| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | UBIAD1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | | Single nucleotide variant (missense variant +1 more) | UBIAD1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion | Chromosome 1p36 deletion syndrome | |
| | | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication | Atrial fibrillation, familial, 6 | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | AADACL3, AADACL4 +143 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | LOC110120623, LOC110120648 +361 more | Duplication | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Schnyder crystalline corneal dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant) | Schnyder crystalline corneal dystrophy | |
| | | Deletion | Atrial fibrillation, familial, 6 | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Deletion (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Deletion (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (intron variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (intron variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Insertion (3 prime UTR variant +1 more) | Schnyder crystalline corneal dystrophy | |
| | | Single nucleotide variant (intron variant +1 more) | Schnyder crystalline corneal dystrophy | |