×
Entrez Id:
63895
Gene Symbol:
PIEZO2
PIEZO2
Early severe fetal akinesia sequence
0.100
CausalMutation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
342035
Gene Symbol:
GLDN
GLDN
Early severe fetal akinesia sequence
0.100
GeneticVariation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Early severe fetal akinesia sequence
0.100
GeneticVariation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Diaphragmatic Eventration
0.100
CausalMutation
CLINVAR
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
31568861
2019
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Orbital separation excessive
0.100
CausalMutation
CLINVAR
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
31568861
2019
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Congenital duplication of intestine
0.100
CausalMutation
CLINVAR
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
31568861
2019
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
MEGALENCEPHALY, AUTOSOMAL DOMINANT
0.100
CausalMutation
CLINVAR
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
31568861
2019
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Abnormality of the hairline
0.100
CausalMutation
CLINVAR
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
31568861
2019
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
GeneticVariation
CLINVAR
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
31568572
2019
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
31568572
2019
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
31568572
2019
×
Entrez Id:
1824
Gene Symbol:
DSC2
DSC2
Arrhythmogenic Right Ventricular Dysplasia
0.200
GeneticVariation
CLINVAR
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
31568572
2019
×
Entrez Id:
1384
Gene Symbol:
CRAT
CRAT
Carnitine Acetyltransferase Deficiency
0.110
GeneticVariation
CLINVAR
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
31448845
2020
×
Entrez Id:
1384
Gene Symbol:
CRAT
CRAT
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
31448845
2020
×
Entrez Id:
1384
Gene Symbol:
CRAT
CRAT
Ophthalmoplegia
0.100
GeneticVariation
CLINVAR
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
31448845
2020
×
Entrez Id:
1384
Gene Symbol:
CRAT
CRAT
Respiratory Insufficiency
0.100
GeneticVariation
CLINVAR
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
31448845
2020
×
Entrez Id:
1384
Gene Symbol:
CRAT
CRAT
Seizures
0.100
GeneticVariation
CLINVAR
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
31448845
2020
×
Entrez Id:
1384
Gene Symbol:
CRAT
CRAT
Pediatric failure to thrive
0.100
GeneticVariation
CLINVAR
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
31448845
2020
×
Entrez Id:
1384
Gene Symbol:
CRAT
CRAT
Mitochondrial respiratory chain defects
0.100
GeneticVariation
CLINVAR
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
31448845
2020
×
Entrez Id:
5073
Gene Symbol:
PARN
PARN
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
0.700
CausalMutation
CLINVAR
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.
31448843
2019
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report.
31349801
2019
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.
31347298
2019
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls.
31341520
2019
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
GeneticVariation
CLINVAR
RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.
31333075
2019
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500
CausalMutation
CLINVAR
RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.
31333075
2019