| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CAPZA1, LOC126805832 (D10A) | Single nucleotide variant (missense variant) | not specified | |
| | CAPZA1, LOC126805832 (F4S) | Single nucleotide variant (missense variant) | not specified | |
| | CAPZA1, LOC126805832 (D5N) | Single nucleotide variant (missense variant) | not specified | |
| | CAPZA1, LOC126805832 (E12K) | Single nucleotide variant (missense variant) | not provided | |
| | CAPZA1, LINC01356
+12 more | Duplication | Primary amenorrhea | |
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