Human | DOK7 | 285489 | docking protein 7 | considerable phenotypic variability associated with congenital myasthenic syndrome due to DOK7 mutations |
Human | PINK1 | 65018 | PTEN induced putative kinase 1 | Absence of correlation between PINK1 mRNA levels and clinical status in heterozygous mutation carriers suggests that other genetic or environmental factors play a role in determining the phenotypic variability in Parkinson disease |
Human | SOD1 | 6647 | superoxide dismutase 1, soluble | The phenotypic variability between SOD1 mutation carrying patients in this study is dramatic, even among patients with the same mutation |
Human | SHOX | 6473 | short stature homeobox | patients with SHOX mutations present a broad phenotypic variability; SHOX mutations are very frequent in Leri-Weill dyschondrosteosis (89%), in opposition to idiopathic short stature (3.2%) in our cohort |
Human | RYR1 | 6261 | ryanodine receptor 1 (skeletal) | |
Human | PROP1 | 5626 | PROP paired-like homeobox 1 | remarkable phenotypic variability in combined pituitary hormone deficiency in siblings with the R120C mutation |
Human | SLC26A4 | 5172 | solute carrier family 26 (anion exchanger), member 4 | novel 11 bp duplication was found in a family with Pendred syndrome, showing a high intrafamilial phenotypic variability |
Human | PCSK1 | 5122 | proprotein convertase subtilisin/kexin type 1 | |
Human | OPA1 | 4976 | optic atrophy 1 (autosomal dominant) | |
Human | NPY | 4852 | neuropeptide Y | remarkable haplotypic association suggested that the interaction between the 2 common sequence polymorphisms in NPY contributed to a great amount of phenotypic variability of ischemic stroke |
Human | CYTB | 4519 | cytochrome b | clinical/phenotypic variability of the G15498A mutation in mitochondrial DNA |
Human | LAMP2 | 3920 | lysosomal-associated membrane protein 2 | |
Human | KRAS | 3845 | Kirsten rat sarcoma viral oncogene homolog | Phenotypic variability may be related, at least in part, to specific genotypes and possibly reflects the central role of K-Ras in a number of different signalling pathways |
Human | GJB1 | 2705 | gap junction protein, beta 1, 32kDa | Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability |
Human | GAA | 2548 | glucosidase, alpha; acid | Childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn |
Human | CLCN1 | 1180 | chloride channel, voltage-sensitive 1 | Phenotypic variability of autosomal dominant myotonia congenita in a family with muscle chloride channel (CLCN1) mutation |
Human | CFTR | 1080 | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) | Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability |
Human | CACNA1A | 773 | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit | Report highlights profound phenotypic variability that can be associated with CACNA1A mutations associated with cerebellar ataxia |
Human | BRCA2 | 675 | breast cancer 2, early onset | BRCA1 and BRCA2 mutation status have roles in inter-cell-line phenotypic variability after irradiation of lymphoblastoid cell lines |
Human | BRCA1 | 672 | breast cancer 1, early onset | BRCA1 and BRCA2 mutation status have roles in inter-cell-line phenotypic variability after irradiation of lymphoblastoid cell lines |