| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ANTXR2, LOC129992737 (S13N) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hyaline fibromatosis syndrome | |
| | | Single nucleotide variant (missense variant) | Hyaline fibromatosis syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Hyaline fibromatosis syndrome | |
| | | Copy number loss | not provided | |
| | | Deletion (splice acceptor variant) | Hyaline fibromatosis syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hyaline fibromatosis syndrome | |
| | | Duplication (frameshift variant) | Hyaline fibromatosis syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hyaline fibromatosis syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hyaline fibromatosis syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hyaline fibromatosis syndrome | |
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