| | GTPBP1, SUN2 (V547M +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (G149R +6 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GTPBP1, SUN2 (P746S +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GTPBP1, SUN2 (G155C +6 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GTPBP1, SUN2 (I484V +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (A586P +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (V578I +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (R422S +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (G309S +8 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (R493H +8 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R588* +9 more) | Single nucleotide variant (nonsense) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (A189G +6 more) | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (A323T +6 more) | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (L325P +6 more) | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (V449A +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (W231* +6 more) | Single nucleotide variant (nonsense +1 more) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R275C +6 more) | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (L167P +6 more) | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (H396Y +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | SUN2, GTPBP1 (T491M +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R303Q +8 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (Q335E +8 more) | Single nucleotide variant (missense variant +1 more) | 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 (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (G306A +8 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (A601V +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R481H +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (I357T +8 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R261H +6 more) | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R560L +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 | |
| | GTPBP1, SUN2 (D326Y +6 more) | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R190C +6 more) | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R663W +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (R379C +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (D372G +6 more) | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (I224V +6 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GTPBP1, SUN2 (L661I +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (R309L +6 more) | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy +1 more | |
| | GTPBP1, SUN2 (C513S +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (P481T +9 more) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | GTPBP1, SUN2 (E623K +9 more) | Single nucleotide variant (missense variant) | not specified | |
| | GTPBP1, SUN2 (R303G +8 more) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R258W +8 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (E538K +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (W565C +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R280C +8 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R292H +6 more) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (A504T +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (A670D +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (E346Q +8 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (Q225H +8 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (A466T +8 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (A351P +6 more) | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy +1 more | |
| | GTPBP1, SUN2 (R360C +6 more) | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (A312P +8 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (G439A +8 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R613C +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Indel (frameshift variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (E466K +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous 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 (A244V +8 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | SUN2, GTPBP1 (V579I +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 +1 more) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (R575C +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | GTPBP1, SUN2 (E499D +9 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy | |