| | LOC130065566, LOC130065567 +2522 more | Copy number gain | See cases | |
| | LOC125387319, LOC125387320 +1024 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANKRD60, APCDD1L +175 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066376, LOC130066377 +464 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR 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) | GNAS-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Pseudohypoparathyroidism type I A | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Duplication (5 prime UTR variant +1 more) | GNAS-related condition +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Duplication (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Microsatellite (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Duane retraction syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | | Duplication (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) | Pseudohypoparathyroidism type 1B | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | 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) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Duplication (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | 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) | McCune-Albright syndrome +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Pseudohypoparathyroidism type 1B +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Microsatellite (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Duane retraction syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GNAS-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Pseudohypoparathyroidism type 1B | |