| | ANKRD66, C6orf201 +2580 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC123620117, LOC123620118 +324 more | Copy number loss | See cases | |
| | LOC132089385, LOC132089386 +221 more | Copy number loss | See cases | |
| | GTPBP2, LOC121132685 +27 more | Copy number gain | See cases | |
| | LOC129996520, POLH +1 more | Single nucleotide variant (intron variant) | Xeroderma pigmentosum variant type | |
| | LOC129996520, POLH +1 more | Single nucleotide variant (intron variant) | Xeroderma pigmentosum variant type | |
| | | Single nucleotide variant (intron variant) | Xeroderma pigmentosum variant type | |
| | LOC129996520, POLH +1 more | Single nucleotide variant (intron variant) | Xeroderma pigmentosum variant type | |
| | | Single nucleotide variant (5 prime UTR variant) | Xeroderma pigmentosum variant type | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum variant type | |
| | LOC129996521, POLH +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum variant type | |
| | LOC129996521, POLH +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum variant type | |
| | LOC129996521, POLH +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum variant type | |
| | LOC129996521, POLH +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum variant type | |
| | LOC129996521, POLH +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum variant type | |
| | LOC129996521, POLH +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum variant type | |
| | LOC129996521, POLH +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum variant type | |
| | LOC129996521, POLH +1 more | Single nucleotide variant (5 prime UTR variant) | Xeroderma pigmentosum variant type | |
| | LOC129996521, POLH +1 more | Deletion (5 prime UTR variant +1 more) | Xeroderma pigmentosum | |
| | LOC129996521, POLH +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum variant type | |
| | POLR1C, LOC129996521 +1 more | Single nucleotide variant (intron variant) | Xeroderma pigmentosum +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum variant type | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum variant type | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum variant type | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Xeroderma pigmentosum variant type | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Xeroderma pigmentosum variant type | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (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 | |
| | | Duplication (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 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | POLR1C, POLH (M63I +1 more) | Single nucleotide variant (missense variant) | Xeroderma pigmentosum variant type | |
| | POLH, POLR1C (A68fs +1 more) | Duplication (frameshift variant +1 more) | not provided | |
| | POLH, POLR1C (K70fs +1 more) | Deletion (frameshift variant +1 more) | Xeroderma pigmentosum variant type | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | POLH, POLR1C (K70N +1 more) | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum | |
| | POLR1C, POLH (L77del +1 more) | Microsatellite (inframe_deletion) | Xeroderma pigmentosum variant type | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Xeroderma pigmentosum variant type +1 more | GConflicting classifications of pathogenicity |
| | POLH, POLR1C (A78T +1 more) | Single nucleotide variant (nonsense +2 more) | Xeroderma pigmentosum variant type | |
| | POLH, POLR1C (P32S +1 more) | Single nucleotide variant (missense variant) | Xeroderma pigmentosum variant type | |
| | POLH, POLR1C (R84H +1 more) | Single nucleotide variant (missense variant) | Xeroderma pigmentosum variant type | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Xeroderma pigmentosum variant type | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (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 | |
| | | 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 (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum variant type | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Duplication (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |