| Human | TREML1 | 340205 | triggering receptor expressed on myeloid cells-like 1 | Phenotypic heterogeneity in the Gray platelet syndrome extends to the expression of TREM family member, TLT-1 |
| Human | SBDS | 51119 | Shwachman-Bodian-Diamond syndrome | analysis of phenotypic heterogeneity in Shwachman-Diamond syndrome patients carrying identical SBDS mutations |
| Human | ZFYVE26 | 23503 | zinc finger, FYVE domain containing 26 | phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with hereditary spastic paraplegia and significantly reduces the SPG15 locus |
| Human | USH2A | 7399 | Usher syndrome 2A (autosomal recessive, mild) | There is considerable phenotypic heterogeneity arising from missense mutations, nonsense codons, amino acid substitutions, and polymorphisms in USH2A and ranges from the Usher syndrome, to non-syndromic retinitis pigmentosa, to unaffected subjects |
| Human | TTR | 7276 | transthyretin | Thus, there was considerable phenotypic heterogeneity among family members with FAP despite the identical TTR genotype |
| Human | TP53 | 7157 | tumor protein p53 | p53 has a role in preventing centrosome amplification, ERalpha phenotypic heterogeneity and metastasis in breast cancer |
| Human | TGFBR2 | 7048 | transforming growth factor, beta receptor II (70/80kDa) | mutations in the TGFBR1,2 gene may be associated with greater phenotypic heterogeneity than previously reported |
| Human | TGFBR1 | 7046 | transforming growth factor, beta receptor 1 | mutations in the TGFBR1,2 gene may be associated with greater phenotypic heterogeneity than previously reported |
| Human | STAT4 | 6775 | signal transducer and activator of transcription 4 | STAT4 contributes to the phenotypic heterogeneity of systemic lupus erythematosus, predisposing specifically to more severe disease |
| Human | SCN4A | 6329 | sodium channel, voltage-gated, type IV, alpha subunit | A large cohort of French-Canadians with a founder SCN4A mutation causing painful cold-induced myotonia underlines the phenotypic heterogeneity of SCN4A mutations with variants in other genes such as CLCN1 that are likely to modulate clinical expression |
| Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity |
| Human | MECP2 | 4204 | methyl CpG binding protein 2 (Rett syndrome) | This result suggests that mechanisms other than X chromosome inactivation may contribute to the phenotypic heterogeneity associated with MECP2 mutations |
| Human | MAF | 4094 | v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog | Findings expand the mutation spectrum of MAF in association with congenital cataract and highlight the genetic and phenotypic heterogeneity of congenital cataract |
| Human | FOXC2 | 2303 | forkhead box C2 (MFH-1, mesenchyme forkhead 1) | An out-of-frame deletion (914-921del) was identified and found to segregate with distichiasis-lymphedema syndrome, further highlighting the phenotypic heterogeneity of lymphedema conditions linked to FOXC2 truncating mutations |
| Human | F9 | 2158 | coagulation factor IX | A quantitative overview of differential parameterization of sequence-based and structural constraints among mutations with and without phenotypic heterogeneity in the Factor IX gene was presented |
| Human | ESR1 | 2099 | estrogen receptor 1 | p53 has a role in preventing centrosome amplification, ERalpha phenotypic heterogeneity and metastasis in breast cancer |
| Human | ATN1 | 1822 | atrophin 1 | |
| Human | CRYGD | 1421 | crystallin, gamma D | To our knowledge, this is the first example of phenotypic heterogeneity associated with the Arg 58 His CRYGD mutation |
| Human | CRYGC | 1420 | crystallin, gamma C | This is the first case of phenotypic heterogeneity in the primary congenital cataract specifically associated with the R168W mutation in the CRYGC gene |
| Human | CRYBB2 | 1415 | crystallin, beta B2 | Our finding expands the spectrum of cataract phenotypes caused by the Q155X mutation of CRYBB2, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the congenital cataract formation |
| Human | COL4A5 | 1287 | collagen, type IV, alpha 5 | absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity |
| Human | AR | 367 | androgen receptor | Title:Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor.|Association:Y|Conclusion:As AR missense mutations changing alanine 870 to valine have been previously described in 3 unrelated patients showing severe AIS phenotypes, we conclude that phenotypic heterogeneity associated to identical mutations in the AR gene is probably due to individual functional differences in AR coregulator molecules. |
| Human | ABCA2 | 20 | ATP-binding cassette, sub-family A (ABC1), member 2 | the expression patterns of ABCA2 in combination with other markers showed phenotypic heterogeneity in schwannomas |
