| | | Deletion | Tumoral calcinosis, hyperphosphatemic, familial, 1 | |
| | | Copy number gain | See cases | |
| | CLEC12A, CLEC12A-AS1 +1258 more | Copy number gain | See cases | |
| | LOC126861410, LOC126861411 +1258 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007230, LOC130007231 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861494, LOC126861495 +1257 more | Copy number gain | See cases | |
| | CACNA1C-AS2, CACNA1C-AS4 +1242 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007190, LOC130007191 +698 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC126861443, MFAP5 (N107K +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126861443, MFAP5 (N107S +4 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC126861443, MFAP5 (P170L +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | LOC126861443, MFAP5 (D102fs +4 more) | Deletion (frameshift variant +1 more) | not provided | |
| | LOC126861443, MFAP5 (P135L +4 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | LOC126861443, MFAP5 (P160S +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | LOC126861443, MFAP5 (R136Q +4 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC126861443, MFAP5 (R136L +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126861443, MFAP5 (R158* +4 more) | Single nucleotide variant (nonsense +1 more) | Aortic aneurysm, familial thoracic 9 +2 more | GConflicting classifications of pathogenicity |
| | LOC126861443, MFAP5 (N130S +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126861443, MFAP5 (N130D +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126861443, MFAP5 (R143H +4 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | LOC126861443, MFAP5 (R152H +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126861443, MFAP5 (R130C +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126861443, MFAP5 (R127S +4 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC126861443, MFAP5 (L87F +4 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | LOC126861443, MFAP5 (R125T +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | MFAP5, LOC126861443 (R124M +4 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC126861443, MFAP5 (R124fs +4 more) | Deletion (frameshift variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | LOC126861443, MFAP5 (P148S +4 more) | Single nucleotide variant (missense variant +1 more) | MFAP5-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC126861443, MFAP5 (A119S +4 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | LOC126861443, MFAP5 (M79K +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | MFAP5, LOC126861443 (R119L +4 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | LOC126861443, MFAP5 (R116H +4 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | LOC126861443, MFAP5 (R116C +4 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | LOC126861443, MFAP5 (C140Y +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126861443, MFAP5 (L114I +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126861443, MFAP5 (L117F +4 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC126861443, MFAP5 (E113K +4 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | LOC126861443, MFAP5 (E128Q +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | MFAP5-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (inframe_deletion +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | MFAP5-related disorder +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |