| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | HMCN1, LOC129388665 (Q4998R) | Single nucleotide variant (missense variant) | not provided | |
| | HMCN1, LOC129388665 (A5001T) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129388665, HMCN1 (T5004F) | Indel (missense variant) | not provided +2 more | |
| | HMCN1, LOC129388665 (T5004S) | Single nucleotide variant (missense variant) | Age related macular degeneration 1 +2 more | |
| | HMCN1, LOC129388665 (T5004I) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
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