| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC130058897, PYCARD +1 more (S58N) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Microcephaly | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion | Branched-chain keto acid dehydrogenase kinase deficiency | |
| | | 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 | |
| | | Complex | Hemimegalencephaly | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | LOC130058732, LOC130058733 +504 more | Copy number gain | See cases | |
| | LOC130058889, LOC130058890 +207 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene