| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (5 prime UTR variant) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (5 prime UTR variant) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (5 prime UTR variant) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (5 prime UTR variant) | Xeroderma pigmentosum | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | DDB2, LOC126861205 (E29fs) | Duplication (frameshift variant +1 more) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (missense variant +1 more) | Ovarian cancer | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Xeroderma pigmentosum, group E +2 more | GConflicting classifications of pathogenicity |
| | | 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) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (intron variant) | Xeroderma pigmentosum +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Variation (no sequence alteration) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | DDB2-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (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) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum, group E +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (synonymous variant +2 more) | Xeroderma pigmentosum | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | 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 | |
| | | Single nucleotide variant (intron variant) | Xeroderma pigmentosum | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Xeroderma pigmentosum | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Xeroderma pigmentosum | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Xeroderma pigmentosum | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (inframe_deletion +2 more) | Xeroderma pigmentosum, group E | |
| | | Microsatellite (nonsense +1 more) | Xeroderma pigmentosum, group E +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum | |
| | | Single nucleotide variant (synonymous variant +1 more) | Xeroderma pigmentosum | |
| | | Single nucleotide variant (synonymous variant +1 more) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (synonymous variant +2 more) | Xeroderma pigmentosum | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum, group E | |
| | | Single nucleotide variant (synonymous variant +1 more) | Xeroderma pigmentosum +1 more | GConflicting classifications of pathogenicity |