| | | Deletion (frameshift variant) | Neu-Laxova syndrome 1 | |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | PHGDH deficiency | |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +2 more | |
| | | Deletion (frameshift variant) | Neu-Laxova syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | PHGDH deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neu-Laxova syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | PHGDH deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | PHGDH deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Neu-Laxova syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant) | Neu-Laxova syndrome 1 +1 more | |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | PHGDH deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (nonsense) | PHGDH deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +3 more | |
| | | Single nucleotide variant (intron variant) | PHGDH deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | PHGDH deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | PHGDH deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | PHGDH deficiency +2 more | |
| | | Single nucleotide variant | not provided +2 more | |
| | | Single nucleotide variant | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PHGDH deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 1 +2 more | GPathogenic/Likely pathogenic |