| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ADPRH, LOC126806781 (A64V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | ADPRH, LOC126806781 (Y80C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADPRH, LOC126806781 (Y81C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937446, LOC129937447 +1343 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 | |
| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | LOC126806792, LOC126806793 +291 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
Click to view in NCBI Gene