| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice donor variant +1 more) | Autosomal recessive cutis laxa type 2B | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (intron variant +1 more) | Autosomal recessive cutis laxa type 2B | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive cutis laxa type 2B | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive cutis laxa type 2B | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Autosomal recessive cutis laxa type 2B | |
Click to view in NCBI Gene