The following table provides an overview of currently known miscellaneous mutations.
| Name | Case | Mutation category | Mutation | Result | Source |
| NS | HRH | Unknown regulatory | unknown regulatory element | reduced mRNA | (Dawson et al., 2005) |
| P1, Case 24-19 | HND | Unknown regulatory | unknown regulatory element | reduced mRNA | (Garcia et al., 2008; Jinnah et al., 2010) |
| P2 (case 12-8), P3 (case 10-8), P4 (case 8-8) | HND | Unknown regulatory | unknown regulatory element | reduced mRNA | (Garcia et al., 2008; Jinnah et al., 2010) |
| LN1 | HND | Unknown regulatory | unknown regulatory element | reduced mRNA | (Garcia et al., 2008) |
| Sample #2 | LND | Unknown regulatory | normal | reduced mRNA | (Nguyen et al., 2012) |
| NL | LND | Unknown regulatory | normal | no activity | new |
| Salamanca, AA, JMA | HND | Double mutation | c.[128T>G;130G>A] | 2 amino acids altered in exon 2 | (Jinnah et al., 2010; Puig et al., 2001; Sege-Peterson et al., 1992; Torres et al., 2000) |
| Japan2 | HND | Double mutation | c.[536T>G;538G>A] | 2 amino acids altered in exon 8 | (Igarishi et al., 1989) |
| LN210, G | LND | Complex deletion | c.-4_4delinsGCC | frame shift in exon 1 | new |
| DK | NA | Complex deletion | c.52_54 delGACinsTAA | p.Asp18* | new |
| NS | LND | Complex deletion | c.119_129delinsGGACTAAT | splicing error | (Gucev et al., 2010) |
| Barcelona | HND | Complex deletion | c.176_180delins ATAGATGTGAAA [1] | frame shift | (Serrano et al., 2008) |
| Case 1-1 | HND | Complex deletion | c.238_239delinsTT | 1 amino acid altered in exon 3, p.D80F | (Jinnah et al., 2010) |
| GB | HND | Complex deletion | c.238_239delinsTT | 1 amino acid altered in exon 3, p.D80F | new |
| 10/00, Family 10 | LND | Complex deletion | c.329_332delinsTCT | 3 bp substituted for 4 bp in exon 4 | (Bertelli et al., 2004; de Gemmis et al., 2010) |
| ID | LND | Complex deletion | c.320_326delATGACCAinsCTTTTTTAT | frame shift in exon 4 | new |
| LN9 | LND | Complex deletion | c.398_402delinsG | 5 bp replaced with 1 bp in exon 5 | (Jinnah et al., 2000) |
| RJK 1210, LN40-4, GB | LND | Complex deletion | c.428_432delinsAGCAAA | 6 bp substituted for 5 bp in exon 6 | (Gibbs et al., 1989; Jinnah et al., 2006) |
| NS | LND | Complex deletion | c.456delinsTT | frame shift | new |
| Family 8 | LND | Complex deletion | c.[475_476insAAGGT;479+27_479+35del9] | exon 2 codes for 2 additional amino acid | (Yamada et al., 2007) |
| Shinagawa, TS | LND | Complex deletion | c.538G>A and 77bp deletion of exon 8 | exon 8 excluded | (Fujimori et al., 1994) |
| CT | LND | Insertation | c.288_289insA | frame shife in exon 3 | (Jinnah et al., 2000) |
| RW | HND | Insertation | c.429_430insGCA | exon 6 codes for an additional amino acid | (Sege-Peterson et al., 1992) |
| NS | LND | Insertation | c.475_476insAAGGCT | frame shift | (Yamada et al., 2011a) |
| NS | LND | Insertation | c.556_557insT | frame shife in exon 8 | (Willers et al., 1999) |
| NS | LND | Translocation | translocation, intron 3 | Two kinds of unusual mRNAs are generated by a chimera gene | (Yamada et al., 2007) |
| Paris, LC | LND | Female Mutation | c.[558T>G];[XIC] | maternal X inactivated; paternal p.Y153* stop mutation | (Aral et al., 1996) |
| FLN | LND | Female Mutation | c.[(?_-30)_(*200_?)];[XIC] | paternal X inactivated; maternal gene deleted | (Ogasawara et al., 1989) |
| LN54, RM | LND | Female Mutation | c.[609+4A>G];[XIC] | mosaic paternal X inactivation; maternal IVS8+4A>G | (Jinnah et al., 2000; Jinnah et al., 2006) |
| S | LND | Female Mutation | c.[508T>C];[XIC] | paternal X inactivated; | (De Gregorio et al., 2000b) |
| Female Mutation | maternal p.R170* stop mutation | ||||
| NS | LND | Female Mutation | c.[151C>T];[XIC] | one X allele nonfunctional | (Yamada et al., 1994) |
| Female Mutation | p.R51* stop mutation | ||||
| NS | LND | Female Mutation | 46,XX,t(X:2)(q26:p25);[XIC] | translocation interrupting hprt gene with non-random inactivation of other | (Rinat et al., 2005) |
| NS | HRH | Female Mutation | c.[215A>G];[XIC] | c.215A>G leading to p.Y72C with non-random inactivation of other | (Sebesta et al., 2008) |
| NS | HRH | Female Mutation | c.[40G>A];[XIC] | p.40G>A leading to p.E14K with non-random inactivation of other | (Inokuchi et al., 2004) |
| NS | LND | Female Mutation | c.[609+4A>G];[XIC] | IVS8+4A>G leading to skip exon 8; non-random inactivation of other | (De Gregorio et al., 2005) |
| LN143 | LND | Female Mutation | c.[580G>T];[XIC] | p.D194Y; non-random inactivation of other | new |
Notes:
[1] In original report, it was c.261_265delins12.