| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LRP2BP, SNX25 (A228T +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LRP2BP, SNX25 (K168R +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | LRP2BP, SNX25 (T129K +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | LRP2BP, SNX25 (A57G +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LRP2BP, SNX25 (C135W +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | LRP2BP, SNX25 (H129N +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LRP2BP, SNX25 (R150Q +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | LRP2BP, SNX25 (G292S +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LRP2BP, SNX25 (G246R +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | LRP2BP, SNX25 (D172E +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | LRP2BP, SNX25 (A235T +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LRP2BP, SNX25 (T128M +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | LRP2BP, SNX25 (V151M +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | LRP2BP, SNX25 (R142C +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | LRP2BP, SNX25 (L116F +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | FETAL DEMISE | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | not provided | |
| | | Copy number loss | Atypical behavior +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Duplication | Autism | |
| | | Deletion | Primary dilated cardiomyopathy +1 more | |
| | | Duplication | Primary dilated cardiomyopathy +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | 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 | |
| | | 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 | |