| | LOC129932539, LOC129932540 +1148 more | Copy number gain | See cases | |
| | LOC120893174, LOC122149340 +166 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC129932234, RNPEP (R14Q) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC129932234, RNPEP (D24V) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC129932234, RNPEP (E35K) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC129932234, RNPEP (P49S) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC129932234, RNPEP (G51E) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC129932234, RNPEP (G61C) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC129932234, RNPEP (A63T) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC129932234, RNPEP (L93P) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC129932234, RNPEP (R97L) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC129932234, RNPEP (S125F) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC129932234, RNPEP (A133S) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC129932234, RNPEP (G145E) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | 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) | not provided | |
| | | 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) | 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) | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (G112D +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (V113I +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (V421I +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (Y133F +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (Q302E +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (D163A +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (P373A +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (A383V +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (M519I +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (I232T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (D558G +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (R441Q +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (D583N +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (G614V +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (S325N +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ELF3-AS1, RNPEP (V514M +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | Epilepsy, familial adult myoclonic, 5 | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Duplication | Parathyroid carcinoma +2 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
| | AVPR1B, B3GALNT2 +393 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |