| | LOC126805769, LOC126805770 +548 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Stickler syndrome type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Stickler syndrome type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Stickler syndrome type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Duplication (3 prime UTR variant +1 more) | Marshall syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Stickler syndrome type 2 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Stickler syndrome type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Stickler syndrome type 2 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous 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 (missense variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Indel (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | COL11A1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hearing impairment +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +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 (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | 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 (intron variant) | 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (A1719E +3 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | COL11A1, LOC126805814 (A1770V +3 more) | Single nucleotide variant (missense variant +1 more) | Fibrochondrogenesis 1 +2 more | |
| | COL11A1, LOC126805814 (Y1715C +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (L1765P +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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (I1634T +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | COL11A1, LOC126805814 (P1748H +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 | |