| | | Copy number gain | See cases | |
| | LOC129390180, LOC129390181 +1008 more | Copy number gain | See cases | |
| | LOC129390190, LOC129390191 +610 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130004125, LOC130004126 +580 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Duplication (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | congenital heart defects | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence +2 more | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (synonymous variant) | NODAL-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (splice donor variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Heart, malformation of | |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (inframe_indel) | not provided +1 more | |
| | | Deletion (frameshift variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (nonsense) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | Congenitally corrected transposition of the great arteries | |
| | | Deletion (frameshift variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Single nucleotide variant (missense variant) | NODAL-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal +1 more | |
| | | Deletion (frameshift variant) | Heterotaxy, visceral, 5, autosomal | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 5, autosomal | |