| | LOC130001539, LOC130001540 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839508, LOC113839509 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001667, LOC130001668 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116186942, LOC116186943 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121366033, LOC121366034 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003132, LOC130003133 +1210 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003057, LOC130003058 +656 more | Copy number gain | See cases | |
| | LOC130003026, LOC130003027 +530 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390118, LOC130002920 +439 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003077, LOC130003078 +405 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC124375251, LOC126860788 +265 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 36 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | MRPS2-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | MRPS2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | MRPS2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 36 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | MRPS2-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | MRPS2-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Combined oxidative phosphorylation deficiency 36 | |
| | LOC101928525, MRPS2 (P104L) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | LOC101928525, MRPS2 (R110C) | Single nucleotide variant (non-coding transcript variant +1 more) | Combined oxidative phosphorylation deficiency 36 | |
| | LOC101928525, MRPS2 (R110H) | Single nucleotide variant (non-coding transcript variant +1 more) | MRPS2-related disorder | |
| | LOC101928525, MRPS2 (D112G) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (D114N) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 36 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (H134Y) | Single nucleotide variant (non-coding transcript variant +1 more) | Combined oxidative phosphorylation deficiency 36 | |
| | LOC101928525, MRPS2 (R138H) | Single nucleotide variant (non-coding transcript variant +1 more) | Combined oxidative phosphorylation deficiency 36 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (R147H) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (M158V) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC101928525, MRPS2 (R160C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101928525, MRPS2 (R160H) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC101928525, MRPS2 (E164K) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 36 | |
| | | Single nucleotide variant (synonymous variant +1 more) | MRPS2-related disorder | |
| | LOC101928525, MRPS2 (A166T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (R169C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101928525, MRPS2 (A179T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101928525, MRPS2 (A179V) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (R180C) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | LOC101928525, MRPS2 (R180H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101928525, MRPS2 (P185H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (R188H) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | MRPS2, LOC101928525 (P190L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | LOC101928525, MRPS2 (I193V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101928525, MRPS2 (T198M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (V207L) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC101928525, MRPS2 (A212T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (N226S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (T233S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101928525, MRPS2 (G238S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101928525, MRPS2 (N239Y) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (S242C) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (P243L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (L244R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101928525, MRPS2 (A245S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC101928525, MRPS2 (H247R) | Single nucleotide variant (missense variant +1 more) | not provided | |