Variant | Impact | Inheritance pattern | Summary | Genomes |
---|---|---|---|---|
NDUFS1 C137X | insufficiently evaluated not reviewed | unknown | CGI sample GS01669-DNA_C07 from PGP sample 74521372 | |
NDUFS1 D194N | insufficiently evaluated none | unknown | ||
NDUFS1 M204T | insufficiently evaluated not reviewed, f=0.001 | unknown | var-GS19020-1100-36-ASM | |
NDUFS1 L231V | insufficiently evaluated pathogenic | unknown |
(18 web hits) | |
NDUFS1 R241W | insufficiently evaluated pathogenic | unknown |
(22 web hits) | |
NDUFS1 D252G | insufficiently evaluated pathogenic | unknown |
(23 web hits) | |
NDUFS1 R417S | insufficiently evaluated not reviewed | unknown | ||
NDUFS1 L431V | insufficiently evaluated not reviewed | unknown | CGI sample GS01173-DNA_A07 from PGP sample 96240009 | |
Total results: 8 |