| | CTNND1, TMX2-CTNND1 (L565del +5 more) | Microsatellite (non-coding transcript variant) | not provided | |
| | CTNND1, TMX2-CTNND1 (Y201F +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Blepharocheilodontic syndrome 2 | |
| | | Deletion (non-coding transcript variant) | not provided | |
| | TMX2-CTNND1, CTNND1 (S577L +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (R277C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | TMX2-related disorder | |
| | | Deletion (intron variant) | CTNND1-related disorder | |
| | CTNND1, TMX2-CTNND1 (E711* +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related disorder | |
| | CTNND1, TMX2-CTNND1 (T674I +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related disorder | |
| | CTNND1, TMX2-CTNND1 (Q467* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related disorder | |
| | CTNND1, TMX2-CTNND1 (Y201fs +2 more) | Deletion (non-coding transcript variant +1 more) | CTNND1-related disorder | |
| | CTNND1, TMX2-CTNND1 (S777F +8 more) | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related disorder | |
| | CTNND1, TMX2-CTNND1 (I346T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (L171P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (D28V +1 more) | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | 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 | |
| | CTNND1, TMX2-CTNND1 (K399Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (P109T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (V180M +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (M245I +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (A455S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R363H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BTBD18, TMX2-CTNND1 (P450L) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (E77Q) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (R65W) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (S513F) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (P619H) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (R295W) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (K378R) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (R15Q) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (splice donor variant) | Blepharocheilodontic syndrome 2 | |
| | CTNND1, TMX2-CTNND1 (S529F +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Blepharocheilodontic syndrome 2 | |
| | CTNND1, TMX2-CTNND1 (I595F +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (S251G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | 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 | |
| | SELENOH, TMX2-CTNND1 (G5W) | Single nucleotide variant (missense variant) | not specified | |
| | SELENOH, TMX2-CTNND1 (T42P) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (R295Q) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (A291T) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (K132R) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (V100L) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (G71S) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (V693A) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (G521R) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (I429V) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (M422T) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD18, TMX2-CTNND1 (G398R) | Single nucleotide variant (missense variant) | not specified | |
| | CTNND1, TMX2-CTNND1 (S266G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R252C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (A196V +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R148Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R82P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (D80G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (G162R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (T98A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (T39M +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (A10V) | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (N890D +5 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R778W +5 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R729W +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (I681V +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases | |
| | TMX2-CTNND1, CTNND1 (I698V +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TMX2-CTNND1, CTNND1 (A613V +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TMX2-CTNND1, CTNND1 (G13D +1 more) | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (Y596C +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (D636E +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (E322D +2 more) | Single nucleotide variant (non-coding transcript variant +1 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 | |
| | | Duplication (intron variant) | CTNND1-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | CTNND1-related disorder | |
| | CTNND1, TMX2-CTNND1 (T113P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | TMX2-related disorder | |
| | CTNND1, TMX2-CTNND1 (I108F +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related disorder | |
| | CTNND1, TMX2-CTNND1 (R186H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related disorder | |
| | | Single nucleotide variant (intron variant) | CTNND1-related disorder | |
| | | Single nucleotide variant (splice donor variant) | CTNND1-related disorder | |
| | CTNND1, TMX2-CTNND1 (R618W +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related disorder | |
| | | Single nucleotide variant (intron variant) | CTNND1-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related disorder | |
| | CTNND1, TMX2-CTNND1 (E266fs +2 more) | Duplication (non-coding transcript variant +1 more) | CTNND1-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 | |
| | TMX2-CTNND1, CTNND1 (V141I +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (P259L +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (M188V +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |