| | | Deletion (splice donor variant) | Sialic acid storage disease, severe infantile type | |
| | | Single nucleotide variant (missense variant) | Sialic acid storage disease, severe infantile type | |
| | | Single nucleotide variant (nonsense +1 more) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Insertion (frameshift variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Insertion (nonsense) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Deletion (frameshift variant +1 more) | Sialic acid storage disease, severe infantile type +1 more | |
| | LOC132089454, SLC17A5 (Q108fs +2 more) | Insertion (frameshift variant) | Salla disease +1 more | |
| | | Deletion (frameshift variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Indel (frameshift variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Insertion (frameshift variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Indel (nonsense) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Deletion (frameshift variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Indel (frameshift variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (missense variant) | Sialic acid storage disease, severe infantile type | |
| | | Single nucleotide variant (missense variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (missense variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Deletion | Sialic acid storage disease, severe infantile type | |
| | | Single nucleotide variant (splice donor variant) | Salla disease | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Sialic acid storage disease, severe infantile type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Salla disease +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Sialic acid storage disease, severe infantile type +2 more | |
| | | Single nucleotide variant (intron variant) | Sialic acid storage disease, severe infantile type +2 more | |
| | | Single nucleotide variant (intron variant) | Sialic acid storage disease, severe infantile type +2 more | |
| | | Single nucleotide variant (nonsense) | Salla disease +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Salla disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Sialic acid storage disease, severe infantile type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Salla disease +1 more | |
| | | Single nucleotide variant (missense variant) | Salla disease +1 more | |
| | | Single nucleotide variant (synonymous variant) | Salla disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Salla disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (missense variant) | Salla disease | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | LOC129996727, SLC17A5 (A29T) | Single nucleotide variant (missense variant) | Sialic acid storage disease, severe infantile type +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Salla disease +2 more | |
| | | Single nucleotide variant (intron variant) | Sialic acid storage disease, severe infantile type +3 more | |
| | | Single nucleotide variant (synonymous variant) | Salla disease +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Sialic acid storage disease, severe infantile type +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Insertion (frameshift variant) | Salla disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Sialic acid storage disease, severe infantile type +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | 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 | |
| | | Single nucleotide variant (synonymous variant) | Salla disease +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (synonymous variant) | Sialic acid storage disease, severe infantile type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Salla disease +1 more | |
| | | Single nucleotide variant (missense variant) | Salla disease +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Salla disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Salla disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Salla disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Salla disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Salla disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Salla disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Sialic acid storage disease, severe infantile type +1 more | |
| | | Single nucleotide variant (missense variant) | SLC17A5-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Salla disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Salla disease +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Salla disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Salla disease +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Salla disease +1 more | |