| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130000646, LOC130000647
+191 more | Copy number loss | See cases | |
| | ATP6V0D2, C8orf88
+217 more | Copy number loss | See cases | |
| | LOC130000705, LOC130000706
+327 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
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