| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC100130987, POLD4 (H103R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC100130987, POLD4 (P81T) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC100130987, POLD4 (R66L) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC100130987, POLD4 (W56R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC100130987, POLD4 (G19R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC100130987, POLD4 (P12L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC100130987, POLD4 (S10C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Aicardi-Goutieres syndrome 3 +1 more | |
| | | Copy number gain | MISSED ABORTION | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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