| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | COL4A2, COL4A2-AS2 (D583G) | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
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