| | LOC130001539, LOC130001540 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839508, LOC113839509 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001667, LOC130001668 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116186942, LOC116186943 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121366033, LOC121366034 +3785 more | Copy number gain | See cases | |
| | PALM2AKAP2, PAPPA +377 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | ASTN2-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | ASTN2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | ASTN2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | ASTN2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (splice donor variant) | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | ASTN2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | Premature ovarian failure | |
| | ASTN2, LOC130002464 +3 more | Copy number loss | See cases | |
| | ASTN2, LOC126860748 +6 more | Copy number gain | See cases | |
| | | Deletion | Autism | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ASTN2, LOC130002464 +3 more | Deletion | Schizophrenia | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ASTN2, LOC130002464 +3 more | Copy number loss | See cases | |
| | ASTN2, LOC130002464 +3 more | Copy number loss | See cases | |
| | ASTN2, LOC130002464 +3 more | Deletion | Schizophrenia | |
| | LOC130002465, LOC130002466 +3 more | Deletion | Schizophrenia | |
| | ASTN2, LOC130002464 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 11 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 11 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 11 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 11 +1 more | |
| | ASTN2, LOC130002465 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC130002465, ASTN2 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TRIM32-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | TRIM32-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 11 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Sarcotubular myopathy +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 11 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sarcotubular myopathy +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | TRIM32-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |