| | IL17RA, LINC01640 +2088 more | Copy number gain | See cases | |
| | LOC130067403, LOC130067404 +2088 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130067651, LOC130067652 +1004 more | Copy number gain | See cases | |
| | ANKRD54, APOBEC3A +177 more | Copy number loss | See cases | |
| | ANKRD54, BAIAP2L2 +122 more | Copy number loss | See cases | |
| | LOC130067459, LOC130067460 +273 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | GTPBP1, SUN2 (H687Q +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (A670D +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (E714K +1 more) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | GTPBP1, SUN2 (R575C +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (C513S +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (E538K +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (E656Q +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (W565C +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R560L +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R714Q +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R663W +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (E499D +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (T686M +1 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (A685fs +1 more) | Deletion (frameshift variant) | Emery-Dreifuss muscular dystrophy | |
| | SUN2, GTPBP1 (T491M +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (A681T +1 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Indel (frameshift variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (Q680R +1 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (H486Y +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (P481T +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (G671S +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GTPBP1, SUN2 (D683N +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (T666I +1 more) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | GTPBP1, SUN2 (K634Q +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (L661I +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (E466K +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (E623K +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (I484V +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (A601V +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (S449C +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (A586P +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (A653T +1 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (V629A +1 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (E627Q +1 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (V578I +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | SUN2, GTPBP1 (R428H +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R620C +1 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R481H +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R422S +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (R613C +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (V449A +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (A478T +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (G445A +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy +1 more | |
| | GTPBP1, SUN2 (A603T +1 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (D431E +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R589Q +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GTPBP1, SUN2 (R588* +9 more) | Single nucleotide variant (nonsense) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (W552C +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (G414S +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GTPBP1, SUN2 (T571M +1 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (E538K +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (S564C +1 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R583* +1 more) | Single nucleotide variant (nonsense) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | SUN2, GTPBP1 (V579I +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |