| | EIF3F, LOC126861132 (R278C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | EIF3F-related disorder | |
| | | Single nucleotide variant (missense variant) | EIF3F-related disorder | |
| | | Single nucleotide variant (synonymous variant) | EIF3F-related disorder | |
| | | Single nucleotide variant (intron variant) | EIF3F-related disorder | |
| | | Single nucleotide variant (missense variant) | EIF3F-related disorder | |
| | | Single nucleotide variant (synonymous variant) | EIF3F-related disorder | |
| | | Single nucleotide variant (synonymous variant) | EIF3F-related disorder | |
| | | Single nucleotide variant (missense variant) | EIF3F-related disorder | |
| | | Single nucleotide variant (missense variant) | EIF3F-related disorder | |
| | | Single nucleotide variant (missense variant) | EIF3F-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EIF3F, LOC126861132 (I263V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | C11orf42, MRGPRG +210 more | Copy number gain | Russell-Silver syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EIF3F, LOC126861132 (T285I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | EIF3F, LOC126861132 (S267G) | Single nucleotide variant (missense variant) | not provided | |
| | EIF3F, LOC126861132 (R306C) | Single nucleotide variant (missense variant) | Intellectual developmental disorder, autosomal recessive 67 | |
| | | Copy number gain | See cases | |
| | EIF3F, LOC126861132 (Q288fs) | Duplication (frameshift variant) | Intellectual developmental disorder, autosomal recessive 67 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Intellectual developmental disorder, autosomal recessive 67 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | EIF3F, LOC126861132 (T303I) | Single nucleotide variant (missense variant) | Intellectual developmental disorder, autosomal recessive 67 | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder, autosomal recessive 67 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder, autosomal recessive 67 | |
| | | Copy number gain | Silver-Russell syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Silver-Russell syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +6 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 gain | See cases | |
| | LOC130005128, LOC130005129 +723 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |