| | FRMD8, SLC25A45 (M100V +2 more) | Single nucleotide variant (intron variant +2 more) | not specified | |
| | FRMD8, SLC25A45 (R198Q +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (W183R +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (Q252P +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (M204L +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (H7Y +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FRMD8, SLC25A45 (A10D +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (R137Q +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (K57R +2 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | FRMD8, SLC25A45 (R166W +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (Q198H +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (P54L +2 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | FRMD8, SLC25A45 (R174S +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | FRMD8, SLC25A45 (R48H +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | FRMD8, SLC25A45 (L146F +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (G150R +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not specified | |
| | | Duplication | FADD-related immunodeficiency +1 more | |
| | FRMD8, SLC25A45 (R92Q +2 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | FRMD8, SLC25A45 (P118L +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (P36S +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (H107R +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (V272I +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (T147M +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (G105V +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (A135T +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, SLC25A45 (R93Q +2 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not specified | |
| | FRMD8, SLC25A45 (M142V +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FRMD8, LOC112081410 +1 more (F6S) | Single nucleotide variant (missense variant +3 more) | not specified | |
| | FRMD8, SLC25A45 (R51W +2 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | not specified | |
| | | Deletion | Glycogen storage disease, type V +1 more | |
| | | Deletion | Intellectual disability | |
| | | Duplication | Ependymoma | |
| | | 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 | |
| | LOC130006016, LOC130006017 +80 more | Copy number gain | See cases | |