| | | Deletion | Salla disease | |
| | | Deletion | Salla disease | |
| | | Deletion | Salla disease | |
| | | Deletion | Salla disease | |
| | | Insertion | Salla disease | |
| | | Single nucleotide variant (intron variant +1 more) | Salla disease | |
| | LOC129996727, SLC17A5 (V5I) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Salla disease | |
| | | Single nucleotide variant (intron variant) | Salla disease | |
| | | Single nucleotide variant (intron variant) | Salla disease | |
| | LOC129996727, SLC17A5 (R4K) | Single nucleotide variant (missense variant +1 more) | Salla disease | |
| | | Deletion (5 prime UTR variant +2 more) | Salla disease | |
| | LOC129996727, SLC17A5 (M1fs) | Deletion (5 prime UTR variant +2 more) | Salla disease | |
| | | Single nucleotide variant (synonymous variant) | Salla disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Salla disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Salla disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Salla disease | |
| | LOC129996727, SLC17A5 (H16Q) | Single nucleotide variant (missense variant +1 more) | Salla disease | |
| | | Single nucleotide variant (intron variant) | Salla disease | |
| | | Single nucleotide variant (intron variant) | Salla disease | |
| | LOC129996727, SLC17A5 (A2G) | Single nucleotide variant (missense variant +1 more) | Salla disease | |
| | | Single nucleotide variant (nonsense +1 more) | Salla disease | |
| | | Single nucleotide variant (splice acceptor variant) | Salla disease | |
| | | Deletion (genic upstream transcript variant) | Salla disease | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Salla disease | |
| | | Duplication (frameshift variant) | Salla disease | |
| | | Single nucleotide variant (splice acceptor variant) | Salla disease | |
| | | Single nucleotide variant (nonsense) | Salla disease | |
| | SLC17A5, LOC132089454 (W103* +2 more) | Single nucleotide variant (nonsense) | Salla disease | |
| | | Single nucleotide variant (intron variant +1 more) | Salla disease | |
| | | Deletion (frameshift variant +1 more) | Salla disease | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Salla disease | |
| | | Duplication (frameshift variant) | Salla disease | |
| | | Duplication (frameshift variant +1 more) | Salla disease | |
| | | Single nucleotide variant (nonsense +1 more) | Salla disease | |
| | LOC129996727, SLC17A5 (R4G +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC132089454, SLC17A5 (E106K +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC132089454, SLC17A5 (Q108* +2 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (intron variant) | Salla disease | |
| | LOC129996727, SLC17A5 (R19C) | Single nucleotide variant (synonymous variant +1 more) | Salla disease | |
| | | Single nucleotide variant (intron variant) | Salla disease | |
| | | Single nucleotide variant (intron variant) | Salla disease | |
| | LOC129996727, SLC17A5 (R9H) | Single nucleotide variant (missense variant +1 more) | Salla disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Salla disease | |
| | | Single nucleotide variant (intron variant) | Salla disease | |
| | LOC132089454, SLC17A5 (W33* +2 more) | Single nucleotide variant (nonsense) | Salla disease | |
| | LOC129996727, SLC17A5 (P4A) | Single nucleotide variant (5 prime UTR variant +1 more) | Salla disease | |
| | LOC129996727, SLC17A5 (L8V) | Single nucleotide variant (missense variant +1 more) | Salla disease | |
| | LOC129996727, SLC17A5 (D12G +1 more) | Single nucleotide variant (missense variant +1 more) | Salla disease | |
| | LOC129996727, SLC17A5 (M1L) | Single nucleotide variant (5 prime UTR variant +2 more) | Salla disease | |
| | LOC129996727, SLC17A5 (A14E) | Single nucleotide variant (synonymous variant +1 more) | Salla disease | |
| | LOC132089454, SLC17A5 (Q108fs +2 more) | Insertion (frameshift variant) | Salla disease +1 more | |
| | LOC129996727, SLC17A5 (D12E +1 more) | Single nucleotide variant (missense variant +1 more) | Salla disease | |
| | LOC129996727, SLC17A5 (A2E) | Single nucleotide variant (missense variant +1 more) | Salla disease | |
| | | Single nucleotide variant (synonymous variant) | Salla disease | |
| | | Single nucleotide variant (synonymous variant) | Salla disease | |
| | | Single nucleotide variant (intron variant) | Salla disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Salla disease | |
| | | Single nucleotide variant (intron variant) | Salla disease | |
| | LOC129996727, SLC17A5 (R6W +1 more) | Single nucleotide variant (missense variant) | Salla disease | |
| | LOC132089454, SLC17A5 (D27N +2 more) | Single nucleotide variant (missense variant) | Salla disease | |
| | LOC129996727, SLC17A5 (M1L) | Single nucleotide variant (missense variant +2 more) | Salla disease | |
| | | Deletion | Sialic acid storage disease, severe infantile type | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Salla disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Salla disease +1 more | |
| | LOC129996727, SLC17A5 (R6L) | Single nucleotide variant (missense variant +1 more) | Salla disease | |
| | LOC129996727, SLC17A5 (R9L) | Single nucleotide variant (missense variant +1 more) | Salla disease | |
| | LOC129996727, SLC17A5 (L10R) | Single nucleotide variant (missense variant +1 more) | Salla disease | |
| | LOC129996727, SLC17A5 (M1T) | Single nucleotide variant (missense variant +2 more) | Salla disease | |
| | | Single nucleotide variant (synonymous variant) | Salla disease | |
| | | Single nucleotide variant (synonymous variant) | Salla disease | |
| | LOC129996727, SLC17A5 (M1V) | Single nucleotide variant (5 prime UTR variant +2 more) | Salla disease | |
| | | Single nucleotide variant (5 prime UTR variant) | Salla disease | |
| | LOC129996727, SLC17A5 (A8T +1 more) | Single nucleotide variant (missense variant) | Salla disease | |
| | LOC129996727, SLC17A5 (P20L) | Single nucleotide variant (synonymous variant +1 more) | Salla disease | |
| | | Single nucleotide variant (missense variant) | Salla disease | |
| | LOC132089454, SLC17A5 (G120D +2 more) | Single nucleotide variant (missense variant) | Salla disease | |
| | | Single nucleotide variant (splice donor variant) | Salla disease | |
| | SLC17A5, LOC129996727 (R13P) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (synonymous variant) | Salla disease +2 more | |
| | LOC129996727, SLC17A5 (A29T) | Single nucleotide variant (missense variant) | Salla disease +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Salla disease | |
| | | Single nucleotide variant (synonymous variant) | Salla disease | |
| | | Single nucleotide variant (synonymous variant) | SLC17A5-related disorder +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Salla disease | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (splice acceptor variant) | Salla disease | |
| | LOC132089454, SLC17A5 (Y117fs) | Duplication (frameshift variant) | Salla disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Salla disease +1 more | |
| | LOC129996727, SLC17A5 (E15*) | Single nucleotide variant (nonsense) | Salla disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Salla disease | |
| | | Single nucleotide variant (intron variant +1 more) | Salla disease | |