| | LOC112533659, LOC112533660 +2032 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129390924, LOC129390925 +59 more | Copy number loss | See cases | |
| | | Deletion | Amelogenesis imperfecta type 1G | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (L401V +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | FAM20A, PRKAR1A (A537V +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (S534P +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | FAM20A, PRKAR1A (L392S +1 more) | Inversion (missense variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (L530S +1 more) | Single nucleotide variant (missense variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | 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 | |
| | FAM20A, PRKAR1A (V376E +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | FAM20A, PRKAR1A (T366I +1 more) | Single nucleotide variant (missense variant +2 more) | Acrodysostosis +2 more | |
| | FAM20A, PRKAR1A (R363K +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (L357P +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (T353I +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | FAM20A, PRKAR1A (E345fs +1 more) | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | FAM20A, PRKAR1A (R478* +1 more) | Single nucleotide variant (nonsense +2 more) | Amelogenesis imperfecta type 1G | |
| | FAM20A, PRKAR1A (M477I +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | FAM20A, PRKAR1A (D337N +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (L460F +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (T321fs +1 more) | Deletion (frameshift 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | Amelogenesis imperfecta type 1G | |
| | FAM20A, PRKAR1A (C315R +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | Amelogenesis imperfecta type 1G +2 more | |
| | FAM20A, PRKAR1A (R299* +1 more) | Single nucleotide variant (nonsense +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 | |
| | | Single nucleotide variant (intron variant) | 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 (intron variant) | Amelogenesis imperfecta type 1G | |
| | FAM20A, PRKAR1A (A294S +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | FAM20A, PRKAR1A (A432T +1 more) | Single nucleotide variant (missense variant +2 more) | Amelogenesis imperfecta type 1G +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (L291P +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | FAM20A, PRKAR1A (G283R +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (Y276H +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 | |
| | FAM20A, PRKAR1A (R273W +1 more) | Single nucleotide variant (missense variant +2 more) | Amelogenesis imperfecta type 1G | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | 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 (intron variant) | not provided | |
| | | Microsatellite (intron variant +1 more) | Amelogenesis imperfecta type 1G | |
| | FAM20A, PRKAR1A (F266L +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (R392fs +1 more) | Deletion (frameshift variant +2 more) | Amelogenesis imperfecta type 1G | |
| | FAM20A, PRKAR1A (R392Q +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | FAM20A, PRKAR1A (R254W +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (S252N +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | PRKAR1A, FAM20A (N251S +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Indel (intron variant) | Amelogenesis imperfecta type 1G | |
| | | Single nucleotide variant (intron variant) | FAM20A-related disorder | |
| | | Microsatellite (intron variant +1 more) | not provided | |
| | FAM20A, PRKAR1A (L365P +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | FAM20A, PRKAR1A (R223H +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (R214K +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (G338S +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (L197R +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | FAM20A, PRKAR1A (N332K +1 more) | Single nucleotide variant (missense variant +2 more) | not specified +2 more | |
| | FAM20A, PRKAR1A (G331D +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | |
| | FAM20A, PRKAR1A (E188del +1 more) | Deletion (inframe_deletion +2 more) | Amelogenesis imperfecta type 1G | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | FAM20A, PRKAR1A (T187M +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | FAM20A, PRKAR1A (K180R +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |