| | ACTC1, GJD2-DT (R227H +2 more) | Single nucleotide variant (missense variant) | Arthrogryposis | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | VPS13D-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (stop lost +1 more) | Arthrogryposis multiplex congenita +1 more | |
| | | Deletion (frameshift variant +1 more) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Deletion (frameshift variant +1 more) | Arthrogryposis multiplex congenita +1 more | |
| | AVEN, RYR3 (D4600G +1 more) | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis multiplex congenita +1 more | |
| | LOC574538, IQSEC3 (L353P +1 more) | Single nucleotide variant (missense variant +1 more) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Deletion (frameshift variant +1 more) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +2 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | PRG4-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Duplication (inframe_insertion +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly 5, primary, autosomal recessive +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Farber lipogranulomatosis +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | RYR1-Related Disorders +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Deletion (frameshift variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Duplication (frameshift variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Deletion (splice acceptor variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, with impaired proprioception and touch +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | CNTNAP1, LOC125177481 (Y23*) | Single nucleotide variant (nonsense) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Indel (missense variant) | Arthrogryposis multiplex congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Duplication (frameshift variant) | Corpus callosum, agenesis of +4 more | |
| | | Single nucleotide variant (nonsense) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Spinal muscular atrophy with congenital bone fractures 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IV, classic hepatic +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Microcephaly 5, primary, autosomal recessive +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiac arrhythmia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | RYR1-Related Disorders +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | RYR1-Related Disorders +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, with impaired proprioception and touch +6 more | |
| | | Single nucleotide variant (missense variant) | SETBP1-related condition +5 more | GConflicting classifications of pathogenicity |