| | LOC129390180, LOC129390181 +1008 more | Copy number gain | See cases | |
| | ADIRF, ADIRF-AS1 +174 more | Copy number loss | See cases | |
| | ADIRF, ADIRF-AS1 +178 more | Copy number loss | See cases | |
| | ADIRF, ADIRF-AS1 +166 more | Copy number loss | See cases | |
| | ADIRF, ADIRF-AS1 +178 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ADIRF, ADIRF-AS1 +163 more | Copy number loss | See cases | |
| | LOC130004227, LOC130004228 +168 more | Copy number loss | See cases | |
| | ADIRF, ADIRF-AS1 +175 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC00857, LINC00858 +147 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Deletion | Generalized juvenile polyposis/juvenile polyposis coli +1 more | |
| | LOC130004247, BMPR1A +2 more | Deletion | Generalized juvenile polyposis/juvenile polyposis coli | |
| | BMPR1A, LOC130004245 +2 more | Duplication | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Deletion | Generalized juvenile polyposis/juvenile polyposis coli +1 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Deletion (splice donor variant) | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Single nucleotide variant (5 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Single nucleotide variant (5 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Single nucleotide variant (5 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Single nucleotide variant (5 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Single nucleotide variant (5 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Single nucleotide variant (5 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Single nucleotide variant (5 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | 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 (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 (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 (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 (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 (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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (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 | |
| | | 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 | |