| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (genic upstream transcript variant +1 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (5 prime UTR variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (splice acceptor variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive osteopetrosis 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Increased bone mineral density +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Osteopetrosis +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | Autosomal recessive osteopetrosis 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Osteopetrosis +2 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive osteopetrosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |