| | | Single nucleotide variant (synonymous variant +2 more) | TMX2-related disorder | |
| | | Copy number gain | Pontocerebellar hypoplasia type 10 | |
| | TMX2, TMX2-CTNND1 (T189A +6 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | TMX2, TMX2-CTNND1 (V204I +6 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | TMX2, TMX2-CTNND1 (T176M +4 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | TMX2, TMX2-CTNND1 (N156fs +6 more) | Deletion (frameshift variant +2 more) | not specified | |
| | TMX2, TMX2-CTNND1 (K199R +6 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | TMX2, TMX2-CTNND1 (R17P +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | TMX2, TMX2-CTNND1 (S4N +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | TMX2, TMX2-CTNND1 (A109T +4 more) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | TMX2-related disorder | |
| | | Single nucleotide variant (intron variant) | TMX2-related disorder | |
| | | Deletion (non-coding transcript variant +3 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | TMX2-CTNND1, TMX2 (N179S +6 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | |
| | TMX2, TMX2-CTNND1 (E189* +6 more) | Single nucleotide variant (nonsense +2 more) | Inborn genetic diseases | |
| | TMX2, TMX2-CTNND1 (P118S +7 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TMX2, TMX2-CTNND1 (M125I +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | TMX2, TMX2-CTNND1 (V148fs +6 more) | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | TMX2, TMX2-CTNND1 (D115Y +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TMX2, TMX2-CTNND1 (M112V +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | TMX2, TMX2-CTNND1 (G188A +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TMX2, TMX2-CTNND1 (V62F +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TMX2, TMX2-CTNND1 (E148V +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | MISSED ABORTION | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity +1 more | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | TMX2, TMX2-CTNND1 (R114W +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | TMX2, TMX2-CTNND1 (L103fs +4 more) | Deletion (frameshift variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | TMX2, TMX2-CTNND1 (R111* +6 more) | Single nucleotide variant (missense variant +3 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | |
| | | Deletion | Intellectual disability | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | |
| | | Deletion (splice donor variant +1 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | |
| | TMX2, TMX2-CTNND1 (R205Q +4 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | TMX2-CTNND1, TMX2 (R253* +6 more) | Single nucleotide variant (nonsense +2 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | |
| | TMX2-CTNND1, TMX2 (L103fs +4 more) | Duplication (frameshift variant +1 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |
| | | | Abnormality of neuronal migration | |
| | TMX2, TMX2-CTNND1 (D109G +2 more) | Single nucleotide variant (missense variant +2 more) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | TMX2, TMX2-CTNND1 (R231W +7 more) | Single nucleotide variant (missense variant +1 more) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Copy number gain | See cases | |
| | LOC130005708, LOC130005709 +48 more | Copy number gain | See cases | |