| | FANCD2, LOC107303338 (E890* +1 more) | Indel (nonsense) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (P526fs) | Deletion (frameshift variant +1 more) | Fanconi anemia complementation group D2 +1 more | GPathogenic/Likely pathogenic |
| | FANCD2, LOC107303338 (Q681* +1 more) | Single nucleotide variant (nonsense) | Fanconi anemia complementation group D2 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (R530*) | Single nucleotide variant (nonsense +1 more) | Fanconi anemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, FANCD2OS (Y1230fs +1 more) | Microsatellite (frameshift variant +1 more) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (Q440*) | Single nucleotide variant (nonsense) | Fanconi anemia complementation group D2 | |
| | FANCD2, FANCD2OS (K1062fs +1 more) | Deletion (frameshift variant +1 more) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (S130fs) | Deletion (frameshift variant) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (splice acceptor variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (Q76fs) | Duplication (frameshift variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, FANCD2OS (N1048fs +1 more) | Deletion (frameshift variant +1 more) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (Q470*) | Single nucleotide variant (nonsense) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (Q525* +1 more) | Single nucleotide variant (nonsense) | Fanconi anemia complementation group D2 +1 more | GPathogenic/Likely pathogenic |
| | FANCD2, LOC107303338 (Q560fs +1 more) | Deletion (frameshift variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (Y103*) | Single nucleotide variant (nonsense) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (Y647* +1 more) | Single nucleotide variant (nonsense) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (E585* +1 more) | Single nucleotide variant (nonsense) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (D221fs) | Duplication (frameshift variant) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (splice donor variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (L612fs +1 more) | Deletion (frameshift variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (Q589* +1 more) | Single nucleotide variant (nonsense) | Fanconi anemia complementation group D2 +1 more | GPathogenic/Likely pathogenic |
| | FANCD2, LOC107303338 (C856fs +1 more) | Deletion (frameshift variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (R174*) | Single nucleotide variant (nonsense) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (T877fs +1 more) | Duplication (frameshift variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (Q65*) | Single nucleotide variant (nonsense) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (S352fs) | Duplication (frameshift variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (K836fs +1 more) | Deletion (frameshift variant) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (splice acceptor variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (Y103*) | Duplication (nonsense) | Fanconi anemia complementation group D2 | |
| | FANCD2, FANCD2OS (L1330* +2 more) | Single nucleotide variant (nonsense +1 more) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (I282fs) | Duplication (frameshift variant) | Fanconi anemia complementation group D2 | |
| | | Microsatellite (splice acceptor variant +1 more) | Fanconi anemia complementation group D2 | |
| | FANCD2, FANCD2OS (W1038* +1 more) | Single nucleotide variant (nonsense +1 more) | Fanconi anemia complementation group D2 | |
| | FANCD2, FANCD2OS (G1064fs +1 more) | Deletion (frameshift variant +1 more) | Fanconi anemia complementation group D2 | |
| | FANCD2, FANCD2OS (L1327fs +2 more) | Deletion (frameshift variant +1 more) | Fanconi anemia +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Fanconi anemia +1 more | GPathogenic/Likely pathogenic |
| | FANCD2, LOC107303338 (Y103*) | Single nucleotide variant (nonsense) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (Q223fs) | Deletion (frameshift variant) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (splice acceptor variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (T837fs +1 more) | Duplication (frameshift variant) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (R889* +1 more) | Single nucleotide variant (nonsense) | FANCD2-related disorder +2 more | GPathogenic/Likely pathogenic |
| | FANCD2, LOC107303338 (R408L) | Single nucleotide variant (missense variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (L725V +1 more) | Single nucleotide variant (missense variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (G540S +1 more) | Single nucleotide variant (missense variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, LOC107303338 (S542N) | Single nucleotide variant (missense variant +1 more) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Fanconi anemia +1 more | |
| | FANCD2, LOC107303338 (C746F +1 more) | Single nucleotide variant (missense variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, FANCD2OS (M1201K +1 more) | Single nucleotide variant (missense variant +1 more) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group D2 | |
| | FANCD2, FANCD2OS (Q1076* +1 more) | Single nucleotide variant (nonsense +1 more) | Fanconi anemia complementation group D2 | |
| | FANCD2, FANCD2OS (E1396K +1 more) | Single nucleotide variant (missense variant +1 more) | Fanconi anemia complementation group D2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia +1 more | |
| | FANCD2, FANCD2OS (N1351S +2 more) | Single nucleotide variant (missense variant +1 more) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia +1 more | |
| | FANCD2, LOC107303338 (Y534F) | Single nucleotide variant (missense variant +1 more) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (splice acceptor variant) | Fanconi anemia complementation group D2 | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia +2 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia +2 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group D2 +1 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group D2 +1 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group D2 +1 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group D2 +1 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group D2 +1 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group D2 +1 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (splice donor variant) | Fanconi anemia +1 more | |
| | FANCD2, LOC107303338 (A799D +1 more) | Single nucleotide variant (missense variant) | Fanconi anemia complementation group D2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia complementation group D2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Fanconi anemia complementation group D2 +1 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group D2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia +1 more | GConflicting classifications of pathogenicity |
| | FANCD2, FANCD2OS (H1070R +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia +1 more | |
| | FANCD2, LOC107303338 (G339S) | Single nucleotide variant (missense variant) | Fanconi anemia complementation group D2 +2 more | GConflicting classifications of pathogenicity |
| | FANCD2, LOC107303338 (I536T +1 more) | Single nucleotide variant (missense variant) | Fanconi anemia +1 more | |
| | FANCD2, LOC107303338 (R328*) | Single nucleotide variant (nonsense) | Fanconi anemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Fanconi anemia +1 more | GConflicting classifications of pathogenicity |
| | FANCD2, LOC107303338 (Q586* +1 more) | Indel (nonsense) | Fanconi anemia +1 more | GPathogenic/Likely pathogenic |
| | FANCD2, FANCD2OS (I1203F +1 more) | Single nucleotide variant (missense variant +1 more) | Fanconi anemia +1 more | |
| | FANCD2, FANCD2OS (I1141V +1 more) | Single nucleotide variant (missense variant +1 more) | Fanconi anemia +1 more | |
| | FANCD2, FANCD2OS (R1099G +1 more) | Single nucleotide variant (missense variant +1 more) | Fanconi anemia +1 more | |
| | FANCD2, FANCD2OS (V1293I +1 more) | Single nucleotide variant (missense variant +1 more) | Fanconi anemia +2 more | GConflicting classifications of pathogenicity |
| | FANCD2, FANCD2OS (E1360K +2 more) | Single nucleotide variant (missense variant +1 more) | Fanconi anemia complementation group D2 +1 more | |
| | FANCD2, LOC107303338 (L270V) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group D2 +1 more | |
| | FANCD2, LOC107303338 (I412T) | Single nucleotide variant (missense variant) | Fanconi anemia +1 more | |
| | FANCD2, LOC107303338 (H86Y) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | FANCD2, FANCD2OS (S1257L +1 more) | Single nucleotide variant (missense variant +1 more) | Fanconi anemia +1 more | |
| | FANCD2, LOC107303338 (T877I +1 more) | Single nucleotide variant (missense variant) | Fanconi anemia complementation group D2 +1 more | |