| | CYFIP1, LOC112272575 +18 more | Deletion | Chromosome 15q11.2 deletion syndrome | |
| | SNORD115-26, SNORD115-27 +162 more | Duplication | 15q11q13 microduplication syndrome | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Hereditary spastic paraplegia 6 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Chromosome 15q11.2 deletion syndrome | |
| | CYFIP1, LOC112272575 +18 more | Copy number loss | Chromosome 15q11.2 deletion syndrome | |
| | CYFIP1, LOC112272575 +16 more | Copy number loss | 15q11.2 BP1-BP2 recurrent deletion | |
| | LOC130056709, NIPA1 (S29L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | GABRA5, GOLGA6L26 +170 more | Copy number gain | 15q11q13 microduplication syndrome | |
| | | Copy number gain | 15q11q13 microduplication syndrome | |
| | APBA2, ARHGAP11B +227 more | Copy number gain | 15q11q13 microduplication syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | NIPA1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | NIPA1-related disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | CYFIP1, LOC112272575 +18 more | Copy number loss | Autism spectrum disorder | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 6 | |
| | | Deletion (inframe_deletion +1 more) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 6 | |
| | | Insertion (inframe_insertion +1 more) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 6 | |
| | | Deletion (inframe_deletion +1 more) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 6 | |
| | LOC130056709, NIPA1 (A11V) | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 6 | |
| | LOC130056709, NIPA1 (A56T) | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 6 | |
| | LOC130056709, NIPA1 (V47M) | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 6 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | LOC130056709, NIPA1 (T45K) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | CYFIP1, LOC112272575 +18 more | Copy number loss | Microcephaly-digital anomalies-intellectual disability syndrome | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC130056709, NIPA1 (G43A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130056709, NIPA1 (P23R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | Chromosome 15q11.2 deletion syndrome | |
| | ATP10A, ATP10A-DT +163 more | Copy number loss | Angelman syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Chromosome 15q11.2 deletion syndrome | |
| | | Copy number gain | 15q11q13 microduplication syndrome | |
| | | Copy number loss | Chromosome 15q11.2 deletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | Chromosome 15q11.2 deletion syndrome | |
| | | Copy number loss | Chromosome 15q11.2 deletion syndrome | |
| | CYFIP1, LOC112272575 +10 more | Copy number loss | Chromosome 15q11.2 deletion syndrome | |
| | CYFIP1, LOC112272575 +11 more | Copy number loss | Chromosome 15q11.2 deletion syndrome | |
| | CYFIP1, LOC112272575 +14 more | Copy number loss | Chromosome 15q11.2 deletion syndrome | |
| | | Copy number loss | not provided | |
| | | Deletion | Chromosome 15q11.2 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | See cases | |
| | LOC130056709, NIPA1 (S24G) | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 6 | |
| | | Deletion (inframe_deletion +1 more) | Hereditary spastic paraplegia 6 | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |