| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | LOC129996933, OSTM1 (P16L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129996933, OSTM1 (L23P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129996933, OSTM1 (P15S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129996933, OSTM1 (L23Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC129996933, OSTM1 (A32T) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129996933, OSTM1 (D45F) | Indel (missense variant) | not provided | |
| | LOC129996933, OSTM1 (W25*) | Single nucleotide variant (nonsense) | not provided | |
| | LOC129996933, OSTM1 (P19A) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129996933, OSTM1 (H40P) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129996933, OSTM1 (L23Q) | Indel (missense variant) | not provided | |
| | LOC129996933, OSTM1 (P15L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129996933, OSTM1 (S26W) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129996933, OSTM1 (P19L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC129996933, OSTM1 (W17R) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129996933, OSTM1 (L24Q) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC129996933, OSTM1 (G27W) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC129996933, OSTM1 (V42I) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129996933, OSTM1 (G21W) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129996933, OSTM1 (C12W) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129996933, OSTM1 (W25R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC129996933, OSTM1 (P16R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC129996933, OSTM1 (W17G) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive osteopetrosis 5 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive osteopetrosis 5 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | OSTM1, LOC129996933 (D45G) | Single nucleotide variant (missense variant) | Autosomal recessive osteopetrosis 5 +1 more | GConflicting classifications of pathogenicity |
| | LOC129996933, OSTM1 (C12*) | Single nucleotide variant (nonsense) | Autosomal recessive osteopetrosis 5 | |