| FANCD2 Q65H | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19704-1100-36-ASM |
| FANCD2 I172M | insufficiently evaluated not reviewed, f=0.024 | unknown |
| var-GS19703-1100-36-ASM |
| FANCD2 R302W | insufficiently evaluated pathogenic | unknown |
(16 web hits) | |
| FANCD2 Q320X | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| FANCD2 N405S | insufficiently evaluated none, f=0.231 | unknown |
(1 web hit) | CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| FANCD2 S455G | insufficiently evaluated not reviewed | unknown |
| |
| FANCD2 L456R | insufficiently evaluated pathogenic, f=0.035 | recessive | This variant was found in two African American siblings as part of a compound heterozgyote (with R253X) with Fanconi Anemia D2, but a lack of information on the variant allele frequency in controls means significance cannot be assessed.
(13 web hits) | var-GS19703-1100-36-ASM |
| FANCD2 Q623P | insufficiently evaluated none, f=0.028 | unknown |
| var-GS18502-1100-36-ASM |
| FANCD2 L686P | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| FANCD2 P714L | insufficiently evaluated none, f=0.142 | unknown |
(7 web hits) | CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom) |
| FANCD2 Q802H | insufficiently evaluated none, f=0.007 | unknown |
| |
| FANCD2 G901V | insufficiently evaluated not reviewed, f=0.026 | unknown |
| CGI sample GS00253-DNA_E01_200_37 |
| FANCD2 P983A | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19020-1100-36-ASM |
| FANCD2 R1236H | insufficiently evaluated pathogenic | unknown |
(14 web hits) | |