Gene (transcript) | Nucleotide (protein) | Zygosity | Described by | In silico parameters* | MAF** | Variant classification*** | Disorder (OMIM# inheritance) | ||
---|---|---|---|---|---|---|---|---|---|
Index | Mother | Father | |||||||
AFF2 (NM_002025.3) | c.259A>G (p.Asn87Asp) | Hem. | Het. | – | Not described | 2/4 Damaging | Not detected | Significance uncertain (class 3) | AFF2-related X-linked mental retardation (309,548, XLR) |
MFSD8 (NM_152778.2) | c.325_339del (p.Val109_Ile113del) | Hom. | Het. | Het. | Not described | In-frame small deletion | Not detected | Significance uncertain (class 3) | Neuronal ceroid lipofuscinosis type 7(610,951, AR) |