| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129933461, LTBP1 (L12F) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129933461, LTBP1 (A14T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129933461, LTBP1 (Y30H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129933461, LTBP1 (A18S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129933461, LTBP1 (L43F) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129933462, LTBP1 (V138L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129933461, LTBP1 (P34Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129933461, LTBP1 (N55S) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital heart disease | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
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