| | | Duplication (intron variant) | CTNND1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | CTNND1-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | CTNND1-related condition | |
| | CTNND1, TMX2-CTNND1 (T113P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related condition | |
| | CTNND1, TMX2-CTNND1 (I108F +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related condition | |
| | CTNND1, TMX2-CTNND1 (R186H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related condition | |
| | | Single nucleotide variant (intron variant) | CTNND1-related condition | |
| | | Single nucleotide variant (splice donor variant) | CTNND1-related condition | |
| | CTNND1, TMX2-CTNND1 (R618W +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related condition | |
| | | Single nucleotide variant (intron variant) | CTNND1-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related condition | |
| | CTNND1, TMX2-CTNND1 (E266fs +2 more) | Duplication (frameshift variant +1 more) | CTNND1-related condition | |
| | CTNND1, TMX2-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 (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related condition +1 more | |
| | CTNND1, TMX2-CTNND1 (Q601H +5 more) | Single nucleotide variant (missense 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) | Blepharocheilodontic syndrome 2 +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 (non-coding transcript 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 | |
| | TMX2-CTNND1, 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 (missense variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R252H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TMX2-CTNND1, 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 | |
| | CTNND1, TMX2-CTNND1 (R136C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TMX2-CTNND1, CTNND1 (A10P) | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (Q746R +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R215W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TMX2-CTNND1, CTNND1 (A395G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TMX2-CTNND1, CTNND1 (P545A +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TMX2-CTNND1, CTNND1 (D842Y +8 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (Q49R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TMX2-CTNND1, CTNND1 (N331S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (A39V) | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (P653S +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TMX2-CTNND1, CTNND1 (G67R +1 more) | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (G189V +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (P575S +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R491W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (R530G +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | CTNND1, TMX2-CTNND1 (A749P +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (S383* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (R791L +8 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (G244R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CTNND1, TMX2-CTNND1 (V356A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (R243* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Blepharocheilodontic syndrome 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Blepharocheilodontic syndrome 2 | |
| | CTNND1, TMX2-CTNND1 (E638* +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Blepharocheilodontic syndrome 2 | |
| | CTNND1, TMX2-CTNND1 (N484fs +2 more) | Deletion (frameshift variant +1 more) | Blepharocheilodontic syndrome 2 | |
| | CTNND1, TMX2-CTNND1 (S777Y +8 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | CTNND1, TMX2-CTNND1 (D50H) | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (T137I +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (L433V +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (C293R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (R690* +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | CTNND1, TMX2-CTNND1 (I108T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CTNND1, TMX2-CTNND1 (R787K +8 more) | Single nucleotide variant (non-coding transcript variant +1 more) | CTNND1-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |