| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | ASTN2-related condition | |
| | | Single nucleotide variant (synonymous variant +2 more) | ASTN2-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | ASTN2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ASTN2-related condition +1 more | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ASTN2, LOC130002464 +3 more | Deletion | Schizophrenia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | 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 | |
| | ASTN2, LOC130002465 +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 condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TRIM32-related condition +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) | Bardet-Biedl syndrome +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 (intron variant +1 more) | Bardet-Biedl syndrome 11 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 11 +3 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) | TRIM32-related condition +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) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 11 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | TRIM32-related condition +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 | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 11 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 11 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |