| | TSC22D4, TSC22D4-C7ORF61 (G106S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TSC22D4, TSC22D4-C7ORF61 (R86C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TSC22D4, TSC22D4-C7ORF61 (G53R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TSC22D4, TSC22D4-C7ORF61 (L377M) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | TSC22D4, TSC22D4-C7ORF61 (P371L) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | TSC22D4, TSC22D4-C7ORF61 (E221K) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TSC22D4-C7ORF61, TSC22D4 (K278Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TSC22D4-C7ORF61, TSC22D4 (R243W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TSC22D4-C7ORF61, TSC22D4 (P52L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TSC22D4, TSC22D4-C7ORF61 (P141L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TSC22D4, TSC22D4-C7ORF61 (R194H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TSC22D4, TSC22D4-C7ORF61 (G4D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TSC22D4, TSC22D4-C7ORF61 (N391I) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | TSC22D4-C7ORF61, TSC22D4 (N45S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TSC22D4, TSC22D4-C7ORF61 (P68L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SPACDR, TSC22D4-C7ORF61 (E87fs) | Deletion (frameshift variant) | not provided | |