| | COL18A1, SLC19A1 (D1409A +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | COL18A1, SLC19A1 (A1319S +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | COL18A1, SLC19A1 (Y1502C +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL18A1, SLC19A1 (A1636T +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL18A1, SLC19A1 (G1206R +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL18A1, SLC19A1 (G1403S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | COL18A1, SLC19A1 (G1154fs +2 more) | Duplication (frameshift variant) | COL18A1-related disorder | |
| | | Deletion | COL18A1-related disorder | |
| | | Deletion | COL18A1-related disorder | |
| | | Duplication | COL18A1-related disorder | |
| | | Deletion | COL18A1-related disorder | |
| | | Deletion (inframe_deletion) | COL18A1-related disorder | |
| | COL18A1, SLC19A1 (G1125del +2 more) | Deletion | COL18A1-related disorder | |
| | | Deletion (inframe_deletion) | COL18A1-related disorder | |
| | | Deletion (inframe_deletion) | COL18A1-related disorder | |
| | COL18A1, SLC19A1 (G942S +2 more) | Single nucleotide variant (missense variant) | COL18A1-related disorder | |
| | COL18A1, SLC19A1 (S1028* +2 more) | Single nucleotide variant (nonsense) | Knobloch syndrome 1 | |
| | COL18A1, SLC19A1 (G1171fs +2 more) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COL18A1, SLC19A1 (W1116G +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COL18A1, SLC19A1 (I1594fs +2 more) | Deletion (frameshift variant) | not provided | |
| | COL18A1, SLC19A1 (G1400S +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COL18A1, SLC19A1 (S1205L +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COL18A1, SLC19A1 (Y1280fs +2 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (intron variant +1 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COL18A1, SLC19A1 (S1374fs +2 more) | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | COL18A1, SLC19A1 (R1294P +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | COL18A1, SLC19A1 (G1178fs +2 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | COL18A1, SLC19A1 (G1377fs +2 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COL18A1, SLC19A1 (W1210* +2 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC19A1, COL18A1 (A1635fs +2 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | COL18A1, SLC19A1 (P1017H +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | COL18A1, SLC19A1 (I1742M +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (intron variant) | not provided | |