| | | Deletion | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Deletion | not provided | |
| | | Duplication | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Deletion | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Deletion | KBG syndrome | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | CA5A-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | CA5A-related disorder | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (intron variant) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (intron variant) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (intron variant) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (intron variant) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (intron variant) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | CA5A-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | LOC121587566, LOC121587567 +218 more | Deletion | KBG syndrome | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Duplication | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Deletion | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Duplication | not provided | |
| | | Duplication | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (stop lost +2 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (intron variant) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (intron variant) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (intron variant) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (intron variant) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | not provided | |