ClinVar Miner

Variants from HSP Biomedical Diagnostics Department, Hospital San Pedro

Location: Spain  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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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
7 23 1 0 0 31

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
COL7A1 1 1 0 2
SERPING1 2 0 0 2
ATM, C11orf65 0 1 0 1
ATM, C11orf65, LOC128772356, LOC129390354 1 0 0 1
CACNA1G 0 1 0 1
CNKSR2 0 1 0 1
COL4A1 1 0 0 1
COL4A5 0 1 0 1
DCX 0 1 0 1
DDX3X 0 1 0 1
DYM 0 1 0 1
FLNB 0 1 0 1
GJB1 0 1 0 1
GNAS 0 1 0 1
GNB1 0 1 0 1
KCNC1 0 1 0 1
KCNQ3 0 1 0 1
KMT5B 0 1 0 1
MYT1L 0 1 0 1
NAGLU 0 1 0 1
NHLRC1 0 0 1 1
OPA1 0 1 0 1
PKD1 1 0 0 1
RYR1 0 1 0 1
SPTAN1 0 1 0 1
TAPBPL, VAMP1 0 1 0 1
TCF12 0 1 0 1
TSC1 0 1 0 1
WFS1 1 0 0 1

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance total
Ataxia-telangiectasia syndrome 1 1 0 2
Hereditary angioedema type 1 2 0 0 2
Recessive dystrophic epidermolysis bullosa 1 1 0 2
Autosomal dominant nonsyndromic hearing loss 6 1 0 0 1
Autosomal dominant optic atrophy classic form 0 1 0 1
Brain small vessel disease 1 with or without ocular anomalies 1 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2V 0 1 0 1
Developmental and epileptic encephalopathy, 5 0 1 0 1
Dyggve-Melchior-Clausen syndrome 0 1 0 1
Intellectual disability, X-linked 102 0 1 0 1
Intellectual disability, X-linked, syndromic, Houge type 0 1 0 1
Intellectual disability, autosomal dominant 39 0 1 0 1
Intellectual disability, autosomal dominant 42 0 1 0 1
Intellectual disability, autosomal dominant 51 0 1 0 1
Lafora disease 0 0 1 1
Lissencephaly type 1 due to doublecortin gene mutation 0 1 0 1
Malignant hyperthermia, susceptibility to, 1 0 1 0 1
Polycystic kidney disease, adult type 1 0 0 1
Progressive myoclonic epilepsy type 7 0 1 0 1
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type I A 0 1 0 1
Seizures, benign familial neonatal, 2 0 1 0 1
Spastic ataxia 1 0 1 0 1
Spinocerebellar ataxia type 42 0 1 0 1
Spondylocarpotarsal synostosis syndrome 0 1 0 1
TCF12-related craniosynostosis 0 1 0 1
Tuberous sclerosis 1 0 1 0 1
X-linked Alport syndrome 0 1 0 1

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