| | | Duplication (frameshift variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome +3 more | |
| | | Deletion (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Oculotrichoanal syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Trigonocephaly 2 +3 more | |
| | | Single nucleotide variant (intron variant) | Oculotrichoanal syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | BNAR syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | BNAR syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Oculotrichoanal syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | BNAR syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Oculotrichoanal syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Oculotrichoanal syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Oculotrichoanal syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Oculotrichoanal syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant | Oculotrichoanal syndrome | |
| | | Single nucleotide variant | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Oculotrichoanal syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (intron variant) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (intron variant) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant | Oculotrichoanal syndrome | |
| | | Single nucleotide variant | Oculotrichoanal syndrome | |
| | | Single nucleotide variant | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (intron variant) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant | Oculotrichoanal syndrome | |
| | | Single nucleotide variant | Oculotrichoanal syndrome | |
| | | Single nucleotide variant | Oculotrichoanal syndrome | |
| | | Single nucleotide variant | Oculotrichoanal syndrome | |
| | | Single nucleotide variant | Oculotrichoanal syndrome | |
| | | Single nucleotide variant | Oculotrichoanal syndrome | |
| | | Single nucleotide variant | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Oculotrichoanal syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Oculotrichoanal syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (intron variant) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (intron variant) | Oculotrichoanal syndrome +1 more | GConflicting classifications of pathogenicity |
| | FREM1, LOC126860582 (P883R) | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculotrichoanal syndrome | |
| | FREM1, LOC126860582 (I930V) | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome +2 more | |
| | FREM1, LOC126860582 (D947Y) | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome +1 more | |