| | LOC123477714, LOC123477715 +1267 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | LOC129992439, LOC129992440 +1039 more | Copy number gain | See cases | |
| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992261, LOC129992262 +962 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (stop lost) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | RFC1-related condition +1 more | |
| | | Single nucleotide variant (splice donor variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (synonymous variant) | RFC1-related condition | |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | 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 (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | RFC1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | RFC1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | RFC1-related condition | |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome | |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | RFC1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (nonsense) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | RFC1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | RFC1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | RFC1-related condition | |
| | | Microsatellite | Parkinson disease, late-onset | |
| | | Microsatellite (intron variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Microsatellite | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Indel | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | RFC1-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Indel | Parkinson disease | |
| | | Copy number gain | See cases | |
| | | Copy number gain | FETAL DEMISE | |
| | | Copy number gain | not specified | |
| | | Duplication | Lipoic acid synthetase deficiency | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |