| | | Duplication (frameshift variant +1 more) | Holoprosencephaly 3 | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | SHH-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | SHH-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | SHH-related condition | |
| | | Single nucleotide variant (intron variant) | SHH-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | SHH-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | SHH-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | SHH-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | SHH-related condition | |
| | | Single nucleotide variant (intron variant) | SHH-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | SHH-related condition | |
| | | Single nucleotide variant (intron variant) | SHH-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | SHH-related condition | |
| | | Single nucleotide variant (intron variant) | SHH-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | SHH-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | SHH-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHH-related condition | |
| | | Single nucleotide variant (intron variant) | SHH-related condition | |
| | | Single nucleotide variant (intron variant) | SHH-related condition | |
| | | Single nucleotide variant (intron variant) | SHH-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | SHH-related condition +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | SHH-related condition +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Deletion (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Deletion (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Deletion (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Deletion (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Deletion (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (nonsense +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 3 | |