| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | LOC130056644, LOC130056645 +397 more | Copy number loss | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant | Autosomal recessive agammaglobulinemia 1 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant | Autosomal recessive agammaglobulinemia 1 | |
| | | Copy number loss | not provided | |
| | | Duplication | Autosomal recessive agammaglobulinemia 1 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant | Autosomal recessive agammaglobulinemia 1 | |
| | | Single nucleotide variant | Autosomal recessive agammaglobulinemia 1 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Autosomal recessive agammaglobulinemia 1 | |
| | | Single nucleotide variant | Autosomal recessive agammaglobulinemia 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Premature ovarian failure | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Normal pregnancy | |
| | | Duplication | Normal pregnancy | |
| | | Duplication | Gestational diabetes mellitus uncontrolled | |
| | | Single nucleotide variant | Autosomal recessive agammaglobulinemia 1 | |
| | LOC130056480, LOC130056481 +571 more | Copy number loss | See cases | |
| | LOC126862060, LOC126862061 +3282 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MIR6765, MIR8071-1 +441 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130056686, LOC130056687 +156 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |