| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant +1 more) | Sudden infant death-dysgenesis of the testes syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Ehlers-Danlos syndrome, musculocontractural type 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Ehlers-Danlos syndrome, musculocontractural type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Ehlers-Danlos syndrome, musculocontractural type 2 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Ehlers-Danlos syndrome, musculocontractural type 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
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