| | LOC126862863, LOC126862864 +536 more | Copy number gain | See cases | |
| | LOC130063608, LOC130063609 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC112543445, LOC112543446 +355 more | Copy number loss | See cases | |
| | LOC129391074, LOC130063625 +351 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Malan overgrowth syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | Marshall-Smith syndrome +1 more | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +4 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | Marshall-Smith syndrome +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Marshall-Smith syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Marshall-Smith syndrome +1 more | |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Microsatellite (intron variant +1 more) | Marshall-Smith syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Marshall-Smith syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Malan overgrowth syndrome +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Marshall-Smith syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Marshall-Smith syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Malan overgrowth syndrome +1 more | |
| | | Insertion (nonsense +1 more) | Malan overgrowth syndrome | |
| | | Duplication (frameshift variant +1 more) | Malan overgrowth syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Malan overgrowth syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Malan overgrowth syndrome | |
| | | Duplication (frameshift variant +1 more) | Malan overgrowth syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Malan overgrowth syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Malan overgrowth syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Malan overgrowth syndrome +1 more | |
| | | Duplication (frameshift variant +1 more) | Malan overgrowth syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Marshall-Smith syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Malan overgrowth syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | NFIX-related disorder | |
| | | Deletion (frameshift variant +1 more) | Malan overgrowth syndrome | |
| | | Deletion (frameshift variant +1 more) | Marshall-Smith syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Malan overgrowth syndrome | |
| | | Deletion (frameshift variant +1 more) | Malan overgrowth syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Malan overgrowth syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Malan overgrowth syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Malan overgrowth syndrome +1 more | |
| | | Indel (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | NFIX-related disorder +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Marshall-Smith syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Malan overgrowth syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Marshall-Smith syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Marshall-Smith syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Marshall-Smith syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Malan overgrowth syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Malan overgrowth syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Malan overgrowth syndrome | |
| | | Duplication (frameshift variant) | Malan overgrowth syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | NFIX-related disorder | |
| | | Single nucleotide variant (nonsense) | See cases | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Marshall-Smith syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Malan overgrowth syndrome | |
| | | Single nucleotide variant (synonymous variant) | Malan overgrowth syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Marshall-Smith syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Malan overgrowth syndrome | |
| | | Duplication (frameshift variant) | Malan overgrowth syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Malan overgrowth syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Malan overgrowth syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Marshall-Smith syndrome +1 more | |