| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Marshall syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Marshall syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 | |
| | COL11A1, LOC126805814 (L1765P +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (L1701F +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (D1745E +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (L1681R +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | COL11A1, LOC126805814 (N1630S +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (D1646N +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (Y1695C +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +2 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 2 | |
| | | Deletion (frameshift variant +1 more) | Stickler syndrome type 2 | |
| | COL11A1, LOC126805814 (A1719E +3 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Hearing loss, autosomal dominant 37 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | COL11A1, LOC126805814 (S1601T +3 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (V1647I +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (E1702A +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (E1625K +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126805814, COL11A1 (V1694M +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (N1593D +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (D1613G +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (A1743S +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (S1609T +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (S1611R +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (R1591Q +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Hearing loss, autosomal dominant 37 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | COL11A1, LOC126805814 (E1624D +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (D1683E +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (V1684G +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (Y1744C +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (N1746K +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (S1574P +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (L1753Q +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (A1706T +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (D1722N +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (H1715L +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | COL11A1, LOC126805814 (F1659L +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (R1617C +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (Y1715C +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (P1748H +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (R1719W +3 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | COL11A1, LOC126805814 (I1634T +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (L1583V +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (K1584T +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hearing loss, autosomal dominant 37 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | COL11A1, LOC126805814 (T1595I +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Marshall syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Marshall syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Marshall syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Marshall syndrome | |
| | | Single nucleotide variant (intron variant) | Marshall syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Marshall syndrome | |
| | COL11A1, LOC126805814 (E1702D +3 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Fibrochondrogenesis 1 +2 more | GConflicting classifications of pathogenicity |
| | LOC126805814, COL11A1 (E1701Q +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |