Links from Orgtrack
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Rajab interstitial lung disease with brain calcifications +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 3B +1 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 3B | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | GARS-associated growth retardation and developmental delay | |
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