| | | Copy number loss | See cases | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | LOC129936198, LOC129936199 +647 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129936421, LOC129936422 +962 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120630, LOC111429626 +608 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARPC4, ARPC4-TTLL3 +307 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +190 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +146 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +81 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +118 more | Copy number loss | See cases | |
| | LOC401052, MTMR14 +47 more | Copy number loss | See cases | |
| | ARPC4, ARPC4-TTLL3 +63 more | Copy number loss | See cases | |
| | ATP2B2, ATP2B2-IT1 +58 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group D2 | |
| | | Deletion | Fanconi anemia | |
| | | Deletion | Fanconi anemia | |
| | | Single nucleotide variant (5 prime UTR variant) | Fanconi anemia complementation group D2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia complementation group D2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fanconi anemia +1 more | |
| | | Duplication (frameshift variant) | Fanconi anemia complementation group D2 | |
| | | Deletion (frameshift variant) | Fanconi anemia | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | | Deletion (splice donor variant) | Fanconi anemia | |
| | | Single nucleotide variant (splice donor variant) | Fanconi anemia +1 more | |
| | | Deletion (intron variant) | Fanconi anemia | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group D2 +4 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia | |
| | | Single nucleotide variant (splice acceptor variant) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (splice acceptor variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (R24G) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (K25R) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (Q26P) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (Q26H) | Single nucleotide variant (missense variant) | Fanconi anemia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (K31fs) | Deletion (frameshift variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (K30R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FANCD2, LOC107303338 (K34fs) | Duplication (frameshift variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (T32I) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (K33fs) | Deletion (frameshift variant) | Fanconi anemia +1 more | |
| | FANCD2, LOC107303338 (K34E) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (S35P) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (H36R) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (E40K) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (V41A) | Single nucleotide variant (missense variant) | Fanconi anemia +1 more | |
| | FANCD2, LOC107303338 (E42G) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (N44S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FANCD2, LOC107303338 (I47V) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (I47M) | Single nucleotide variant (missense variant) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (F48L) | Single nucleotide variant (missense variant) | Fanconi anemia +2 more | GConflicting classifications of pathogenicity |
| | FANCD2, LOC107303338 (V49G) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (I58V) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (T61M) | Single nucleotide variant (missense variant) | Fanconi anemia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (E63fs) | Microsatellite (frameshift variant) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (E63K) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (S64fs) | Deletion (frameshift variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (Q65*) | Single nucleotide variant (nonsense) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (Q65H) | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia | |
| | | Single nucleotide variant (splice donor variant) | Fanconi anemia | |
| | | Deletion (splice donor variant) | Fanconi anemia | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |