| | | Deletion | Autosomal recessive inherited pseudoxanthoma elasticum | |
| | ABCC6, LOC125146421 (R1459C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +4 more | |
| | | Insertion (frameshift variant +1 more) | Autosomal recessive inherited pseudoxanthoma elasticum | |
| | | Single nucleotide variant (missense variant +1 more) | Arterial calcification, generalized, of infancy, 2 +1 more | |
| | | Deletion | Autosomal recessive inherited pseudoxanthoma elasticum | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive inherited pseudoxanthoma elasticum | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive inherited pseudoxanthoma elasticum +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive inherited pseudoxanthoma elasticum | |
| | | Single nucleotide variant (missense variant +1 more) | Arterial calcification, generalized, of infancy, 2 +3 more | |
| | | Deletion (frameshift variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive inherited pseudoxanthoma elasticum +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive inherited pseudoxanthoma elasticum | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | ABCC6-related disorder +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ABCC6-related disorder +2 more | |
| | | Single nucleotide variant (splice donor variant) | Arterial calcification, generalized, of infancy, 2 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive inherited pseudoxanthoma elasticum +1 more | |
| | | Deletion (frameshift variant +1 more) | Autosomal recessive inherited pseudoxanthoma elasticum | |
| | | Single nucleotide variant (nonsense +1 more) | Arterial calcification, generalized, of infancy, 2 +4 more | |
| | | Deletion (inframe_deletion +1 more) | Autosomal recessive inherited pseudoxanthoma elasticum | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Arterial calcification, generalized, of infancy, 2 | |