id | chr | start | end | mean_ratio | genotype | variant_class | inheritance | pathogenicity | contribution | phenotypes |
---|
1002 | 9 | 97336045 | 102019119 | -0.8 | Heterozygous | Deletion | De novo | Unknown | Unknown | Feeding difficulties in infancy|Hyperactivity|Intellectual disability|Large for gestational age|Muscular hypotonia|Pectus excava ... |
1003 | 9 | 138932676 | 141153431 | -1 | Heterozygous | Deletion | Unknown | Unknown | Unknown | Atrial septal defect|Cryptorchidism|Hypospadias|Intellectual disability|Microcephaly|Micropenis|Multiple renal cysts|Muscular hy ... |
1005 | 22 | 19771355 | 19771891 | -0.6 | Heterozygous | Deletion | Unknown | Unknown | Unknown | Autism|Intellectual disability |
1013 | 14 | 104522565 | 107289540 | -1 | Heterozygous | Deletion | De novo | Unknown | Unknown | Abnormality of the forehead|Blepharophimosis|Bulbous nose|Clinodactyly of the 5th finger|High palate|Hypertelorism|Intellectual ... |
1015 | 1 | 220916999 | 226162869 | -0.5 | Heterozygous | Deletion | De novo | Unknown | Unknown | Cleft palate|Coarse facial features|Congenital diaphragmatic hernia|Delayed cranial suture closure|Depressed nasal bridge|Infra- ... |
1016 | 22 | 45574224 | 51244566 | -1 | Heterozygous | Deletion | De novo | Unknown | Unknown | Abnormality of the face|Delayed speech and language development|Intellectual disability|Muscular hypotonia |
1018 | 3 | 142672191 | 155803488 | -0.8327 | Heterozygous | Deletion | De novo | Unknown | Unknown | Anteverted nares|Aplasia cutis congenita of scalp|Blepharophimosis|Broad thumb|Delayed speech and language development|Fine hair ... |
1019 | 16 | 17230368 | 17409257 | -0.9419 | Heterozygous | Deletion | Unknown | Unknown | Unknown | Arachnodactyly|Delayed speech and language development|Intellectual disability|Kyphosis|Microcephaly|Open mouth|Pes cavus|Propor ... |
1020 | 12 | 80056380 | 92843830 | -0.7659 | Heterozygous | Deletion | Unknown | Unknown | Unknown | Intellectual disability|Macroglossia|Strabismus|Tongue fasciculations |
1024 | 18 | 53294589 | 53497081 | -0.6 | Heterozygous | Deletion | Unknown | Unknown | Unknown | Abnormality of the hand|Ataxia|Delayed speech and language development|Hypoplasia of the corpus callosum|Intellectual disability ... |