| | LOC105372173, LOC105372179 +1646 more | Copy number gain | See cases | |
| | LOC105372069, LOC105372071 +1643 more | Copy number gain | See cases | |
| | LOC121852961, LOC121852962 +1643 more | Copy number gain | See cases | |
| | LOC130062369, LOC130062370 +1643 more | Copy number gain | See cases | |
| | LOC130062321, LOC130062322 +1643 more | Copy number gain | See cases | |
| | LOC130062687, LOC130062688 +1642 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062768, LOC130062769 +1642 more | Copy number gain | See cases | |
| | LOC130062608, LOC130062609 +1266 more | Copy number gain | See cases | |
| | LOC130062514, LOC130062515 +1089 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01902, LINC01903 +1005 more | Copy number gain | See cases | |
| | LOC126862765, LOC126862766 +596 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062712, LOC130062713 +879 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062692, LOC130062693 +664 more | Copy number loss | See cases | |
| | LOC130062661, LOC130062662 +340 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC114803473, LOC116276491 +636 more | Copy number loss | See cases | |
| | LOC130062739, LOC130062740 +636 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062684, LOC130062685 +602 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062577, LOC130062578 +87 more | Duplication | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | NARS1-related condition | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | NARS1-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | |
| | | Single nucleotide variant (missense variant) | NARS1-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |