| | | Copy number gain | See cases | |
| | LOC130063608, LOC130063609 +484 more | Copy number gain | See cases | |
| | LOC130063636, LOC130063637 +434 more | Copy number loss | See cases | |
| | LOC130064390, LOC130064391 +2135 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130063796, LOC130063797 +351 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | FARSA-related condition | |
| | | Single nucleotide variant (synonymous variant) | FARSA-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Rajab interstitial lung disease with brain calcifications 2 | |
| | | Single nucleotide variant (missense variant) | Rajab interstitial lung disease with brain calcifications 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | FARSA-related condition | |
| | | Single nucleotide variant (missense variant) | FARSA-related condition | |
| | | Single nucleotide variant (synonymous variant) | FARSA-related condition | |
| | | Single nucleotide variant (missense variant) | Rajab interstitial lung disease with brain calcifications 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | FARSA-related condition | |
| | | Single nucleotide variant (missense variant) | FARSA-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Rajab interstitial lung disease with brain calcifications 2 | |
| | | Single nucleotide variant (synonymous variant) | FARSA-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | FARSA-related condition | |
| | | Single nucleotide variant (missense variant) | Rajab interstitial lung disease with brain calcifications 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Rajab interstitial lung disease with brain calcifications 2 | |
| | | Single nucleotide variant (missense variant) | Rajab interstitial lung disease with brain calcifications 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | FARSA-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | FARSA-related condition +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) | FARSA-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Rajab interstitial lung disease with brain calcifications 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FARSA, LOC112543454 (G31D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FARSA, LOC112543454 (S23G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FARSA, LOC112543454 (D22A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Deficiency of alpha-mannosidase +4 more | |
| | | Deletion | not provided | |
| | | Deletion | Episodic ataxia type 2 +2 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |