| | | 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 | |
| | | Duplication | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Duplication | Tuberous sclerosis 2 | |
| | | Duplication | Epilepsy +2 more | |
| | EME2, LOC130058183 +1 more (L79R) | 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 (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 specified | |
| | EME2, LOC130058183 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | MRPS34-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058183 +3 more | Deletion | not provided | |
| | EME2, LOC130058184 +1 more | Indel (missense variant +1 more) | not provided | |
| | EME2, LOC130058183 +1 more (W95G) | 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 | Single nucleotide variant (5 prime UTR variant +1 more) | MRPS34-related disorder +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | EME2, LOC130058183 +1 more (L97F) | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial disease | |
| | | 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 | |
| | | Copy number loss | 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 (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Deletion | Hyperaldosteronism, familial, type IV +1 more | |
| | | Deletion | not provided | |
| | | Duplication | Hyperaldosteronism, familial, type IV +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | EME2, LOC130058184 +1 more (R9Q) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | 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 (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | 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 (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | 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 (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058183 +1 more (S84F) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | EME2, LOC130058184 +1 more (K4R) | 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 (R78C) | 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 | |
| | | 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 provided +1 more | |
| | EME2, LOC130058184 +1 more (R17P) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | EME2, LOC130058184 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | MRPS34-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | EME2, LOC130058183 +1 more (W87S) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058183 +1 more (D103H) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058184 +1 more (P8A) | Indel (5 prime UTR variant +1 more) | not provided | |
| | EME2, LOC130058183 +1 more (Y94H) | 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 +1 more | |
| | | Copy number gain | not provided | |
| | | Duplication | Epilepsy +2 more | |
| | EME2, LOC130058184 +1 more (P8R) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Tuberous sclerosis 2 | |
| | | Duplication | Idiopathic generalized epilepsy +1 more | |
| | | Deletion | Tuberous sclerosis 2 | |
| | | Deletion | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |