| | | Single nucleotide variant (splice donor variant) | Autosomal recessive osteopetrosis 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +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 (5 prime UTR variant +1 more) | TCIRG1-related disorder +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (5 prime UTR variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (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 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 | |
| | | Duplication (5 prime UTR variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Indel (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 +1 more | |
| | | Deletion (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 | |
| | | Deletion (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive osteopetrosis 1 | |
| | | Duplication (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive osteopetrosis 1 | |
| | | Microsatellite (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Deletion (splice donor variant) | Autosomal recessive osteopetrosis 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Deletion (intron variant) | Autosomal recessive osteopetrosis 1 | |
| | | Insertion (inframe_insertion) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Osteopetrosis +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive osteopetrosis 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Autosomal recessive osteopetrosis 1 | |
| | | Duplication (frameshift variant) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Autosomal recessive osteopetrosis 1 | |
| | | Deletion (inframe_deletion) | Autosomal recessive osteopetrosis 1 | |
| | | Deletion (inframe_deletion) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | Autosomal recessive osteopetrosis 1 | |
| | | Deletion (frameshift variant) | Autosomal recessive osteopetrosis 1 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Autosomal recessive osteopetrosis 1 | |
| | | Duplication (inframe_insertion) | Autosomal recessive osteopetrosis 1 | |
| | | Duplication (inframe_insertion) | Autosomal recessive osteopetrosis 1 | |
| | | Microsatellite (inframe_deletion) | Autosomal recessive osteopetrosis 1 | |
| | | Microsatellite (inframe_deletion) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (nonsense) | Osteopetrosis +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive osteopetrosis 1 +1 more | |
| | | Duplication (inframe_insertion) | Autosomal recessive osteopetrosis 1 | |
| | | Microsatellite (inframe_insertion) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (no sequence alteration) | Autosomal recessive osteopetrosis 1 | |