| | | Copy number gain | See cases | |
| | LOC111982877, LOC111982878 +61 more | Deletion | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Deletion | Generalized juvenile polyposis/juvenile polyposis coli | |
| | LOC130004268, LOC130004269 +57 more | Deletion | PTEN hamartoma tumor syndrome | |
| | LOC130004260, MINPP1 (S12F) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 16 | |
| | | Deletion (frameshift variant) | Pontocerebellar hypoplasia, type 16 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Thyroid cancer, nonmedullary, 2 | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 16 | |
| | | Single nucleotide variant (synonymous variant) | MINPP1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130004261, MINPP1 (E75fs) | Insertion (frameshift variant) | Pontocerebellar hypoplasia, type 16 | |
| | LOC130004261, MINPP1 (E75Q) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130004261, MINPP1 (C78R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Pontocerebellar hypoplasia, type 16 | |
| | | 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 (5 prime UTR variant +1 more) | MINPP1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (nonsense) | MINPP1-related condition | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 16 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Thyroid cancer, nonmedullary, 2 | |
| | | Single nucleotide variant (intron variant) | MINPP1-related condition | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia, type 16 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Pontocerebellar hypoplasia, type 16 | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia, type 16 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia, type 16 | |
| | | Microsatellite (frameshift variant +1 more) | Pontoneocerebellar hypoplasia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126860990, MINPP1 (M198V +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC126860990, MINPP1 (R200Q +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia, type 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC126860990, MINPP1 (R404* +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia, type 16 | |
| | LOC126860990, MINPP1 (L206F +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC126860990, MINPP1 (Q230E +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC126860990, MINPP1 (L244W +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC126860990, MINPP1 (S267fs +1 more) | Deletion (3 prime UTR variant +1 more) | not provided | |
| | MINPP1, LOC126860990 (C268Y +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC126860990, MINPP1 (L477F +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC126860990, MINPP1 (E486K +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia, type 16 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Distal trisomy 10q | |
| | | Copy number loss | Distal 10q deletion syndrome | |
| | | Deletion | PTEN hamartoma tumor syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Deletion | Juvenile polyposis syndrome | |
| | | Copy number loss | not provided | |
| | | Deletion | PTEN hamartoma tumor syndrome | |
| | | Deletion | Generalized juvenile polyposis/juvenile polyposis coli +1 more | |
| | | Deletion | Juvenile polyposis syndrome +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |