| | | Single nucleotide variant (splice donor variant) | Lethal Kniest-like syndrome | |
| | | Single nucleotide variant (splice donor variant) | Lethal Kniest-like syndrome | |
| | | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome | |
| | | Single nucleotide variant (nonsense) | Lethal Kniest-like syndrome | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome type 1 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Lethal Kniest-like syndrome | |
| | | Duplication (inframe_insertion) | Lethal Kniest-like syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Lethal Kniest-like syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Schwartz-Jampel syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Lethal Kniest-like syndrome +2 more | |
| | | Deletion (intron variant) | Lethal Kniest-like syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Schwartz-Jampel syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Schwartz-Jampel syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Schwartz-Jampel syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Schwartz-Jampel syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Schwartz-Jampel syndrome +2 more | |
| | | Deletion (frameshift variant) | Lethal Kniest-like syndrome | |
| | | Single nucleotide variant (intron variant) | Lethal Kniest-like syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome +1 more | |
| | | Duplication (frameshift variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lethal Kniest-like syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Lethal Kniest-like syndrome | |
| | | Single nucleotide variant (intron variant) | Lethal Kniest-like syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome | |
| | HSPG2, LDLRAD2 (G4318S +1 more) | Single nucleotide variant (missense variant +1 more) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Lethal Kniest-like syndrome | |
| | | Single nucleotide variant (intron variant) | Lethal Kniest-like syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lethal Kniest-like syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Lethal Kniest-like syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | HSPG2, LOC126805655 (P2211L +1 more) | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | HSPG2, LOC126805655 (G2214S +1 more) | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |