| | | Copy number loss | See cases | |
| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058535, LOC130058536 +916 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC125146383, LOC125146384 +556 more | Copy number gain | See cases | |
| | LOC105371046, LOC105371050 +842 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARHGDIG, ATP6V0C +482 more | Copy number gain | See cases | |
| | LOC130058149, LOC130058150 +925 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MAPK8IP3, MAPK8IP3-AS1 +88 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | EME2, LOC130058183 +3 more | Deletion | not provided | |
| | EME2, LOC130058183 +1 more (D103H) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058183 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | MRPS34-related disorder | |
| | EME2, LOC130058183 +1 more (L97F) | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial disease | |
| | EME2, LOC130058183 +1 more (W95G) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058183 +1 more (Y94H) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058183 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058183 +1 more (P92T) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058183 +1 more (W87S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | EME2, LOC130058183 +1 more (S84F) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058183 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058183 +1 more (L79R) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | EME2, LOC130058183 +1 more (R78C) | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | 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 (synonymous 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 32 +2 more | |
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation deficiency 32 +2 more | GPathogenic/Likely pathogenic |
| | | 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 (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058184 +1 more (R17P) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | EME2, LOC130058184 +1 more (E13K) | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 32 | |
| | EME2, LOC130058184 +1 more | Indel (missense variant +1 more) | not provided | |
| | EME2, LOC130058184 +1 more (R9Q) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | EME2, LOC130058184 +1 more (P8R) | Single nucleotide variant (missense variant) | not provided | |
| | EME2, LOC130058184 +1 more (P8A) | Indel (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058184 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | MRPS34-related disorder +1 more | |
| | EME2, LOC130058184 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | MRPS34-related disorder +1 more | |
| | EME2, LOC130058184 +1 more (K4R) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |