| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | ADAMTS17, LOC130058037 (P574S) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTS17, LOC130058037 (R566Q) | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | ADAMTS17, LOC130058037 (R564L) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTS17, LOC130058037 (R564H) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTS17, LOC130058037 (R564C) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTS17, LOC130058037 (G562V) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTS17, LOC130058037 (T561M) | Single nucleotide variant (missense variant) | Weill-Marchesani 4 syndrome, recessive +1 more | |
| | ADAMTS17, LOC130058037 (R557Q) | Single nucleotide variant (missense variant) | not provided | |
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