| | PSMG3, PSMG3-AS1 +904 more | Copy number gain | See cases | |
| | LOC110120728, LOC110120749 +879 more | Copy number gain | See cases | |
| | CCDC146, CCDC201 +4735 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860013, LOC126860014 +1298 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129997985, LOC129997986 +560 more | Copy number gain | See cases | |
| | LOC111365192, LOC111413014 +281 more | Copy number loss | See cases | |
| | ABCB5, ADCYAP1R1 +387 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Autism spectrum disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | HNRNPA2B1-related condition | |
| | | Microsatellite (3 prime UTR variant) | HNRNPA2B1-related condition | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | HNRNPA2B1 (G334fs +1 more) | Deletion (frameshift variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | HNRNPA2B1 (G331fs +1 more) | Deletion (frameshift variant) | Oculopharyngeal muscular dystrophy 2 | |
| | | Deletion (inframe_deletion) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | HNRNPA2B1 (G327fs +1 more) | Deletion (frameshift variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more | |
| | HNRNPA2B1 (G328fs +1 more) | Deletion (frameshift variant) | Oculopharyngeal muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | HNRNPA2B1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | 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) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | HNRNPA2B1-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Deletion (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | HNRNPA2B1 (G317del +1 more) | Deletion (inframe_deletion) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | HNRNPA2B1 (G311del +1 more) | Microsatellite (inframe_deletion) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more | |
| | | Single nucleotide variant (missense variant) | HNRNPA2B1-related condition | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (synonymous variant) | HNRNPA2B1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | HNRNPA2B1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Duplication (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | HNRNPA2B1-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Duplication (inframe_insertion) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | HNRNPA2B1 (G268del +1 more) | Microsatellite (inframe_deletion) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | 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) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | |