| | | Single nucleotide variant (synonymous variant) | CCND1-related condition | |
| | | Microsatellite (inframe_indel +1 more) | CCND1-related condition | |
| | | Single nucleotide variant (synonymous variant) | CCND1-related condition | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CCND1, LOC130006292 (D129fs) | Indel (frameshift variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | Aicardi-Goutieres syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | CCND1-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | Intellectual disability | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CHORDC1, CHRDL2 +1293 more | Copy number gain | not provided | |
| | AAMDC, AASDHPPT +1292 more | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | LOC130006238, LOC130006239 +184 more | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant) | CCND1-related condition +1 more | |