| | | Copy number gain | See cases | |
| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC132089671, LOC132089672 +1213 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC03026, LINC03041 +1366 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001672, LOC130001673 +983 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC03041, LINC03106 +898 more | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | LOC126860576, LOC126860577 +897 more | Copy number gain | See cases | |
| | LOC130001469, LOC130001470 +898 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ERVFRD-3, FAM219A +585 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860615, LOC126860616 +435 more | Copy number gain | See cases | |
| | LOC130001735, LOC130001736 +503 more | Copy number gain | See cases | |
| | ALDH1B1, ANKRD18B +360 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129662434, LOC130001682 +138 more | Duplication | Anauxetic dysplasia | |
| | ALDH1B1, ANKRD18A +219 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Distal arthrogryposis type 2B1 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy with fiber type disproportion | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital myopathy 23 | |
| | | 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Arthrogryposis, distal, type 1A +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Arthrogryposis, distal, type 1A +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 23 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 23 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 23 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Duplication (frameshift variant +1 more) | TPM2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (missense variant +1 more) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (intron variant +1 more) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 23 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 23 | |
| | | Single nucleotide variant (missense variant +1 more) | TPM2-related myopathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Insertion (intron variant) | not specified | |
| | | Duplication (intron variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | not specified +3 more | |
| | | Duplication (intron variant) | not provided +4 more | |
| | | Insertion (intron variant) | Arthrogryposis multiplex congenita +3 more | |
| | | Deletion (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 23 +1 more | |
| | | Insertion (intron variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 23 | |
| | | Insertion (intron variant) | Arthrogryposis, distal, type 1A | |
| | | Insertion (intron variant) | TPM2-related disorder | |
| | | Insertion (intron variant) | Arthrogryposis, distal, type 1A | |
| | | Insertion (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (intron variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, distal, type 1A | |
| | | Insertion (intron variant) | Arthrogryposis, distal, type 1A | |
| | | Insertion (intron variant) | Arthrogryposis, distal, type 1A | |
| | | Duplication (intron variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, distal, type 1A | |
| | | 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) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 23 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 1A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | TPM2-related disorder | |
| | | Duplication (intron variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (intron variant) | not provided | |