| | LOC121466733, LOC121468000 +2048 more | Copy number loss | See cases | |
| | LOC130010147, LOC130010148 +2049 more | Copy number gain | See cases | |
| | LOC130009360, LOC130009361 +2047 more | Copy number gain | See cases | |
| | LOC130009909, LOC130009910 +2044 more | Copy number gain | See cases | |
| | LINC00333, LINC00343 +2045 more | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2040 more | Copy number gain | See cases | |
| | LOC121838573, LOC121838574 +2028 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00462, LINC00463 +2021 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LINC00550, LINC00552 +1268 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130010067, LOC130010068 +344 more | Copy number gain | See cases | |
| | LOC132090867, MBNL2 +663 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009970, LOC130009971 +638 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130010039, LOC130010040 +369 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124946325, LOC124946326 +271 more | Copy number loss | See cases | |
| | BIVM, BIVM-ERCC5 +184 more | Copy number gain | See cases | |
| | | Copy number loss | Holoprosencephaly 5 | |
| | | Copy number gain | See cases | |
| | LOC132090158, LOC132090159 +395 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130010172, LOC130010173 +367 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GAS6-AS1, GAS6-DT +363 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | 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 +1 more | |
| | | Single nucleotide variant (intron variant) | Xeroderma pigmentosum +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Xeroderma pigmentosum, group G | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Xeroderma pigmentosum, group G | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum, group G | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum, group G | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum, group G | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum, group G | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Xeroderma pigmentosum, group G +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Ovarian cancer | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum, group G | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | ERCC5-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum, group G | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | 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) | not provided +1 more | |
| | BIVM-ERCC5, ERCC5 (I31T +1 more) | Single nucleotide variant (missense variant) | Ovarian cancer | |
| | BIVM-ERCC5, ERCC5 (R43W +1 more) | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | BIVM-ERCC5, ERCC5 (R43Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | BIVM-ERCC5, ERCC5 (H508Y +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ERCC5, BIVM-ERCC5 (L519F +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | BIVM-ERCC5, ERCC5 (F521C +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | BIVM-ERCC5, ERCC5 (R523* +1 more) | Single nucleotide variant (nonsense) | Xeroderma pigmentosum, group G | |
| | BIVM-ERCC5, ERCC5 (R71C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | BIVM-ERCC5, ERCC5 (R71H +1 more) | Single nucleotide variant (missense variant) | Xeroderma pigmentosum, group G | |
| | BIVM-ERCC5, ERCC5 (P72H +1 more) | Single nucleotide variant (missense variant) | Xeroderma pigmentosum group G/Cockayne syndrome | |
| | | Single nucleotide variant (synonymous variant) | Xeroderma pigmentosum, group G | |
| | | Deletion (splice donor variant) | ERCC5-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Microsatellite (intron variant) | not provided | |
| | BIVM-ERCC5, ERCC5 (R546W +1 more) | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | BIVM-ERCC5, ERCC5 (D550fs +1 more) | Deletion (frameshift variant) | ERCC5-related disorder | |
| | BIVM-ERCC5, ERCC5 (A98V +1 more) | Single nucleotide variant (missense variant) | Xeroderma pigmentosum, group G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Xeroderma pigmentosum, group G +1 more | GConflicting classifications of pathogenicity |
| | BIVM-ERCC5, ERCC5 (T105M +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | BIVM-ERCC5, ERCC5 (K108fs +1 more) | Deletion (frameshift variant) | Xeroderma pigmentosum, group G | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | BIVM-ERCC5, ERCC5 (R570fs +1 more) | Deletion (frameshift variant) | Xeroderma pigmentosum-Cockayne syndrome complex | |
| | BIVM-ERCC5, ERCC5 (T121I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |