| | 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 | |
| | | 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 | |
| | 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 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | 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 | |
| | 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 | |
| | 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 | |
| | CTNND1, TMX2-CTNND1 (E735del +5 more) | Microsatellite (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (R596C +5 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | CTNND1, TMX2-CTNND1 (Q601H +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (I465T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R696Q +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R547Q +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (D518H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (P268S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (T372N +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (R483Q +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (I608R +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (M67T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (N606S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (M866L +8 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (D525E +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (A631V +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (P559S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | CTNND1, TMX2-CTNND1 (Y546N +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (T10A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R161C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (N807S +8 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R338C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (V771A +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (Q547R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R205G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (R360* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (Y190N +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (N702K +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (Y758C +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (P105S +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (R342C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R136H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R161S +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (G736E +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (P136fs +2 more) | Duplication (non-coding transcript variant +1 more) | Blepharocheilodontic syndrome 2 | |
| | CTNND1, TMX2-CTNND1 (T374A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CTNND1, TMX2-CTNND1 (H404Y +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (S115* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Blepharocheilodontic syndrome 2 | |
| | CTNND1, TMX2-CTNND1 (A200S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R647H +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R68W +1 more) | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | CTNND1, TMX2-CTNND1 (E164D +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R252H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (S117A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R186Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TMX2-CTNND1, CTNND1 (R136C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (A10P) | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases | |