| | | Single nucleotide variant (3 prime UTR variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Marinesco-Sjögren syndrome | |
| | | Deletion (3 prime UTR variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (nonsense) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | SIL1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (nonsense) | Marinesco-Sjögren syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome +2 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (nonsense) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (intron variant) | Marinesco-Sjögren syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (intron variant) | Marinesco-Sjögren syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Marinesco-Sjögren syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | SIL1-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (intron variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (intron variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (intron variant) | Marinesco-Sjögren syndrome +1 more | GConflicting classifications of pathogenicity |