| | | Single nucleotide variant (splice acceptor variant) | Microphthalmia with brain and digit anomalies | |
| | | Deletion (frameshift variant) | Microphthalmia with brain and digit anomalies | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant) | Microphthalmia with brain and digit anomalies +2 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +2 more | |
| | | Single nucleotide variant (synonymous variant) | BMP4-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microphthalmia with brain and digit anomalies +2 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Microphthalmia with brain and digit anomalies +2 more | |
| | | Single nucleotide variant (synonymous variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (nonsense) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (intron variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +3 more | |
| | | Single nucleotide variant | Microphthalmia with brain and digit anomalies +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Microphthalmia with brain and digit anomalies +2 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +2 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +2 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Deletion (frameshift variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Deletion | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant) | Microphthalmia with brain and digit anomalies +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Microphthalmia with brain and digit anomalies | |
| | | Single nucleotide variant (intron variant) | Microphthalmia with brain and digit anomalies | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Microphthalmia with brain and digit anomalies +2 more | |
| | | Single nucleotide variant (intron variant) | Microphthalmia with brain and digit anomalies +2 more | |
| | | Single nucleotide variant (intron variant) | Microphthalmia with brain and digit anomalies +2 more | |
| | | Deletion | Orofacial cleft 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +2 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 11 +1 more | |
| | | Indel (frameshift variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Orofacial cleft 11 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |