| | | Copy number gain | See cases | |
| | LOC132088948, LOC132088950 +730 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Brugada syndrome | |
| | ACVR2B, ACVR2B-AS1 +1 more | Single nucleotide variant (5 prime UTR variant) | Heterotaxy, visceral, 4, autosomal | |
| | ACVR2B, ACVR2B-AS1 +1 more (M1V) | Single nucleotide variant (missense variant +1 more) | Heterotaxy, visceral, 4, autosomal | |
| | ACVR2B, ACVR2B-AS1 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | ACVR2B, ACVR2B-AS1 +1 more | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 4, autosomal | |
| | ACVR2B, ACVR2B-AS1 +1 more (P4S) | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 4, autosomal | |
| | LOC129936486, ACVR2B +1 more (A7V) | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 4, autosomal | |
| | ACVR2B, ACVR2B-AS1 +1 more (L8F) | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 4, autosomal +1 more | |
| | ACVR2B, ACVR2B-AS1 +1 more | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 4, autosomal | |
| | ACVR2B, ACVR2B-AS1 +1 more | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 4, autosomal | |
| | ACVR2B, ACVR2B-AS1 +1 more | Single nucleotide variant (intron variant) | Heterotaxy, visceral, 4, autosomal | |
| | ACVR2B, ACVR2B-AS1 +1 more | Deletion (intron variant) | ACVR2B-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |