| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | LYRM4-related condition | |
| | | Duplication (intron variant) | LYRM4-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | LYRM4-related condition | |
| | | Single nucleotide variant (intron variant) | LYRM4-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not provided | |
| | | Deletion | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (C333R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (A29G) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (R251P) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion | Combined oxidative phosphorylation defect type 14 | |
| | LYRM4, LYRM4-AS1 +1 more (A6E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (P121Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (L190H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion | Combined oxidative phosphorylation defect type 14 | |
| | | Deletion | Combined oxidative phosphorylation defect type 14 | |
| | FARS2, LOC129995672 +1 more (R14W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FARS2, LOC129995672 +1 more (L12V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (V145L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (P30R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (A126T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (E278D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (D40N) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (P307S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (L54V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (H301N) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (V263L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (Y331C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (H147L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (V186M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (P312L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (G110D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (P67S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (R83H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (P189R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (G178A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4, LYRM4-AS1 +1 more (A352T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LYRM4-AS1, LYRM4 +1 more (P204R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not provided | |
| | FARS2, LOC129995672 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | FARS2, LOC129995672 +1 more (Y13fs) | Deletion (frameshift variant +1 more) | not provided | |
| | FARS2, LOC129995672 +1 more (A3V) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion | Combined oxidative phosphorylation defect type 14 | |
| | | Duplication | Combined oxidative phosphorylation defect type 14 | |
| | | Duplication | Combined oxidative phosphorylation defect type 14 | |
| | FARS2, LOC129995672 +1 more (A7T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Deletion (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | FARS2, LOC129995672 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | FARS2, LOC129995672 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | FARS2, LOC129995672 +1 more | Duplication (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | FARS2, LOC129995672 +1 more | 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) | not provided | |
| | LYRM4, LOC129995672 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 19 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | FARS2, LOC129995672 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number loss | not provided | |