| | | Duplication (5 prime UTR variant +1 more) | Amelogenesis imperfecta type 1G | |
| | FAM20A, PRKAR1A (G283R +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | FAM20A, PRKAR1A (V376E +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | FAM20A-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (L357P +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | FAM20A, PRKAR1A (F306S +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | FAM20A, PRKAR1A (R299* +1 more) | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | FAM20A, PRKAR1A (S165fs +1 more) | Microsatellite (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Amelogenesis imperfecta type 1G | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | FAM20A-related disorder | |
| | | Single nucleotide variant (intron variant) | FAM20A-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | FAM20A, PRKAR1A (S534P +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FAM20A, PRKAR1A (L401V +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | FAM20A, PRKAR1A (D337N +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | FAM20A, PRKAR1A (G283R +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Amelogenesis imperfecta type 1G | |
| | | Single nucleotide variant (intron variant +1 more) | Amelogenesis imperfecta type 1G | |
| | | Single nucleotide variant (intron variant +1 more) | Amelogenesis imperfecta type 1G | |
| | FAM20A, PRKAR1A (E188del +1 more) | Deletion (inframe_deletion +2 more) | Amelogenesis imperfecta type 1G | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Amelogenesis imperfecta type 1G | |
| | | Deletion (frameshift variant +1 more) | Amelogenesis imperfecta type 1G | |
| | FAM20A, PRKAR1A (F266L +1 more) | Single nucleotide variant (missense variant +2 more) | Amelogenesis imperfecta type 1G +1 more | |
| | | Deletion | Carney complex, type 1 | |
| | FAM20A, PRKAR1A (R223H +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | FAM20A, PRKAR1A (T187M +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | FAM20A, PRKAR1A (L197R +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | FAM20A, PRKAR1A (C315R +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | PRKAR1A, FAM20A (A537V +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (R273Q +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (G331D +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FAM20A, PRKAR1A (R363K +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | FAM20A, PRKAR1A (L291P +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (M477I +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | PRKAR1A, FAM20A (P248S +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | PRKAR1A, FAM20A (A124D +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | FAM20A, PRKAR1A (L392S +1 more) | Inversion (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (K180R +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (G298R +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | FAM20A, PRKAR1A (I384T +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Duplication (inframe_insertion +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not provided | |