| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938007, LOC129938008 +1317 more | Copy number gain | See cases | |
| | LOC129938312, LOC129938313 +1246 more | Copy number gain | See cases | |
| | LOC129937897, LOC129937898 +1244 more | Copy number gain | See cases | |
| | LOC129938023, LOC129938024 +1200 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938326, LOC129938327 +1064 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +627 more | Copy number gain | See cases | |
| | LOC129938320, LOC129938321 +1041 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +867 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Currarino triad | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Cowden syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication | Cowden syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-capillary malformation-polymicrogyria syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cowden syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Cowden syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Deletion (inframe_indel) | not provided | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Malignant neoplasm of body of uterus +5 more | |
| | | Single nucleotide variant (missense variant) | Malignant neoplasm of body of uterus +5 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Malignant neoplasm of body of uterus +5 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |