| | LOC111365169, LOC111365189 +833 more | Copy number gain | See cases | |
| | MIR6869, MIR6870 +828 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Renal agenesis | |
| | LOC130065416, LOC130065417 +579 more | Copy number gain | See cases | |
| | LOC126862999, LOC126863005 +814 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065566, LOC130065567 +2522 more | Copy number gain | See cases | |
| | LOC130065426, LOC130065427 +87 more | Copy number gain | See cases | |
| | LOC130065574, LOC130065575 +950 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ESF1, LOC113939992 +8 more | Copy number gain | See cases | |
| | ESF1, LOC113939992 +5 more | 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 (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | NDUFAF5-related condition +1 more | |
| | LOC130065433, NDUFAF5 (M1L) | Single nucleotide variant (missense variant +3 more) | not provided | |
| | LOC130065433, NDUFAF5 (M1L) | Single nucleotide variant (missense variant +3 more) | not provided | |
| | LOC130065433, NDUFAF5 (M1I) | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | NDUFAF5-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (W8*) | Single nucleotide variant (nonsense +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC130065433, NDUFAF5 (W8*) | Single nucleotide variant (nonsense +2 more) | Mitochondrial complex 1 deficiency, nuclear type 16 +1 more | |
| | NDUFAF5, LOC130065433 (R9G) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (L10fs) | Indel (frameshift variant +2 more) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (C11fs) | Deletion (non-coding transcript variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC130065433, NDUFAF5 (L10*) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (L10F) | Single nucleotide variant (5 prime UTR variant +2 more) | Leigh syndrome | |
| | LOC130065433, NDUFAF5 (C11*) | Single nucleotide variant (nonsense +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (R12W) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | LOC130065433, NDUFAF5 (R13*) | Single nucleotide variant (nonsense +2 more) | Mitochondrial complex 1 deficiency, nuclear type 16 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (P14A) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (P14L) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (W15fs) | Deletion (frameshift variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (W15*) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC130065433, NDUFAF5 (A16fs) | Deletion (frameshift variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (A17fs) | Deletion (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (G25R) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (V29fs) | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (V29fs) | Indel (frameshift variant +2 more) | Mitochondrial complex 1 deficiency, nuclear type 16 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (T30N) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (T30I) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (S31F) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (R36fs) | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (R36P) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (S38R) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (N45K) | Single nucleotide variant (5 prime UTR variant +2 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (D48E) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (R49G) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC130065433, NDUFAF5 (R49L) | Single nucleotide variant (5 prime UTR variant +2 more) | Mitochondrial complex 1 deficiency, nuclear type 16 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (K52T) | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 1 deficiency, nuclear type 16 +1 more | |
| | LOC130065433, NDUFAF5 (K56fs) | Deletion (frameshift variant +2 more) | Mitochondrial complex 1 deficiency, nuclear type 16 +1 more | GPathogenic/Likely pathogenic |
| | LOC130065433, NDUFAF5 (R61fs) | Duplication (frameshift variant +2 more) | not provided | |
| | LOC130065433, NDUFAF5 (W58G) | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 1 deficiency, nuclear type 16 | |
| | LOC130065433, NDUFAF5 (E64fs) | Microsatellite (non-coding transcript variant +2 more) | Mitochondrial complex 1 deficiency, nuclear type 16 +1 more | GPathogenic/Likely pathogenic |