| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | COL8A2, LOC129930125 (V19M) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Corneal dystrophy, Fuchs endothelial, 1 | |
| | COL8A2, LOC129930125 (G31R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | COL8A2, LOC129930125 (R25W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | COL8A2, LOC129930125 (P24R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL8A2, LOC129930125 (I44V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | COL8A2, LOC129930125 (A35V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | COL8A2, LOC129930125 (P24L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
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