| | ATAD2B, ATP6V1C2 +653 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933312, LOC129933313 +736 more | Copy number gain | See cases | |
| | C2orf48, C2orf50 +893 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806252, LOC126806253 +2457 more | Copy number gain | See cases | |
| | TRY-GTA2-1, UBXN2A +321 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (splice acceptor variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (intron variant) | ITSN2-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 (synonymous variant) | ITSN2-related disorder | |
| | | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | ITSN2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | 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 (synonymous variant) | ITSN2-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 provided | |
| | | Single nucleotide variant (missense variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ITSN2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Landau-Kleffner syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | ITSN2-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) | ITSN2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (missense variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | ITSN2-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 (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | ITSN2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ITSN2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ITSN2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ITSN2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | ITSN2-related disorder | |