 1 0 1
WDR26 0 1 0 1
WDR45 0 1 0 1
YY1 0 1 0 1
ZBTB18 0 1 0 1
ZEB2 0 1 0 1

Condition and significance breakdown #

Total conditions: 56
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Condition pathogenic likely pathogenic likely benign total
See cases 68 86 1 155
Intellectual disability 5 5 0 10
KBG syndrome 4 1 0 5
Autosomal dominant non-syndromic intellectual disability 3 0 0 3
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 2 0 2
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 1 0 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2 0 0 2
Congenital muscular dystrophy with cataracts and intellectual disability 0 2 0 2
Developmental and epileptic encephalopathy, 11 2 0 0 2
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome 1 1 0 2
Intellectual developmental disorder, autosomal dominant 64 1 1 0 2
Rare disease with autism 2 0 0 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2 0 0 2
Spastic paraplegia-severe developmental delay-epilepsy syndrome 2 0 0 2
Usmani-Riazuddin syndrome, autosomal dominant 1 1 0 2
X-linked intellectual disability-hypotonia-movement disorder syndrome 1 1 0 2
Adams-Oliver syndrome 2 1 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 1
Blepharophimosis - intellectual disability syndrome, MKB type 0 1 0 1
CHARGE association 0 1 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 1 0 1
Coffin-Siris syndrome 6 0 1 0 1
Congenital heart defects, multiple types, 2 0 1 0 1
Developmental and epileptic encephalopathy 97 1 0 0 1
Developmental and epileptic encephalopathy, 13 1 0 0 1
Developmental and epileptic encephalopathy, 6 1 0 0 1
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 0 1 0 1
Fragile X syndrome 0 1 0 1
Gabriele de Vries 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 behavioral abnormalities and craniofacial dysmorphism with or without seizures 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1 0 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 22 0 1 0 1
Intellectual disability, autosomal dominant 50 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
Lissencephaly due to TUBA1A mutation 1 0 0 1
Microphthalmia, syndromic 1 1 0 0 1
Mucopolysaccharidosis, MPS-II 0 1 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 1 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 1 0 0 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 1 0 1
O'Donnell-Luria-Rodan syndrome 1 0 0 1
Okur-Chung neurodevelopmental syndrome 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
Phelan-McDermid syndrome 1 0 0 1
Presynaptic congenital myasthenic syndrome 0 1 0 1
Radio-Tartaglia syndrome 1 0 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
ZTTK syndrome 1 0 0 1

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