| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | EMC1-AS1, FAM43B +221 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LDLRAD2, LOC129929627 (P109S) | Single nucleotide variant (missense variant) | not specified | |
| | LDLRAD2, LOC129929627 (G121W) | Single nucleotide variant (missense variant) | not specified | |
| | LDLRAD2, LOC129929627 (P125L) | Single nucleotide variant (missense variant) | not specified | |
| | LDLRAD2, LOC129929627 (P129L) | Single nucleotide variant (missense variant) | not specified | |
| | LDLRAD2, LOC129929627 (P136R) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (splice acceptor variant +1 more) | Schwartz-Jampel syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lethal Kniest-like 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 (3 prime UTR variant) | Lethal Kniest-like 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 (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) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lethal Kniest-like 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 (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 (3 prime UTR variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Schwartz-Jampel syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lethal Kniest-like 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 (3 prime UTR variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | HSPG2, LDLRAD2 (S4391L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | HSPG2, LDLRAD2 (P4388fs +1 more) | Deletion (frameshift variant +1 more) | Schwartz-Jampel syndrome type 1 | |
| | HSPG2, LDLRAD2 (R4388H +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | HSPG2, LDLRAD2 (R4387S +1 more) | Single nucleotide variant (missense variant +1 more) | Schwartz-Jampel syndrome +2 more | |
| | HSPG2, LDLRAD2 (R4387C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | HSPG2, LDLRAD2 (N4385D +1 more) | Single nucleotide variant (missense variant +1 more) | Schwartz-Jampel syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LDLRAD2, HSPG2 (G4383R +1 more) | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | HSPG2, LDLRAD2 (A4382D +1 more) | Single nucleotide variant (missense variant +1 more) | HSPG2-related condition +5 more | GConflicting classifications of pathogenicity |
| | HSPG2, LDLRAD2 (A4380T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | HSPG2, LDLRAD2 (R4380H +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | HSPG2, LDLRAD2 (R4380C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Connective tissue disorder +3 more | |
| | HSPG2, LDLRAD2 (P4370R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Lethal Kniest-like syndrome +1 more | |
| | HSPG2, LDLRAD2 (G4368S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | HSPG2, LDLRAD2 (P4366S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | HSPG2, LDLRAD2 (R4365L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | HSPG2, LDLRAD2 (R4365Q +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | HSPG2, LDLRAD2 (S4364W +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | HSPG2, LDLRAD2 (S4364L +1 more) | Single nucleotide variant (missense variant +1 more) | HSPG2-related condition +3 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 (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | HSPG2, LDLRAD2 (G4346D +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | HSPG2, LDLRAD2 (G4345E +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LDLRAD2, HSPG2 (G4345R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Lethal Kniest-like syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | HSPG2, LDLRAD2 (T4342M +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | HSPG2, LDLRAD2 (V4340M +1 more) | Single nucleotide variant (missense variant +1 more) | HSPG2-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | HSPG2, LDLRAD2 (G4337R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Schwartz-Jampel syndrome +2 more | GConflicting classifications of pathogenicity |