| | ATP8A2, ATXN8OS +2048 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861801, LOC126861802 +2047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861839, LOC126861840 +2045 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124849292, LOC124849293 +2028 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009743, LOC130009744 +2024 more | Copy number gain | See cases | |
| | LOC130009548, LOC130009549 +2024 more | Copy number gain | See cases | |
| | RBM26-AS1, RCBTB1 +1004 more | Copy number gain | See cases | |
| | LOC130009757, LOC130009758 +780 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009739, LOC130009740 +992 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009911, LOC130009912 +938 more | Copy number gain | See cases | |
| | LOC130010180, LOC130010181 +1557 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009633, LOC130009634 +141 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00392, LINC00393 +1404 more | Copy number loss | See cases | |
| | LOC130009913, LOC130009914 +733 more | Copy number loss | See cases | |
| | LOC130009813, LOC130009814 +729 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | Autosomal recessive osteopetrosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Autosomal recessive osteopetrosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 2 | |
| | LOC130009662, TNFSF11 (M1T) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive osteopetrosis 2 | |
| | LOC130009662, TNFSF11 (M1K) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | LOC130009662, TNFSF11 (M1R) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | LOC130009662, TNFSF11 (M1I) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (S5G) | Single nucleotide variant (intron variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (R6G) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | TNFSF11, LOC130009662 (K10E) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (K10N) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (R13G) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | LOC130009662, TNFSF11 (E16G) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130009662, TNFSF11 (M18T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (M18K) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (G20S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (P22S) | Indel (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (E27K) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (E27Q) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (E27G) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | LOC130009662, TNFSF11 (E27D) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (G28D) | Single nucleotide variant (missense 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 | |
| | TNFSF11, LOC130009662 (H31L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (P33Q) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (P34Q) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (P34R) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (P36R) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | LOC130009662, TNFSF11 (A37G) | Single nucleotide variant (missense 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 | |
| | LOC130009662, TNFSF11 (P42R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (S47F) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (M48K) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | LOC130009662, TNFSF11 (V50M) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC130009662, TNFSF11 (A51V) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130009662, TNFSF11 (L52V) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | TNFSF11-related condition +2 more | GConflicting classifications of pathogenicity |