| 14393199 | CV610581 | deletion | NM_005868.6(BET1):c.134del (p.Ala45fs) | Muscular dystrophy, congenital, with rapid progression [RCV003494570]|Seizure [RCV000758148] | pathogenic|uncertain significance | 7 | 93999180 | 93999180 | Human | 4 | name |
| 401773872 | CV2727659 | single nucleotide variant | NM_005868.6(BET1):c.116T>G (p.Leu39Arg) | not specified [RCV004329836] | uncertain significance | 7 | 93999198 | 93999198 | Human | | name |
| 401894196 | CV2770482 | single nucleotide variant | NM_005868.6(BET1):c.279A>T (p.Gln93His) | not specified [RCV004358117] | uncertain significance | 7 | 93994308 | 93994308 | Human | | name |
| 405728409 | CV3298211 | single nucleotide variant | NM_005868.6(BET1):c.281C>A (p.Thr94Lys) | not specified [RCV004429032] | uncertain significance | 7 | 93994306 | 93994306 | Human | | name |
| 14394889 | CV610592 | single nucleotide variant | NM_005868.6(BET1):c.202G>C (p.Asp68His) | Muscular dystrophy, congenital, with rapid progression [RCV003494571]|Seizure [RCV000758166] | pathogenic|uncertain significance | 7 | 93994385 | 93994385 | Human | 4 | name |
| 39456595 | CV965784 | single nucleotide variant | NM_005868.6(BET1):c.152T>G (p.Ile51Ser) | Muscular dystrophy, congenital, with rapid progression [RCV003494572]|not provided [RCV001255430] | pathogenic|uncertain significance | 7 | 93996314 | 93996314 | Human | 1 | name |
| 598161122 | CV3949362 | single nucleotide variant | NM_005868.6(BET1):c.349C>G (p.Leu117Val) | not specified [RCV005306945] | uncertain significance | 7 | 93994238 | 93994238 | Human | | name |
| 150470535 | CV1219264 | duplication | NM_001098787.2(BET1L):c.-59_-39dup | not provided [RCV001615016] | benign | 11 | 207359 | 207360 | Human | | name |
| 401903968 | CV2806351 | single nucleotide variant | NM_001098787.2(BET1L):c.87C>T (p.Ala29=) | not provided [RCV003394653] | likely benign | 11 | 205976 | 205976 | Human | | name |
| 597738468 | CV3636531 | single nucleotide variant | NM_001098787.2(BET1L):c.7G>C (p.Asp3His) | not specified [RCV004890025] | uncertain significance | 11 | 207315 | 207315 | Human | | name |
| 155955107 | CV2302374 | single nucleotide variant | NM_001098787.2(BET1L):c.63C>G (p.Asn21Lys) | not specified [RCV004161125] | uncertain significance | 11 | 206000 | 206000 | Human | | name |
| 405728421 | CV3298213 | single nucleotide variant | NM_001098787.2(BET1L):c.29C>T (p.Pro10Leu) | not specified [RCV004429034] | uncertain significance | 11 | 206034 | 206034 | Human | | name |
| 405728434 | CV3298214 | single nucleotide variant | NM_001098787.2(BET1L):c.55C>T (p.Arg19Trp) | not specified [RCV004429035] | uncertain significance | 11 | 206008 | 206008 | Human | | name |
| 156202190 | CV2313203 | single nucleotide variant | NM_001098787.2(BET1L):c.229A>G (p.Met77Val) | not specified [RCV004161459] | uncertain significance | 11 | 205409 | 205409 | Human | | name |
| 329364752 | CV2443827 | single nucleotide variant | NM_001098787.2(BET1L):c.277G>A (p.Val93Met) | not specified [RCV004258168] | uncertain significance | 11 | 205361 | 205361 | Human | | name |
| 405728413 | CV3298212 | single nucleotide variant | NM_001098787.2(BET1L):c.218G>A (p.Arg73His) | not specified [RCV004429033] | uncertain significance | 11 | 205420 | 205420 | Human | | name |
| 597738478 | CV3636529 | single nucleotide variant | NM_001098787.2(BET1L):c.287T>C (p.Ile96Thr) | not specified [RCV004890023] | uncertain significance | 11 | 205351 | 205351 | Human | | name |
| 597738461 | CV3636533 | single nucleotide variant | NM_001098787.2(BET1L):c.146A>C (p.Gln49Pro) | not specified [RCV004890027] | uncertain significance | 11 | 205633 | 205633 | Human | | name |
| 597738456 | CV3636534 | single nucleotide variant | NM_001098787.2(BET1L):c.148A>C (p.Asn50His) | not specified [RCV004890028] | uncertain significance | 11 | 205631 | 205631 | Human | | name |
| 597738452 | CV3636535 | single nucleotide variant | NM_001098787.2(BET1L):c.149A>C (p.Asn50Thr) | not specified [RCV004890029] | uncertain significance | 11 | 205630 | 205630 | Human | | name |
| 156388959 | CV2229814 | single nucleotide variant | NM_001098787.2(BET1L):c.322A>G (p.Arg108Gly) | not specified [RCV004105386] | uncertain significance | 11 | 205316 | 205316 | Human | | name |
| 597738473 | CV3636530 | single nucleotide variant | NM_001098787.2(BET1L):c.304C>T (p.Leu102Phe) | not specified [RCV004890024] | uncertain significance | 11 | 205334 | 205334 | Human | | name |
| 597738464 | CV3636532 | single nucleotide variant | NM_001098787.2(BET1L):c.332C>T (p.Thr111Met) | not specified [RCV004890026] | uncertain significance | 11 | 205306 | 205306 | Human | | name |